prenatal diagnosis

Summary

Summary: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth.

Top Publications

  1. ncbi DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Genet Med 13:913-20. 2011
  2. ncbi Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    Diana W Bianchi
    Mother Infant Research Institute, Tufts Medical Center and Tufts University School of Medicine, Boston, Massachusetts, USA
    Obstet Gynecol 119:890-901. 2012
  3. pmc Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
    Y M Lo
    Department of Chemical Pathology, The University of Hong Kong, Prince Wales Hospital, Shatin, New Territories, Hong Kong
    Am J Hum Genet 62:768-75. 1998
  4. pmc DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:296-305. 2012
  5. pmc Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA
    N Engl J Med 367:2175-84. 2012
  6. pmc Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    Eric Z Chen
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
    PLoS ONE 6:e21791. 2011
  7. pmc Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    H Christina Fan
    Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, 318 Campus Drive, Clark Center, Room E300, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 105:16266-71. 2008
  8. ncbi Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis
    S C Hillman
    School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
    Ultrasound Obstet Gynecol 37:6-14. 2011
  9. pmc Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
    Rossa W K Chiu
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong SAR, China
    BMJ 342:c7401. 2011
  10. pmc Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
    Maria Loane
    Institute of Nursing Research, University of Ulster, Jordanstown, UK
    Eur J Hum Genet 21:27-33. 2013

Detail Information

Publications368 found, 100 shown here

  1. ncbi DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Genet Med 13:913-20. 2011
    ..Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement...
  2. ncbi Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    Diana W Bianchi
    Mother Infant Research Institute, Tufts Medical Center and Tufts University School of Medicine, Boston, Massachusetts, USA
    Obstet Gynecol 119:890-901. 2012
    ..To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal aneuploidy from maternal plasma...
  3. pmc Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
    Y M Lo
    Department of Chemical Pathology, The University of Hong Kong, Prince Wales Hospital, Shatin, New Territories, Hong Kong
    Am J Hum Genet 62:768-75. 1998
    ..These data suggest that fetal DNA can be readily detected in maternal plasma and serum and may be a valuable source of material for noninvasive prenatal diagnosis.
  4. pmc DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:296-305. 2012
    ..To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13...
  5. pmc Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA
    N Engl J Med 367:2175-84. 2012
    ..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis.
  6. pmc Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    Eric Z Chen
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
    PLoS ONE 6:e21791. 2011
    ..However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set...
  7. pmc Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    H Christina Fan
    Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, 318 Campus Drive, Clark Center, Room E300, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 105:16266-71. 2008
    ..Direct sequencing also allowed us to study the characteristics of cell-free plasma DNA, and we found evidence that this DNA is enriched for sequences from nucleosomes...
  8. ncbi Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis
    S C Hillman
    School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
    Ultrasound Obstet Gynecol 37:6-14. 2011
    ..The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping...
  9. pmc Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
    Rossa W K Chiu
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong SAR, China
    BMJ 342:c7401. 2011
    ..To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling...
  10. pmc Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
    Maria Loane
    Institute of Nursing Research, University of Ulster, Jordanstown, UK
    Eur J Hum Genet 21:27-33. 2013
    ..in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6...
  11. ncbi Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
    Idit Maya
    The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel
    Prenat Diagn 30:1131-7. 2010
    ..There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269 prenatal aCGHs between 2006 and 2009...
  12. ncbi Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
    Amy J Sehnert
    Verinata Health, Inc, San Carlos, CA, USA
    Clin Chem 57:1042-9. 2011
    ..Although existing algorithms focus on the detection of fetal trisomy 21 (T21), these same algorithms have difficulty detecting trisomy 18 (T18)...
  13. pmc Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    Rossa W K Chiu
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China
    Proc Natl Acad Sci U S A 105:20458-63. 2008
    Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, and are associated with a risk ..
  14. ncbi Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis
    Ioana Claudia Lakovschek
    Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria
    Am J Med Genet A 155:2626-33. 2011
    ..This study was conducted to analyze natural outcome after prenatal diagnosis of these disorders...
  15. pmc Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield
    Angela N Barrett
    NE Thames Regional Molecular Genetics Laboratories, Great Ormond Street Hospital for Children, London, United Kingdom
    PLoS ONE 6:e25202. 2011
    Cell-free fetal DNA is a source of fetal genetic material that can be used for non-invasive prenatal diagnosis. Usually constituting less than 10% of the total cell free DNA in maternal plasma, the majority is maternal in origin...
  16. ncbi Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype
    G D'Amours
    Service de Genetique Medicale, CHU Sainte Justine, Montreal, QC, Canada
    Clin Genet 81:128-41. 2012
    ..2% of tested fetuses (6/49). Our results document the value of whole-genome aCGH as a prenatal diagnostic tool and highlight the interpretation difficulties associated with copy number variations of unclear significance...
  17. pmc Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
    Ignatia B Van den Veyver
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
    Prenat Diagn 29:29-39. 2009
    To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa.
  18. ncbi Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases
    Francesco Fiorentino
    GENOMA Molecular Genetics Laboratory, via Po, 102 00198, Rome, Italy
    Prenat Diagn 31:1270-82. 2011
    To assess the feasibility of offering array-based comparative genomic hybridization testing for prenatal diagnosis as a first-line test, a prospective study was performed, comparing the results achieved from array comparative genomic ..
  19. pmc Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
    Elisavet A Papageorgiou
    Cytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Nat Med 17:510-3. 2011
    The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently used invasive prenatal diagnostic procedures...
  20. ncbi Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
    Fiona M F Lun
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    Clin Chem 54:1664-72. 2008
    The precise measurement of cell-free fetal DNA in maternal plasma facilitates noninvasive prenatal diagnosis of fetal chromosomal aneuploidies and other applications...
  21. pmc Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
    Diana Wellesley
    Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
    Eur J Hum Genet 20:521-6. 2012
    ..and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome...
  22. pmc Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake
    Reana Tischler
    Department of Genetics, Stanford University, Stanford, CA, USA
    Prenat Diagn 31:1292-9. 2011
    To investigate pregnant women's level of future interest in noninvasive prenatal diagnosis (NIPD) and what factors might affect expected uptake of this testing.
  23. ncbi Genomic analysis of fetal nucleic acids in maternal blood
    Yuk Ming Dennis Lo
    Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China
    Annu Rev Genomics Hum Genet 13:285-306. 2012
    ..since the discovery of fetal DNA in maternal plasma have witnessed remarkable developments in noninvasive prenatal diagnosis. An understanding of biological parameters governing this phenomenon, such as the concentration and ..
  24. pmc Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
    Fuman Jiang
    BGI Shenzhen, Shenzhen, China
    BMC Med Genomics 5:57. 2012
    ..Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy...
  25. pmc Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Prenat Diagn 32:976-85. 2012
    To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience.
  26. ncbi Update on procedure-related risks for prenatal diagnosis techniques
    Ann Tabor
    Department of Fetal Medicine, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Fetal Diagn Ther 27:1-7. 2010
    ..As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures...
  27. pmc Non-invasive prenatal measurement of the fetal genome
    H Christina Fan
    Department of Bioengineering, Stanford University, Clark Center Rm E300, 318 Campus Drive, Stanford, California 94305, USA
    Nature 487:320-4. 2012
    ..Non-invasive determination of the fetal genome may ultimately facilitate the diagnosis of all inherited and de novo genetic disease...
  28. ncbi Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles
    Gary J W Liao
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    Clin Chem 57:92-101. 2011
    Massively parallel sequencing has recently been used in noninvasive prenatal diagnosis. The current costs of this technology are still relatively expensive, however, and sample throughput is still relatively low when it is used as a ..
  29. pmc Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics
    H Christina Fan
    Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, Stanford, California, United States of America
    PLoS ONE 5:e10439. 2010
    ..High throughput shotgun sequencing of maternal plasma DNA should therefore enable noninvasive diagnosis of any type of fetal aneuploidy...
  30. ncbi Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
    Mathias Ehrich
    Sequenom Inc, 3595 John Hopkins Ct, San Diego, CA 92121, USA
    Am J Obstet Gynecol 204:205.e1-11. 2011
    ..We sought to evaluate a multiplexed massively parallel shotgun sequencing assay for noninvasive trisomy 21 detection using circulating cell-free fetal DNA...
  31. ncbi Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21
    Rossa W K Chiu
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Hong Kong SAR, China
    Clin Chem 56:459-63. 2010
    Noninvasive prenatal diagnosis of trisomy 21 (T21) has recently been shown to be achievable by massively parallel sequencing of maternal plasma on a sequencing-by-synthesis platform...
  32. ncbi Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma
    Y M Lo
    Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital
    N Engl J Med 339:1734-8. 1998
    ..The recent demonstration of fetal DNA in maternal plasma raises the possibility that fetal RhD genotyping may be possible with the use of maternal plasma...
  33. pmc Digital PCR for the molecular detection of fetal chromosomal aneuploidy
    Y M Dennis Lo
    Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, School of Public Health, The Chinese University of Hong Kong, Sha Tin, New Territories, Hong Kong Special Administrative Region, People s Republic of China
    Proc Natl Acad Sci U S A 104:13116-21. 2007
    Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures such as amniocentesis...
  34. ncbi Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    Justine Coppinger
    Signature Genomic Laboratories, Spokane, WA, USA
    Prenat Diagn 29:1156-66. 2009
    ..To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing...
  35. ncbi Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 8:719-27. 2006
    This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies.
  36. pmc Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies
    Elisavet A Papageorgiou
    Cytogenetics and Genomics Department, The CyprusInstitute of Neurology and Genetics, Nicosia, Cyprus
    Am J Pathol 174:1609-18. 2009
    ..blood and fetal (placental) DNA is one of the main areas of interest for the development of noninvasive prenatal diagnosis of aneuploidies...
  37. ncbi Paper 1: The EUROCAT network--organization and processes
    Patricia A Boyd
    National Perinatal Epidemiology Unit, University of Oxford, Oxford, United Kingdom
    Birth Defects Res A Clin Mol Teratol 91:S2-15. 2011
    ..The monitoring of new developments in prenatal diagnosis, medication during pregnancy, use of folic acid, and investigation of clusters and exposures are overseen by ..
  38. ncbi A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis
    Vanessa Barbaro
    The Veneto Eye Bank Foundation, Venice, Italy
    Am J Med Genet A 158:1957-61. 2012
    ..Mosaicism must be considered for the assessment of recurrence risk during genetic counseling in AEC syndrome, and pre-implantation/prenatal genetic diagnosis should be offered to all couples, even when the mutation is apparently de novo...
  39. ncbi Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies
    Maria Loane
    EUROCAT Central Registry, Centre for Maternal, Fetal and Infant Research, University of Ulster, Newtownabbey, Co Antrim, Northern Ireland, United Kingdom
    Birth Defects Res A Clin Mol Teratol 91:S23-30. 2011
    ....
  40. ncbi Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells
    Brigitte H W Faas
    Radboud University Nijmegen Medical Centre, Department of Human Genetics, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Expert Opin Biol Ther 12:S19-26. 2012
    ..Discrepancies between the genetic constitution of this cell layer and the fetus itself are well known, and therefore, care should be taken when translating results to the fetus itself...
  41. pmc Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens
    Elaine A Sugarman
    Genzyme Geneticss SM, Molecular Diagnostic Laboratory, Esoterix Genetic Laboratories, LLC, successor to Genzyme SM Genetics, Westborough, MA 01581, USA
    Eur J Hum Genet 20:27-32. 2012
    ..We report our data from carrier testing (n = 72,453) and prenatal diagnosis (n = 121) for this condition...
  42. ncbi Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days
    Sina P Müller
    Department of Transfusion Medicine, University Medical Center, Gottingen, Germany
    Prenat Diagn 31:1300-4. 2011
    Before noninvasive prenatal diagnosis on the fetal Rhesus D status (NIPD RhD) can be implemented on a mass-scale, it is crucial to define requirements regarding sample transport...
  43. pmc Antenatal screening for HIV, hepatitis B and syphilis in the Netherlands is effective
    Eline L M Op de Coul
    Centre for Infectious Disease Control, National Institute for Public Health and the Environment, Bilthoven, The Netherlands
    BMC Infect Dis 11:185. 2011
    ..Here, we describe the evaluation of the effectiveness of antenatal screening in the Netherlands for 2006-2008 for HIV, hepatitis B virus (HBV) and syphilis in preventing mother-to-child transmission, by using various data sources...
  44. ncbi A simplified oral glucose tolerance test in pregnancy: compliance and results
    Eva Anderberg
    Department of Obstetrics and Gynecology, Lund University Hospital, Lund, Sweden
    Acta Obstet Gynecol Scand 86:1432-6. 2007
    ....
  45. ncbi Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
    Tze Kin Lau
    Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong
    J Matern Fetal Neonatal Med 25:1370-4. 2012
    ..To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma...
  46. ncbi Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis
    Y M Dennis Lo
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China
    Clin Chem 54:461-6. 2008
    ..circulating cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. The potential application of this technology for the noninvasive prenatal detection of fetal chromosomal ..
  47. ncbi MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21
    Evdokia Tsaliki
    NIPD Genetics Ltd, Nicosia, Cyprus
    Prenat Diagn 32:996-1001. 2012
    ....
  48. ncbi Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing
    George McGillivray
    Royal Women s Hospital, Melbourne, Victoria, Australia Victorian Clinical Genetics Services, Royal Children s Hospital, Melbourne, Victoria, Australia
    Prenat Diagn 32:389-95. 2012
    ..chromosomal anomalies than classical karyotyping, making CMA likely to become a first tier test for prenatal diagnosis. Detecting copy number variants of uncertain clinical significance raises ethical considerations...
  49. ncbi Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia
    Kwan Wood G Lam
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Hong Kong SAR, China
    Clin Chem 58:1467-75. 2012
    ..This technology could have important applications for noninvasive prenatal diagnosis (NIPD) of many monogenic diseases...
  50. ncbi Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma
    Eric Wang
    Ariosa Diagnostics, San Jose, CA, USA
    Prenat Diagn 33:662-6. 2013
    ..To determine the effects of gestational age and maternal weight on percent fetal cell-free DNA (cfDNA) in maternal plasma and the change in fetal cfDNA amounts within the same patient over time...
  51. ncbi A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
    Shengpei Chen
    BGI Shenzhen, Shenzhen, China
    Prenat Diagn 33:584-90. 2013
    ..To report the feasibility of fetal chromosomal deletion/duplication detection using a novel bioinformatic method of low coverage whole genome sequencing of maternal plasma...
  52. pmc Detection of the placental epigenetic signature of the maspin gene in maternal plasma
    Stephen S C Chim
    Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region, China
    Proc Natl Acad Sci U S A 102:14753-8. 2005
    The discovery of fetal DNA in the plasma of pregnant women has opened up new approaches for noninvasive prenatal diagnosis and monitoring...
  53. pmc A review of trisomy X (47,XXX)
    Nicole R Tartaglia
    Department of Pediatrics, University of Colorado Denver School of Medicine, 13123 East 16th Ave, Aurora, CO 80045, USA
    Orphanet J Rare Dis 5:8. 2010
    ..Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment...
  54. ncbi Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome
    Radu Harbuz
    Département de Génétique et Procréation, CHU de Grenoble, France
    Prenat Diagn 30:1072-8. 2010
    ..Molecular diagnosis and prenatal care of two pregnant women at risk of transmitting immunodysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome...
  55. ncbi Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities
    G M Grimshaw
    Centre for Health Services Studies, University of Warwick, Coventry, UK
    Health Technol Assess 7:1-146. 2003
  56. ncbi Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies
    C N Lee
    Department of Obstetrics and Gynaecology, National Taiwan University Hospital, Taipei, Taiwan
    BJOG 119:614-25. 2012
    ..To evaluate the clinical value of prenatal array comparative genomic hybridisation (CGH) in screening for submicroscopic genomic imbalances...
  57. ncbi Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis
    Denise Pugash
    Department of Radiology, University of British Columbia, Vancouver, Canada
    Eur J Radiol 68:214-26. 2008
    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of ..
  58. ncbi Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype
    Linda Kleeman
    Division of Maternal Fetal Medicine, Tufts Medical Center, Boston, MA, USA
    Prenat Diagn 29:1213-7. 2009
    ..To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies...
  59. pmc Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
    Lluis Armengol
    qGenomics Laboratory, Doctor Aiguader, 88, 08003 Barcelona, Spain
    Hum Genet 131:513-23. 2012
    ....
  60. ncbi SAFE--the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements
    Lyn S Chitty
    Clinical and Molecular Genetics Unit, Institute of Child Health and Fetal Medicine Unit, University College London NHS Foundation Trust, London, UK
    Prenat Diagn 28:83-8. 2008
    ..We demonstrate how this network facilitates the implementation of non-invasive prenatal diagnosis (NIPD) for single gene disorders, fetal rhesus typing, aneuploidy and pregnancy complications.
  61. ncbi Molecular prenatal diagnosis: the impact of modern technologies
    F Lucy Raymond
    Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Prenat Diagn 30:674-81. 2010
    Originally prenatal diagnosis was confined to the diagnosis of metabolic disorders and depended on assaying enzyme levels in amniotic fluid...
  62. ncbi Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of England
    Shenaz Ahmed
    Academic Unit of Psychiatry and Behavioural Sciences, University of Leeds, Leeds, LS2 9LT, UK
    Prenat Diagn 26:248-57. 2006
    ..However, various factors influence people's attitudes towards prenatal diagnosis and termination of pregnancy, which have not been investigated in a UK Pakistani sample...
  63. ncbi Hemivertebra: prenatal diagnosis, incidence and characteristics
    Israel Goldstein
    Department of Obstetrics and Gynecology, Rambam Medical Center, and Rappaport Faculty of Medicine, Technion, Israel
    Fetal Diagn Ther 20:121-6. 2005
    ..We aimed to determine the incidence and clinical characteristics of hemivertebra...
  64. pmc Comparison of the diagnostic accuracy of a rapid immunochromatographic test and the rapid plasma reagin test for antenatal syphilis screening in Mozambique
    Pablo J Montoya
    Health Alliance International, Maputo, Mozambique
    Bull World Health Organ 84:97-104. 2006
    ....
  65. ncbi Workshop report on the extraction of foetal DNA from maternal plasma
    Tobias J Legler
    Department of Transfusion Medicine, University of Gottingen, Gottingen, Germany
    Prenat Diagn 27:824-9. 2007
    Cell free foetal DNA (cff DNA) extracted from maternal plasma is now recognized as a potential source for prenatal diagnosis but the methodology is currently not well standardized...
  66. ncbi Congenital cytomegalovirus (CMV) epidemiology and awareness
    Michael J Cannon
    National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA
    J Clin Virol 46:S6-10. 2009
    ....
  67. ncbi Voluntary counseling and HIV testing for pregnant women in the Kassena-Nankana district of northern Ghana: is couple counseling the way forward?
    Frank Baiden
    Navrongo Health Research Center, Navrongo, Ghana
    AIDS Care 17:648-57. 2005
    ..Couple counseling facilitated through couple-friendly ANC services should be explored as strategy for the intended VCT program in this district...
  68. pmc Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
    Fiona M F Lun
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology and Obstetrics and Gynaecology, Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR
    Proc Natl Acad Sci U S A 105:19920-5. 2008
    b>Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and beta-thalassemia, is currently offered as part of public health programs...
  69. ncbi Improvement in fetal DNA extraction from maternal plasma. Evaluation of the NucliSens Magnetic Extraction system and the QIAamp DSP Virus Kit in comparison with the QIAamp DNA Blood Mini Kit
    Frederik Banch Clausen
    H S Blodbank KI2034, Copenhagen University Hospital, Copenhagen, Denmark
    Prenat Diagn 27:6-10. 2007
    ....
  70. ncbi The use of the Antenatal Psychosocial Health Assessment (ALPHA) tool in the detection of psychosocial risk factors for postpartum depression: a randomized controlled trial
    Emma Robertson Blackmore
    University of Rochester, Rochester NY, USA
    J Obstet Gynaecol Can 28:873-8. 2006
    ..The purpose of this study was to examine how well the Antenatal Psychosocial Health Assessment (ALPHA) form identified antenatal risk factors for PPD, compared with routine care, in a sample of pregnant women...
  71. pmc Modelling the cost-effectiveness of introducing rapid syphilis tests into an antenatal syphilis screening programme in Mwanza, Tanzania
    P Vickerman
    London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT, UK
    Sex Transm Infect 82:v38-43. 2006
    ..This analysis estimates the relative cost-effectiveness of using these POC tests in the Mwanza syphilis screening intervention...
  72. ncbi Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience
    Kevin Spencer
    Department of Clinical Biochemistry, Harold Wood Hospital, Essex, UK
    BJOG 110:281-6. 2003
    ..To evaluate the performance of a one-stop multidisciplinary clinic of screening for fetal chromosomal anomalies in the first trimester of pregnancy by a combination of maternal serum biochemistry and ultrasonography...
  73. ncbi Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing
    H Christina Fan
    Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, Stanford, CA 94305, USA
    Clin Chem 56:1279-86. 2010
    Noninvasive prenatal diagnosis with cell-free DNA in maternal plasma is challenging because only a small portion of the DNA sample is derived from the fetus...
  74. ncbi Effect of timing and type of treatment on the risk of mother to child transmission of Toxoplasma gondii
    R Gilbert
    Centre for Paediatric Epidemiology and Biostatistics, Institute of Child Health, London, UK
    BJOG 110:112-20. 2003
    ..To determine the effects on mother to child transmission of the timing and type of prenatal treatment, taking into account gestational age at maternal seroconversion...
  75. ncbi Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis
    Farideh Z Bischoff
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Reprod Update 8:493-500. 2002
    ..The above results imply that the concentration of fetal DNA in maternal plasma may not be dependent on circulating intact fetal cells but rather be a product of growth and cellular turnover during embryonic or fetal development...
  76. pmc Diagnosis and management of human cytomegalovirus infection in the mother, fetus, and newborn infant
    Maria Grazia Revello
    Servizio di Virologia, IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Clin Microbiol Rev 15:680-715. 2002
    ..If primary infection is diagnosed in a timely manner, prenatal diagnosis can be offered, including the search for virus and virus components in fetal blood and amniotic fluid, with ..
  77. ncbi Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations
    Yu K Tong
    Department of Chemical Pathology, Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China
    Clin Chem 52:2194-202. 2006
    The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. However, the use of maternal plasma fetal DNA for the direct detection of fetal chromosomal aneuploidies has not ..
  78. ncbi Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms
    Ying Li
    University Women s Hospital Department of Research, University of Basel, Basel, Switzerland
    Clin Chem 50:1002-11. 2004
    Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis, particularly for the analysis of fetal genetic traits, which are absent from the maternal genome, e.g...
  79. ncbi Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21
    Stephen S C Chim
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR
    Clin Chem 54:500-11. 2008
    The presence of fetal DNA in maternal plasma represents a source of fetal genetic material for noninvasive prenatal diagnosis; however, the coexisting background maternal DNA complicates the analysis of aneuploidy in such fetal DNA...
  80. pmc Effect of a syphilis control programme on pregnancy outcome in Nairobi, Kenya
    M Temmerman
    Department of Obstetrics and Gynaecology, University of Ghent, Belgium
    Sex Transm Infect 76:117-21. 2000
    ..To assess the impact of a syphilis control programme of pregnant women on pregnancy outcome in Kenya...
  81. ncbi Non-invasive antenatal RHD typing
    C E van der Schoot
    Department of Experimental Immunohematology, Sanquin Research, 125, Plesmanlaan, 1066 CX Amsterdam, The Netherlands
    Transfus Clin Biol 13:53-7. 2006
    ..from apoptotic syncytiotrophoblast, in the maternal circulation has opened new possibilities of non-invasive prenatal diagnosis. Although still some technical problems exists, especially the lack of a generic positive control on the ..
  82. ncbi New advances in the diagnosis of congenital cytomegalovirus infection
    Tiziana Lazzarotto
    Department of Hematology, St Orsola Malpighi General Hospital, University of Bologna, Bologna, Italy
    J Clin Virol 41:192-7. 2008
    ..In mothers at risk of transmitting the virus prenatal diagnosis can be performed between 21 and 22 weeks of gestation, and the amniotic fluid represents the pathological ..
  83. ncbi Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis
    F K Nasrallah
    Department of Obstetrics and Gynecology, King Abdulaziz Medical City, Jeddah, Saudi Arabia
    Ultrasound Obstet Gynecol 34:601-4. 2009
    Idiopathic infantile arterial calcification (IIAC) is a rare and nearly always fatal disorder. To date, prenatal diagnosis has been reported in fewer than 10 cases...
  84. ncbi Methods to increase the percentage of free fetal DNA recovered from the maternal circulation
    Ravinder Dhallan
    Ravgen Inc, Columbia, MD 21045, USA
    JAMA 291:1114-9. 2004
    ....
  85. ncbi Array comparative genomic hybridization in prenatal diagnosis: another experience
    F Vialard
    Federation of Genetics, CHI Poissy Saint Germain, Poissy, France
    Fetal Diagn Ther 25:277-84. 2009
    ....
  86. ncbi Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, WA 99202, USA
    Prenat Diagn 28:789-95. 2008
    ..To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing...
  87. ncbi Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience
    P G Scheffer
    Division of Perinatology and Gynaecology, University Medical Centre Utrecht, Utrecht, The Netherlands
    BJOG 118:1340-8. 2011
    ..To evaluate the diagnostic performance of noninvasive fetal blood group genotyping...
  88. pmc Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA
    Gary J W Liao
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong, China
    PLoS ONE 7:e38154. 2012
    ..In this study, we investigated the feasibility of analyzing single nucleotide polymorphisms using targeted massively parallel sequencing to detect such perturbations in mothers carrying trisomy 21 fetuses...
  89. ncbi Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint
    Mary E Norton
    Department of Obstetrics and Gynecology, Stanford University School of Medicine Lucile Packard Children s Hospital, Stanford, California 94305, USA
    Obstet Gynecol 121:847-50. 2013
    ..detect fetal aneuploidy by analysis of cell-free DNA in maternal plasma represents a tremendous advance in prenatal diagnosis and the culmination of many years of effort by researchers in the field...
  90. ncbi Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011)
    Jaime L Natoli
    University of South Carolina, Columbia, South Carolina, USA
    Prenat Diagn 32:142-53. 2012
    The objective of this study was to review the published literature on pregnancy termination following a prenatal diagnosis of Down syndrome in the United States.
  91. ncbi The introduction of arrays in prenatal diagnosis: a special challenge
    Annalisa Vetro
    Medical Genetics, University of Pavia, Pavia, Italy
    Hum Mutat 33:923-9. 2012
    ..Several studies have documented 1-3% additional abnormal findings in prenatal diagnosis with arrays compared to conventional karyotyping. A recent meta-analysis demonstrated that 5...
  92. ncbi Early prenatal diagnosis of ICF syndrome by mutation detection
    Muriel Rigolet
    U741 INSERM, Paris, France
    Prenat Diagn 27:1075-8. 2007
  93. pmc Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Prenat Diagn 32:396-400. 2012
    ..Of equal import is additional research into patient attitudes and desires, and a better understanding of the full phenotypic spectrum of copy number variants discovered in utero...
  94. ncbi Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y
    Tommy Gerdes
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Prenat Diagn 28:1119-25. 2008
    Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported.
  95. ncbi Cost-effectiveness of rapid point-of-care prenatal syphilis screening in sub-Saharan Africa
    Chara E Rydzak
    MD PhD Program in Health Policy, Harvard Medical School, Boston, MA 02115, USA
    Sex Transm Dis 35:775-84. 2008
    ..We assess the cost-effectiveness of on-site prenatal syphilis screening with newly available rapid point-of-care screening tests in sub-Saharan Africa...
  96. ncbi Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband
    Xin Jing Zhao
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China
    Tohoku J Exp Med 225:273-6. 2011
    ..We report the prenatal diagnosis of CD in a family with a fatal NICCD proband...
  97. ncbi Maternal urine for prenatal diagnosis--an analysis of cell-free fetal DNA in maternal urine and plasma in the third trimester
    Sandra Majer
    Department of Obstetrics and Gynaecology, Medical University Graz, Auenbruggerplatz 14, A 8036 Graz, Austria
    Prenat Diagn 27:1219-23. 2007
    ..The aim of the study was the detection, quantification and correlation of cell-free fetal (cff) DNA in maternal urine and plasma in normal and complicated pregnancies during the third trimester...
  98. ncbi Amniotic fluid proteome analysis from Down syndrome pregnancies for biomarker discovery
    Chan Kyung J Cho
    Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
    J Proteome Res 9:3574-82. 2010
    ..All proteins that showed significant differences between the two conditions were bioinformatically analyzed to preliminarily understand their biological implications in DS...
  99. ncbi Comparison of PCR methods for detecting fetal RhDin maternal plasma
    Johanna Atamaniuk
    Institute of Laboratory Diagnostics, Kaiser Franz Josef Hospital, Vienna, Austria
    J Clin Lab Anal 23:24-8. 2009
    ..Aim of this study was to establish the method yielding the highest sensitivity routinely used to determine fetal RhD type and gender from maternal cell-free plasma DNA in different periods of gestation...
  100. ncbi Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age
    Rossa W K Chiu
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
    Semin Fetal Neonatal Med 16:88-93. 2011
    b>Prenatal diagnosis is an important part of obstetrics care...
  101. pmc Prenatal diagnosis of placenta accreta: sonography or magnetic resonance imaging?
    Bonnie K Dwyer
    Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Stanford University, Stanford, California, USA
    J Ultrasound Med 27:1275-81. 2008
    The purpose of this study was to compare the accuracy of transabdominal sonography and magnetic resonance imaging (MRI) for prenatal diagnosis of placenta accreta.

Research Grants62

  1. ETIOLOGY, HORMONAL CRITERIA OF 3 BETA HSD DEFICIENCY
    Songya Pang; Fiscal Year: 2002
    ..of patients with the 3b-HSD gene mutations b) comparing Ad hormonal profiles in carriers to the genotype; 3) prenatal diagnosis of 3b-HSD CAH in fetuses at risk by a) type II 3b-HSD gene analysis from amniotic and the proband's cells, b)..
  2. Chromosome Analysis of Single Cells
    Brynn Levy; Fiscal Year: 2007
    ..would provide cytogenetic analysis of fetal cells derived from maternal circulation during pregnancy for prenatal diagnosis as well as of single cells obtained from 2-3 day old embryos for preimplantation diagnosis...
  3. Health outcomes and improved phenotypic characterization of cleft lip and palate
    GEORGE WEHBY; Fiscal Year: 2009
    ..Little is also known about the net effects of prenatal diagnosis of CLP, which is becoming increasingly common, on the health outcomes of affected children and their family ..
  4. PGD: Couples Decision Making at the Genetic and Reproductive Interface
    Patricia Hershberger; Fiscal Year: 2009
    ..This relatively new form of genetic screening circumvents conventional forms of prenatal diagnosis by identifying genetic disorders or chromosomal rearrangements prior to establishing uterine implantation ..
  5. Health Care Disparities in the Pacific Islands Pacific Regional Medical Conferenc
    SAIED SAFABAKHSH; Fiscal Year: 2011
    ..and Cessation: Exploring the Role of Discrimination and Ethnic Identity on Tobacco Characteristics Update in Prenatal Diagnosis and Genetics Health on Guam, An epidemiology of chronic disease in Guam Health Disparities in Diabetes ..
  6. NICHD Maternal Fetal Medicine Units Network
    Geeta K Swamy; Fiscal Year: 2013
    ..9 midwives, and 8 nurse clinicians, Duke MFM provides full service high-risk prenatal care and delivery, prenatal diagnosis, and consultative services for the Duke University Health System (DUHS)...
  7. Investigating the pathogenesis of CoQ10 deficiencies
    Catarina M Quinzii; Fiscal Year: 2013
    ..Knowing the cause of CoQ10 deficiency will likely enhance our scientific knowledge of CoQ10 biosynthesis, and will provide molecular tests for accurate genetic counseling, prenatal diagnosis, and more rapid initiation of the therapy.
  8. Feto-maternal DNA/RNA Trafficking: Biology and Application
    Diana W Bianchi; Fiscal Year: 2013
    Project Summary Current means of prenatal diagnosis and screening involve three different types of assays: measurements of serum proteins, fetal imaging through sonography, and chromosome analysis...
  9. Identification of Disease-Causing Mutations in SCID Using Exome-Wide Sequencing
    Joseph L Roberts; Fiscal Year: 2010
    ..cohort of 29 patients is crucial for: 1) better understanding of immune system development and function;2) genetic counseling and prenatal diagnosis;and 3) possible future application of gene therapy to the treatment of these infants.
  10. The role of Sprouty genes in development of mammalian external genitalia
    Ophir D Klein; Fiscal Year: 2012
    ..Thus, there is a need for improved understanding of the etiology of the condition that could lead to better prenatal diagnosis as well as prevention and improved treatments...
  11. Non-Invasive Detection of Fetal Aneuploidy by Next-Generation DNA Sequencing
    DAVID GERARD PETERS; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Prenatal diagnosis of fetal genetic disease has evolved to reach a prominent position in obstetric clinical care...
  12. CNV Atlas of Human Development
    Ronald Wapner; Fiscal Year: 2010
    ..Current multicenter trials are also underway to determine the efficacy of these technologies for prenatal diagnosis. It is very likely that cytogenomic arrays will become the method of choice for both pediatric and prenatal ..
  13. Genetic Analysis of Human First Trimester Trophoblast in Ongoing Pregnancies
    Michael Peter Diamond; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Prenatal diagnosis using cells obtained from the developing conceptus can provide critical information about obstetric pathophysiology and fetal genetics...
  14. 15th International Society for Prenatal Diagnosis Meeting
    Diana W Bianchi; Fiscal Year: 2010
    ..support to defray speaker travel expenses associated with the 15th meeting of the International Society for Prenatal Diagnosis (ISPD), to be held July 11-14, 2010, in Amsterdam, the Netherlands...
  15. Application of MR Spectroscopy Techniques to Animal Models of Obstetric Complicat
    APRIL ELIZABETH RONCA; Fiscal Year: 2010
    ..will lay important groundwork for identification of biomarkers of neuropsychiatric dysfunction and help specify translational goals for prenatal diagnosis and intervention, postnatal care and the establishment of developmental programs.
  16. Non-invasive Aneuploidy Screening of Circulating Fetal Cells for Prenatal Diagnos
    Matthew Rabinowitz; Fiscal Year: 2012
    ..If successful, we expect that the completion of these Aims would have a major impact on the field of prenatal diagnosis, improve the lives of millions of couples and children worldwide, and bring non-invasive diagnosis to the ..
  17. Prevention of Complications of Thalassemia
    Patricia J Giardina; Fiscal Year: 2011
    ..Culturally competent screening, genetic counseling and prenatal diagnosis are also provided on-site and in outreach programs to identify those who can benefit from education, ..
  18. Induced Pluripotent Stem Cells for Modeling Congenital Deafness
    Eri Hashino; Fiscal Year: 2013
    ..The proposed study will provide valuable information on the prenatal diagnosis and targeted treatment of this devastating congenital disorder.
  19. Development of Pluripotent Amniotic Stem Cell Banks for Disease Modeling
    JAMES FREDERICK ELIASON; Fiscal Year: 2011
    ..Human amniotic fluid (AF) cells have been used for prenatal diagnosis of chromosomal and Mendelian disorders for decades...
  20. Parenting after a Prenatal Diagnosis: Expecting the Unexpected
    Anne Chevalier McKechnie; Fiscal Year: 2013
    ..of CAs, a significant knowledge gap remains regarding how parenting takes shape before birth when a prenatal diagnosis is made...
  21. Novel Optical Technique for Recovery of Fetal Cells in Maternal Blood
    Lev T Perelman; Fiscal Year: 2012
    Project Summary Present cell-based techniques of prenatal diagnosis such as amniocentesis, chorionic villus sampling (CVS) and percutaneous umbilical blood sampling (PUBS) are invasive and present significant risks of fetal loss...
  22. Clinical, Pathophysiologic and Therapeutic Studies
    David L Rimoin; Fiscal Year: 2011
    ..2. To define the prenatal presentation of the SDs and improve prenatal diagnosis: Many of the SDs, both lethal and nonlethal, have evidence of skeletal abnormalities in the prenatal period...
  23. Noninvasive prenatal diagnosis using targeted DNA capture and sequencing.
    RONALD WAYNE DAVIS; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Noninvasive prenatal diagnosis using targeted DNA capture and sequencing Abstract: Noninvasive Prenatal Diagnosis (NIPD) is the study of fetal genetic material circulating in maternal peripheral blood,..
  24. Innovative Molecular Platform for Prenatal Diagnostics
    David Scott Johnson; Fiscal Year: 2011
    ..provided by applicant): The goal of this application is to develop a customized molecular platform for prenatal diagnosis that combines our proprietary padlock probe technology with the power of next-generation sequencing...
  25. Prenatal Cytogenetic Diagnosis by Array-based copy number Analysis
    Ronald Wapner; Fiscal Year: 2011
    ..The need for evaluation is particularly important in the area of prenatal diagnosis where comparative genomic hybridization microarray (aCGH) approaches have the potential to significantly ..
  26. PRENATAL CYTOGENETIC DIAGNOSIS BY ARRAY-BASED COPY NUMBER ANALYSES: Follow-up
    Ronald Wapner; Fiscal Year: 2013
    ..These findings make it highly likely that aCNA will become an important part of prenatal diagnosis. However, important additional information is still required to assure a smooth transition to this new ..
  27. X-LINKED OCULAR ALBINISM & RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 1993
    ..loci in order to understand the pathogenesis of these hereditary disorders and to develop better probes for prenatal diagnosis and carrier detection...
  28. CONFERENCE--ISOLATED FETAL CELLS IN MATERNAL BLOOD
    Joe Simpson; Fiscal Year: 1993
    ..possibility of recovering fetal cells from maternal blood has long been a goal for geneticists interested in prenatal diagnosis. This would extend prenatal diagnosis (at least for cytogenetic disorders) to the entire population, not ..
  29. Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis For Inherited
    Lisa Rubin; Fiscal Year: 2009
    ..assisted reproductive technologies (ART), such as preimplantation genetic diagnosis (PGD), as well as prenatal diagnosis (PND) followed by consideration of selective abortion, may enable individuals and couples to avoid passing ..
  30. CONTROL OF CELL DIFFERENTIATION DURING PALATAL FUSION
    Charles F Shuler; Fiscal Year: 2010
    ..of molecular mechanisms essential to the process of palatal fusion will result in future applications to develop prenatal diagnosis strategies and specific interventions to reduce the incidence of human craniofacial birth defects.
  31. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    ROBERT DESNICK; Fiscal Year: 1990
    ..villus sampling (CVS) in the first trimester of pregnancy with amniocentesis in the second trimester for the prenatal diagnosis of genetic disorders...
  32. INBORN ERRORS--MOLECULAR ANALYSIS IN CULTURED CELLS
    Leon Rosenberg; Fiscal Year: 1990
    ..and peripheral occlusive arterial disease; and 5) developing molecular tools which will permit early prenatal diagnosis and reliable heterozygote detection for each of these inborn errors of metabolism...
  33. Robust Cardiac Self-Gating For Fetal Cardiac MRI
    Peng Hu; Fiscal Year: 2013
    ..b>Prenatal diagnosis of CHD allows for improved and better informed decisions on patient management before and after birth...
  34. IN SITU HYBRIDIZATION IN PRENATAL DIAGNOSIS
    Kenneth Castleman; Fiscal Year: 1993
    ..This will reduce the time and cost of prenatal diagnosis and permit extension of the test to a larger segment of the at-risk population...
  35. PHYSICAL MAP OF RP2 AND RP3 LOCI ON HUMAN X-CHROMOSOME
    BRATIN SAHA; Fiscal Year: 1990
    ..3 (RP2) and Xp21.1 (RP3). In spite of numerous genetic linkage data, the carrier detection and prenatal diagnosis of XLRP remains problematic. The RFLP probes available today are not suitable for this purpose...
  36. EVALULATION OF PRENATAL TESTS FOR CHROMOSOMAL DISORDERS
    A Washington; Fiscal Year: 1993
    ..and will generate information which could be used for two purposes: 1) to formulate clinical guidelines for prenatal diagnosis using a preference-based approach and 2) to develop a decision-assisting methodology to assist women and ..
  37. ABNORMAL HEMOGLOBIN SYNTHESIS--MECHANISM AND DETECTION
    YUET KAN; Fiscal Year: 2001
    ..designed to cover most of the mutations in different ethnic groups and geographic areas in order to expedite prenatal diagnosis. Also, because fetal cells are known to cross into maternal circulation early in pregnancy, research will be ..
  38. ANDROGEN METABOLISM IN CHILDHOOD
    Maria New; Fiscal Year: 2006
    ..2) We are the only group in the U.S.A. routinely carrying out prenatal diagnosis and treatment of CAR and thus have accumulated a large population of prenatally-treated infants to- study...
  39. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    David Ledbetter; Fiscal Year: 1990
    Amniocentesis for prenatal diagnosis is currently utilized by 30 to 40 percent of women becoming pregnant over age 35. It's safety and accuracy are well documented. However, it can not be performed until 16 weeks gestation...
  40. Abnormal Hemoglobin Synthesis -- Mechanism and Detection
    YUET KAN; Fiscal Year: 2005
    ..We propose to develop and refine methods of prenatal diagnosis from fetal cells isolated using maternal blood...
  41. WHITE BLOOD CELL OXIDASE IN LEUKEMIA AND NORMAL CELLS
    Peter Newburger; Fiscal Year: 1991
    ..extend preliminary results on the effects of IFN-gamma on CGD phagocytes, develop and refine methods for the prenatal diagnosis of CGD, and determine the molecular nature of genetic defects that cause the disease. V...
  42. PRE-IMPLANTATION DIAGNOSIS OF GENETIC DISEASE
    James Goldberg; Fiscal Year: 1990
    The prenatal diagnosis of genetic disease allows at-risk couples the option of having only unaffected offspring...
  43. The Monolithic Fetal Pacemaker: Prototype and Deployment
    DANIEL ZAVITZ; Fiscal Year: 2001
    ..Broad opportunities for commercialization exit, because of the wide range of its use and the international network of clinicians in the fields of Obstetrics, Cardiac Surgery, Pediatric Cardiology, Electrophysiology and Fetal Surgery. ..
  44. ALPHA-1-PROTEINASE INHIBITOR DEFICIENCY AND EMPHYSEMA
    Savio Woo; Fiscal Year: 1990
    ..genotypes of random individuals and in several instances the gene mapping methodology has been applied for prenatal diagnosis of the genetic disorder...
  45. RANDOMIZED TRIAL OF 11-14 WEEK AMNIOCENTESIS AND TA CVS
    Elizabeth Thom; Fiscal Year: 1999
    ..The purpose of the study is to compare the two prenatal diagnosis techniques with regard to safety, measured primarily by a combined endpoint of fetal loss or preterm ..
  46. RECEPTIVITY TO SICKLE/THAL SCREENING DURING PREGNANCY
    Peter Rowley; Fiscal Year: 1990
    Despite the recent availability of safe, accurate methods for the prenatal diagnosis of sickle cell disease and Cooley's anemia, the majority of children with hemoglobinopathies in the United States are born to unsuspecting parents...
  47. HEMATOLOGICAL DIAGNOSIS OF B THALASSEMIA MUTATIONS
    Pranee Sutcharitchan; Fiscal Year: 1993
    ..the mainstays of therapy in afflicted populations consist of population screening, genetic counseling, and prenatal diagnosis. Accurate diagnosis, on which each of these depends, entails detecting at the DNA level beta-thalassemia ..
  48. PRESCRIPTIVE DECISION MODELING/CYSTIC FIBROSIS SCREEN
    David Asch; Fiscal Year: 1992
    ..6] What is the anticipated impact of future technologic innovation in the detection of CF carriers, in prenatal diagnosis, or in the treatment of CF? [7] What tradeoffs between monetary and nonmonetary effects do the alternative ..
  49. ANDROGEN METABOLISM IN CHILDHOOD--SUPPLEMENT
    Maria New; Fiscal Year: 2000
    ..The foreign PI, Dr. Miroslav Dumic was awarded a Fogarty Grant (FIC 0295F189) to establish a program for prenatal diagnosis and treatment of CAH due to 21-OHD in Croatia. The current grant will continue and amplify these studies...
  50. ALDOLASE GENES IN NORMAL AND FRUCTOSE INTOLERANT HUMANS
    DEAN TOLAN; Fiscal Year: 1991
    ..These studies will lead to methods of carrier detection and prenatal diagnosis in families with a history of the disease...
  51. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    Maurice Mahoney; Fiscal Year: 1990
    Chorionic villous biopsy (CVB) has been introduced as a method of first trimester prenatal diagnosis. The technique of biopsy has become partly standardized and the use of the method is quickly expanding in Europe and North America...
  52. 2009 Mammalian Gametogenesis
    Michael Skinner; Fiscal Year: 2009
    ..New techniques for the treatment of human infertility, for improvements in prenatal diagnosis and in the prevention of birth defects, and for the control of population growth via the development of new ..
  53. ISOLATION OF HUMAN FETAL CELLS FROM MATERNAL BLOOD
    James Leary; Fiscal Year: 1992
    ..fetal cells from maternal blood would permit non-invasive and risk-free monitoring of fetal well-being and prenatal diagnosis of birth defects...
  54. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    MITCHELL GOLBUS; Fiscal Year: 1990
    Chorionic villus biopsy, a technique for obtaining fetal cells for prenatal diagnosis, is now actively being investigated...
  55. RANDOMIZED TRIAL OF ROUTINE PRENATAL ULTRASOUND
    Bernard Ewigman; Fiscal Year: 1991
    ..secondary hypotheses are that routine ultrasound will result in: a) an improvement in the accuracy of the prenatal diagnosis of intrauterine growth retardation, b) a greater proportion of twin gestations diagnosed before 26 weeks ..
  56. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    Mark Evans; Fiscal Year: 2000
    ..main Objective is to develOp a non-invasive, safe, relatively inexpensive and accurate technique for the prenatal diagnosis Of genetic disorders that can be performed during the first trimester...
  57. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    Laird Jackson; Fiscal Year: 2000
    ..main objective is to develop a non-invasive, safe, relatively inexpensive and accurate technique for the prenatal diagnosis of genetic disorders that can be performed during the first trimester...
  58. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    Lee Shulman; Fiscal Year: 2000
    ..main objective is to develop a non-invasive, safe, relatively inexpensive and accurate technique for the prenatal diagnosis of genetic disorders that can be performed during the first trimester...
  59. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    DIANA BIANCHI; Fiscal Year: 2000
    ..main objective is to develop a non-invasive, safe, relatively inexpensive and accurate technique for the prenatal diagnosis of genetic disorders that can be performed during the first trimester...
  60. MAXIMUM LIKELIHOOD MAPPING OF THE HUMAN CHROMOSOMES
    Bronya Keats; Fiscal Year: 1992
    ..Thus accurate linkage (recombination) maps are essential for applying linkage to genetic counseling...
  61. MOLECULAR AND CELLULAR BIOLOGY OF CYSTIC FIBROSIS
    John Riordan; Fiscal Year: 1993
    ..The use of DNA sequences closely linked to the CF locus enables prenatal diagnosis where there is a family history of the disease and lung transplantation is extending the life span of some ..
  62. International Meeting on Gonadotropins
    Steven Birken; Fiscal Year: 2004
    ..correlations through new standards and units, novel clinical applications of measurement of hCG isoforms in prenatal diagnosis and cancer diagnosis and treatment...