chorionic villi sampling

Summary

Summary: A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester.

Top Publications

  1. ncbi [Genetic testing in pregnancy]
    P Miny
    Abteilung Medizinische Genetik, Departement Klinisch Biologische Wissenschaften, Universitäts Kinderspital beider Basel UKBB und Universitäts Frauenspital Basel, Schweiz
    Ther Umsch 60:455-61. 2003
  2. ncbi First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies
    J Toutain
    Fetal Medicine Center, University Hospitals, Bordeaux, France
    Eur J Obstet Gynecol Reprod Biol 149:143-6. 2010
  3. pmc Screening for Down's syndrome: effects, safety, and cost effectiveness of first and second trimester strategies
    R E Gilbert
    Systematic Reviews Training Unit, Department of Paediatric Epidemiology and Biostatistics, Institute of Child Health, London WC1N 1EH
    BMJ 323:423-5. 2001
  4. ncbi [Advantages and limitations of chorionic villous sampling]
    Dominique Carles
    Unite de Pathologie Foetoplacentaire, Service d Anatomie Pathologique, Hopital Pellegrin, 33076 Bordeaux
    Bull Acad Natl Med 193:675-89; discussion 689-90. 2009
  5. ncbi Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3
    Jerome Toutain
    Department of Medical Genetics, Pellegrin University Hospitals Maternity, Bordeaux, France
    Prenat Diagn 30:1155-64. 2010
  6. ncbi Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases
    Jean Luc Brun
    Maternal and Fetal Medicine Unit, Pellegrin University Hospital, Bordeaux, France
    Prenat Diagn 23:295-301. 2003
  7. ncbi Expression of human telomerase reverse transcriptase and correlation with telomerase activity in placentas with and without intrauterine growth retardation
    Toshihiko Izutsu
    Department of Obstetrics and Gynecology, Iwate Medical University, 19 1 Uchimaru, Morioka, Iwate 020 8505, Japan
    Acta Obstet Gynecol Scand 85:3-11. 2006
  8. ncbi Prenatal diagnosis of beta-thalassaemia using fetal erythroblasts enriched from maternal blood by a novel gradient
    E Di Naro
    Department of Obstetrics and Gynecology, University of Bari, Italy
    Mol Hum Reprod 6:571-4. 2000
  9. ncbi Profile of beta-thalassemia in eastern India and its prenatal diagnosis
    Aditi Bandyopadhyay
    Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 A P C Road, Kolkata 700 009, India
    Prenat Diagn 24:992-6. 2004
  10. ncbi Prenatal diagnostic testing and Down Syndrome in Victoria 1992--2002
    Evelyne E Muggli
    Public Health Genetics, Murdoch Childrens Research Institute, Royal Children s Hospital, Victoria
    Aust N Z J Public Health 28:465-70. 2004

Detail Information

Publications246 found, 100 shown here

  1. ncbi [Genetic testing in pregnancy]
    P Miny
    Abteilung Medizinische Genetik, Departement Klinisch Biologische Wissenschaften, Universitäts Kinderspital beider Basel UKBB und Universitäts Frauenspital Basel, Schweiz
    Ther Umsch 60:455-61. 2003
    ..A restrictive legislation has hampered the development of preimplantation genetic diagnosis in German speaking countries, only a few groups work on polar body diagnosis, a legal but restricted alternative...
  2. ncbi First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies
    J Toutain
    Fetal Medicine Center, University Hospitals, Bordeaux, France
    Eur J Obstet Gynecol Reprod Biol 149:143-6. 2010
    ..To examine the reliability of interphase FISH analysis of the main aneuploidies performed on mesenchymal core when prenatal diagnosis was performed on pregnant women with first-trimester fetal abnormalities on ultrasound...
  3. pmc Screening for Down's syndrome: effects, safety, and cost effectiveness of first and second trimester strategies
    R E Gilbert
    Systematic Reviews Training Unit, Department of Paediatric Epidemiology and Biostatistics, Institute of Child Health, London WC1N 1EH
    BMJ 323:423-5. 2001
    ..To compare the effects, safety, and cost effectiveness of antenatal screening strategies for Down's syndrome...
  4. ncbi [Advantages and limitations of chorionic villous sampling]
    Dominique Carles
    Unite de Pathologie Foetoplacentaire, Service d Anatomie Pathologique, Hopital Pellegrin, 33076 Bordeaux
    Bull Acad Natl Med 193:675-89; discussion 689-90. 2009
    ..Being a simple and inexpensive examination, histopathologic analysis of CVS could be performed systematically in this indication. Its value and diagnostic signs in other settings need to be determined in larger series...
  5. ncbi Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3
    Jerome Toutain
    Department of Medical Genetics, Pellegrin University Hospitals Maternity, Bordeaux, France
    Prenat Diagn 30:1155-64. 2010
    ..To study the influence of types 2 and 3 confined placental mosaicism (CPM) on pregnancy outcome...
  6. ncbi Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases
    Jean Luc Brun
    Maternal and Fetal Medicine Unit, Pellegrin University Hospital, Bordeaux, France
    Prenat Diagn 23:295-301. 2003
    ..To evaluate the feasibility, accuracy and safety of chorionic villus sampling (CVS)...
  7. ncbi Expression of human telomerase reverse transcriptase and correlation with telomerase activity in placentas with and without intrauterine growth retardation
    Toshihiko Izutsu
    Department of Obstetrics and Gynecology, Iwate Medical University, 19 1 Uchimaru, Morioka, Iwate 020 8505, Japan
    Acta Obstet Gynecol Scand 85:3-11. 2006
    ..Human telomerase reverse transcriptase has been found in telomerase-positive tumor tissues, but not in telomerase-negative nonmalignant somatic cells...
  8. ncbi Prenatal diagnosis of beta-thalassaemia using fetal erythroblasts enriched from maternal blood by a novel gradient
    E Di Naro
    Department of Obstetrics and Gynecology, University of Bari, Italy
    Mol Hum Reprod 6:571-4. 2000
    ..To date, this represents the largest series of non-invasive prenatal diagnoses performed for this haemoglobinopathy...
  9. ncbi Profile of beta-thalassemia in eastern India and its prenatal diagnosis
    Aditi Bandyopadhyay
    Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 A P C Road, Kolkata 700 009, India
    Prenat Diagn 24:992-6. 2004
    ..To control the birth of thalassemic children in India...
  10. ncbi Prenatal diagnostic testing and Down Syndrome in Victoria 1992--2002
    Evelyne E Muggli
    Public Health Genetics, Murdoch Childrens Research Institute, Royal Children s Hospital, Victoria
    Aust N Z J Public Health 28:465-70. 2004
    ..To describe patterns of uptake of prenatal diagnostic testing and prenatal detection rates for Down syndrome in Victoria with regard to maternal age and prenatal screening practices...
  11. ncbi Health-related quality-of-life assessment of prenatal diagnosis: chorionic villi sampling and amniocentesis
    David Feeny
    Institute of Health Economics, Edmonton, Alberta, Canada
    Genet Test 6:39-46. 2002
    This study assesses the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA), including both process and outcomes of prenatal diagnosis...
  12. ncbi Prenatal diagnosis for women aged 37 years and over: to have or not to have
    J L Halliday
    Epidemiology and Genetics Unit, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia
    Prenat Diagn 21:842-7. 2001
    ..Only 6% were not offered a test, but this small proportion is over-represented by minority groups who must be given equal opportunity to make this choice...
  13. ncbi Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21
    Sophie Brisset
    Service de Génétique et Reproduction, AP HP, Hopital Antoine Beclere, Clamart, France
    Prenat Diagn 23:461-9. 2003
    ..We report on two prenatal diagnoses in which karyotypes showed mosaicism with an aberrant cell line, including a structural rearrangement of chromosome 21...
  14. ncbi Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15
    A Coulomb L'Herminé
    Service d Anatomie Pathologique, Hopital Antoine Beclere, Clamart, France
    Prenat Diagn 23:938-43. 2003
    ..This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS...
  15. ncbi Prenatal medicine related to stress and depressive reactions of pregnant women and their partners
    Ingrid Kowalcek
    Division of Prenatal Medicine, Department of Obstetrics and Gynecology, Medical University of Lubeck, Germany
    J Perinat Med 31:216-24. 2003
    ....
  16. ncbi A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome
    Eileen Roberts
    Regional Genetics Laboratories, Birmingham Women s Hospital NHS Trust, Edgbaston, Birmingham B15 2TG, UK
    Prenat Diagn 23:564-5. 2003
    ..To add to the knowledge base concerning confined placental mosaicism for trisomy 2...
  17. ncbi Trisomies and other chromosome abnormalities detected after positive sonographic findings
    Artur Beke
    1st Department of Obstetrics and Gynecology, Semmelweis University Medical School, Budapest, Hungary
    J Reprod Med 50:675-91. 2005
    ..To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy...
  18. ncbi Prenatal control of Hb Bart's disease in southern China
    Can Liao
    Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, PR China
    Hemoglobin 31:471-5. 2007
    ..Ultrasonography is now playing a major role in prenatal control of Hb Bart's disease in our region, and limits the invasive procedures to the few patients identified to be at high risk...
  19. ncbi Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk
    Ellen G Pfendner
    Department of Dermatology, Jefferson Medical College and The Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia 19107, USA
    Prenat Diagn 23:447-56. 2003
    ..Overall, the availability, relative ease, and over 98% success rate make molecular DNA-based prenatal diagnosis a viable option for EB families at risk...
  20. ncbi Womens' preference in Down syndrome screening
    Irene M de Graaf
    Department of Obstetrics and Gynaecology, Academic Medical Centre, Amsterdam, The Netherlands
    Prenat Diagn 22:624-9. 2002
    ..To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed...
  21. ncbi Prenatal diagnosis of trisomy 21: registration results from a single genetic center
    I Witters
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genet Couns 19:157-63. 2008
    ....
  22. ncbi Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters
    Maryse Bonduelle
    Centre for Medical Genetics and Centre for Reproductive Medicine, Dutch Speaking Brussels Free University Vrije Universiteit Brussel, Belgium
    Hum Reprod 17:2600-14. 2002
    ..Prenatal testing was offered in all pregnancies obtained after ICSI with ejaculated or non-ejaculated sperm as part of the evaluation of the safety of ICSI...
  23. ncbi Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
    Yan Hong Gu
    Department of Pediatrics, School of Medicine, Teikyo University, 2 11 1 Kaga, Itabashi ku, Tokyo 173 8606, Japan
    Brain Dev 24:715-8. 2002
    ..As his early treatment with parenteral copper-histidine prevented the neurological disorders effectively, prenatal diagnosis is very important...
  24. ncbi Prenatal genetic diagnosis of Down's syndrome
    Mary Alice Abbott
    Connecticut Children s Medical Center, 282 Washington Street, Hartford, CT 06106, USA
    Expert Rev Mol Diagn 2:605-15. 2002
    ..Molecular genetic techniques are augmenting traditional chromosome analysis, broadening the range of identifiable genetic disorders and allowing earlier results...
  25. ncbi Clinical proceduress in prenatal diagnosis
    Barbara Eisenberg
    MCP Hahnemann University, Philadelphia, Pennsylvania, USA
    Best Pract Res Clin Obstet Gynaecol 16:611-27. 2002
    ..The laboratory analysis of both procedures is reliable. Chorionic villus sampling has a 1-2% incidence of confined placental mosaicism, requiring additional evaluation in some cases...
  26. ncbi Prenatal diagnosis of mosaic trisomy 20 in New Zealand
    Paul A James
    Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand
    Aust N Z J Obstet Gynaecol 42:486-9. 2002
    ..We aimed to identify known mosaic trisomy 20 pregnancies in New Zealand in the last 10 years and document their outcome...
  27. ncbi [Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome]
    Susanne Kjaergaard
    Kennedy Centret, Glostrup Hospital, gynaekologisk obstetrisk afdeling, Glostrup
    Ugeskr Laeger 170:1152-6. 2008
    ..We have reviewed prenatal and postnatal chromosome aberrations in 3 counties in Denmark during the years of implementation in 2004, 2005 and 2006...
  28. ncbi Prenatally detected trisomy 20 mosaicism
    W P Robinson
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Prenat Diagn 25:239-44. 2005
    ..Because of the lack of molecular studies on such cases, it is unknown whether the origin of trisomy or presence of uniparental disomy (UPD) could have some influence on outcome...
  29. ncbi Early second-trimester diagnosis of monozygotic twins discordant for cystic hygroma colli and Turner syndrome
    Chih Ping Chen
    Prenat Diagn 23:352-3. 2003
  30. ncbi Prospective ranking of the sonographic markers for aneuploidy: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound
    Art Daniel
    Department of Cytogenetics, Western Sydney Genetics Program, Children s Hospital at Westmead, NSW, Australia
    Aust N Z J Obstet Gynaecol 43:16-26. 2003
    ....
  31. ncbi [Webbing of the neck and nasal bone--prenatal screening for Down syndrome]
    Sidsel Svennekjaer
    Ultralydklinikken 4023, JMC, H S Rigshospitalet, DK 2100 København Ø
    Ugeskr Laeger 165:1768-71. 2003
    ..The combination of nuchal translucency and visualisation of the nasal bone between gestational age 11 weeks and 13 + 6 has turned out to be as good a predictive marker as nuchal translucency and integrated hormone test...
  32. ncbi Screening for DMD/BMD deletion carriers by fluorescence in situ hybridization
    Yanping Xiao
    Shanghai Institute of Planned Parenthood Research, 2140 Xie Tu Road, Shanghai 200032, People s Republic of China
    Genet Test 7:195-201. 2003
    ..FISH, in combination with other available techniques, allowed efficient screening of DMD/BMD deletion carriers. The study also offered preliminary results in support of an approach to prenatal diagnosis of potential fetal carriers...
  33. ncbi Maternal age-specific fetal loss rates in Down syndrome pregnancies
    George M Savva
    Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, UK
    Prenat Diagn 26:499-504. 2006
    ..In this article, we investigate the relationship between maternal age and the risk of spontaneous fetal loss in DS pregnancies...
  34. ncbi Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism
    Sylvie Langlois
    Department of Medical Genetics, University of British Columbia, Canada
    Prenat Diagn 26:548-58. 2006
    ..To determine the long-term outcome of pregnancies prenatally diagnosed with trisomy 16 and identify variables associated with the outcome...
  35. ncbi Detection of alpha-thalassemia in beta-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening
    Dongzhi Li
    Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, China
    Haematologica 91:649-51. 2006
    ..The results showed that molecular analysis must be used for accurate diagnosis of double heterozygotes in couples presumed to be discordant for alpha- and beta-thalassemia on hematologic testing...
  36. ncbi Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
    R Motaghedi
    Department of Pediatrics, The New York Presbyterian Hospital Weill Medical College of Cornell University, USA
    J Pediatr Endocrinol Metab 18:133-42. 2005
    ..In another family, the fetus was a male homozygous for R384Q and treatment was discontinued. Lastly, a novel G444D mutation in exon 8 was identified and proven to reduce 11beta-hydroxylase activity...
  37. ncbi Invasive prenatal diagnostic techniques
    Ronald J Wapner
    Division of Maternal Fetal Medicine, Columbia University Medical Center, New York, NY 10032, USA
    Semin Perinatol 29:401-4. 2005
    ..When CVS procedures are performed after 10 weeks gestation, no increased risk of fetal anomalies has been demonstrated...
  38. ncbi Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes
    Anna Lisa Nucaro
    Istituto di Neurogenetica e Neurofarmacologia, CNR Selargius, Via Boccaccio 8, 09047 Selargius, Cagliari, Italy
    Prenat Diagn 26:418-9. 2006
    ..In the first trimester, cytogenetic analysis after chorionic villi sampling (CVS) was normal in all metaphases in the short-term cytotrophoblast cell culture, but an undefined ..
  39. ncbi Prospective audit of a one-centre combined nuchal translucency and triple test programme for the detection of trisomy 21
    Vijayalakshmi Babbur
    Division of Fetal Maternal Medicine, Rosie Maternity Hospital, Cambridge, UK
    Prenat Diagn 25:465-9. 2005
    ..To determine detection and false-positive rates for trisomy 21 using two-stage combined nuchal translucency (NT) and triple testing, whilst disclosing abnormal nuchal measurements at the scan...
  40. ncbi Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment
    Allan Caine
    Regional Cytogenetics Unit, St James University Hospital, Leeds, UK
    Lancet 366:123-8. 2005
    ..The UKNSC also recommended that FISH or PCR tests should only include trisomies 13, 18, and 21. We undertook a retrospective cytogenetic audit to assess the probable clinical effect of these proposed policy changes...
  41. ncbi Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies
    Oliver Bartsch
    Institute for Human Genetics, Mainz University School of Medicine, Mainz, Germany
    Eur J Hum Genet 13:1192-204. 2005
    ..Findings illustrate the spectrum and clinical outcomes of prenatally diagnosed SMCs, and indicate a higher frequency of SMCs than generally assumed...
  42. ncbi Evaluation of Down syndrome screening strategies
    Katharine D Wenstrom
    Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, Birmingham, AL 35233, USA
    Semin Perinatol 29:219-24. 2005
    ..3%) can be achieved with contingent screening, in which all women undergo first trimester screening and only a portion (25%) go on to second trimester screening...
  43. ncbi First-trimester screening for trisomy 21 in twin pregnancy: does the addition of biochemistry make an improvement?
    Anna Gonce
    Prenatal Diagnosis Unit, Institute of Gynecology, Obstetrics and Neonatology, Hospital Clinic, University of Barcelona Medical School, Barcelona, Catalonia, Spain
    Prenat Diagn 25:1156-61. 2005
    ..To evaluate the effectiveness of the addition of first-trimester biochemistry to fetal nuchal translucency (NT) measurement in the Combined Test when screening for trisomy 21 in twin pregnancies...
  44. ncbi Prenatal diagnosis of hemoglobinopathies in Ontario, Canada
    Raveen K Basran
    Department of Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada
    Ann N Y Acad Sci 1054:507-10. 2005
    ..Despite the availability of services for carrier screening, genetic counseling, and prenatal diagnosis, there has been only a modest reduction in the overall incidence of hemoglobinopathies in Ontario...
  45. ncbi Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis
    Celia Donaghue
    Cytogenetics Department, Genetics Centre, Guy s and St Thomas Hospital Trust, London, UK
    Prenat Diagn 25:65-72. 2005
    ....
  46. ncbi Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping
    Taita Stojilkovic-Mikic
    Cytogenetics Department, Guy s and St Thomas Hospital NHS Foundation Trust, London, UK
    Prenat Diagn 25:79-83. 2005
    ....
  47. ncbi Should prenatal diagnostic testing be offered to all pregnant women on economic grounds?
    Stavros Petrou
    National Perinatal Epidemiology Unit, Institute of Health Sciences, OX3 7LF, Oxford, UK
    Lancet 363:258-9. 2004
  48. ncbi Cost utility of prenatal diagnosis and the risk-based threshold
    Ryan A Harris
    Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA, USA
    Lancet 363:276-82. 2004
    ..We aimed to assess the economic validity of thresholds based on age or risk for offering invasive prenatal diagnosis...
  49. ncbi Invasive fetal testing
    Robert H Ball
    Division of Perinatology and Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, 94143 0132, USA
    Curr Opin Obstet Gynecol 16:159-62. 2004
    ..Several studies that will have a profound impact on the way prenatal care will be provided to pregnant women have been published in the literature during the last year. These publications will be reviewed and their impact described...
  50. ncbi Is nuchal translucency screening associated with different rates of invasive testing in an older obstetric population?
    Stephen T Chasen
    Department of Obstetrics and Gynecology, Weill Medical College of Cornell University, New York, NY, USA
    Am J Obstet Gynecol 190:769-74. 2004
    ..Our objective was to assess the impact of nuchal translucency screening for aneuploidy on chorionic villus sampling and amniocentesis rates in an older obstetric population...
  51. ncbi [Chorionic villus sampling and amniocentesis: invasive procedures and their risks in current prenatal diagnostic practice]
    Csaba Papp
    Semmelweis Egyetem, Általános Orvostudományi Kar, I Szülészeti és Nogyógyászati Klinika, Budapest
    Orv Hetil 145:315-21. 2004
    ..Risk factors and different conditions, modifying the procedure-related risk are discussed in the paper together with new chapters of prenatal diagnosis...
  52. ncbi Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience
    B Chadefaux-Vekemans
    Service de Biochimie B, Groupe Hospitalier Necker Enfants Malades, Paris, France
    Prenat Diagn 26:814-8. 2006
    ..In addition, we report the result of 59 prenatal diagnoses performed at 12-13th week using amniotic fluid only...
  53. ncbi Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation
    Markus Hengstschlager
    Obstetrics and Gynecology, Prenatal Diagnosis and Therapy, Medical University of Vienna, Vienna, Austria
    Prenat Diagn 24:623-6. 2004
    ..To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation...
  54. ncbi [Prenatal investigations for Down's syndrome: medical-technical considerations and dilemmas arising from current screening methods]
    E W M Grijseels
    afd Verloskunde en Vrouwenziekten, Erasmus Medisch Centrum, Dr Molewaterplein 40, 3015 GD Rotterdam
    Ned Tijdschr Geneeskd 148:2166-71. 2004
    ..The choice whether to have prenatal screening should always be made by the parents after they have been told of the advantages and disadvantages of these investigations...
  55. ncbi If nuchal translucency screening is combined with first-trimester serum screening the need for fetal karyotyping decreases
    Anna Marsk
    Ultragyn, Odengatan 69, 8tr, S 113 22 Stockholm, Sweden
    Acta Obstet Gynecol Scand 85:534-8. 2006
    ....
  56. ncbi Prenatal diagnosis of free sialic acid storage disorders (SASD)
    Nina Aula
    Neuroscience Center, University of Helsinki, Finland
    Prenat Diagn 26:655-8. 2006
    ..Earlier, eight prenatal studies were performed by measuring the free sialic acid concentration in chorionic villus samples...
  57. ncbi Four-dimensional ultrasound guidance of prenatal invasive procedures
    S R Kim
    Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
    Ultrasound Obstet Gynecol 26:663-5. 2005
    ..Technological advances in ultrasonography have revolutionized prenatal diagnosis and treatment. Here we evaluate the effectiveness of using four-dimensional (4D) ultrasonography to guide prenatal invasive procedures...
  58. ncbi Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study
    D W Bianchi
    Division of Genetics, Departments of Pediatrics, Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA
    Prenat Diagn 22:609-15. 2002
    ..The initial objective was to assess the utility of fetal cells in the peripheral blood of pregnant women to diagnose or screen for fetal chromosome abnormalities...
  59. ncbi Short-term safety of celocentesis for the mother and the fetus
    G Makrydimas
    Department of Obstetrics and Gynaecology, Ioannina University Hospital, Ioannina, Greece
    Ultrasound Obstet Gynecol 19:243-5. 2002
    ..Celocentesis offers the potential for prenatal diagnosis from as early as 6 weeks of gestation. The aim of this study was to examine the short-term safety of celocentesis...
  60. ncbi The loss rates for invasive prenatal testing in a specialised obstetric ultrasound practice
    Fergus Scott
    Sydney Ultrasound for Women, New South Wales, Australia
    Aust N Z J Obstet Gynaecol 42:55-8. 2002
    ..To establish the spontaneous miscarriage rate and compare it with the procedure related miscarriage rate for amniocentesis and chorionic villus sampling (CVS) by experienced operators...
  61. ncbi Nuchal translucency and the acceptance of invasive prenatal chromosomal diagnosis in women aged 35 and older
    M A Zoppi
    Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Microcitemico, Cagliari, Italy
    Obstet Gynecol 97:916-20. 2001
    ..Risks of transabdominal chorionic villi sampling (CVS) and amniocentesis, laboratory techniques, genetic results, and local experiences were discussed...
  62. ncbi Psychological distress before and after prenatal invasive karyotyping
    M Cederholm
    Department of Women's and Children's Health, Section of Obstetrics and Gynaecology, Uppsala University, Uppsala, Sweden
    Acta Obstet Gynecol Scand 80:539-45. 2001
    ..However, a certain number of women report distress and anxiety which should be attended to by professionals involved in fetal invasive procedures. These women may benefit from more support...
  63. ncbi [Confined placental mosaicism: definition, consequences and outcome]
    G Viot
    Service de Gynécologie Obstétrique Pr Cabrol, Maternite Port Royal, 123, boulevard de Port Royal, 75014 Paris
    J Gynecol Obstet Biol Reprod (Paris) 31:2S70-4. 2002
    ..However, a few specific chromosomal abnormalities have been associated with fetal growth retardation. Fetal karyotype should be checked by amniocentesis and such pregnancies should have careful ultrasound follow-up...
  64. ncbi Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate
    Shira Silverstein
    Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem 91120, Israel
    Prenat Diagn 22:649-51. 2002
    ....
  65. ncbi Teaching ultrasound-guided invasive procedures in fetal medicine: learning curves with and without an electronic guidance system
    J Nizard
    Fetal Medicine Unit, Paris Ouest University, CHI, Poissy, France
    Ultrasound Obstet Gynecol 19:274-7. 2002
    ..To compare the learning curves of inexperienced junior obstetrics/gynecology registrars for ultrasound-guided invasive procedures on a training model, with and without an electronic guidance system...
  66. ncbi [Fears of pregnant women if prenatal examination yields or does not yield any findings]
    I Kowalcek
    Bereich Pränatale Medizin der Klinik für Frauenheilkunde und Geburtshilfe des Universitätsklinikums Lübeck, Germany
    Zentralbl Gynakol 124:170-5. 2002
    ..Besides a medical point of view, prenatal diagnosis also has psychological effects on the pregnant woman. We studied the state of anxiety before and after prenatal examination with unsuspicious and suspicious prenatal findings...
  67. ncbi Prenatal evaluation for fetal surgery
    R Douglas Wilson
    The Center for Fetal Diagnosis and Treatment at the Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Curr Opin Obstet Gynecol 14:187-93. 2002
    ..Ongoing evaluation of the sensitivity, specificity, positive and negative predicted values of these evaluation tools is required so that appropriate selection of fetuses for the surgery can be made...
  68. ncbi Umbilical cord diameter at 11-14 weeks of gestation: relationship to nuchal translucency, ductus venous blood flow and chromosomal defects
    R Axt-Fliedner
    Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University of Schleswig Holstein, Campus Lubeck, Germany
    Fetal Diagn Ther 21:390-5. 2006
    ..To compare the umbilical cord diameter (UCD) in euploid and aneuploid fetuses at 11-14 weeks of gestation...
  69. ncbi Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks
    M Borenstein
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital, London, UK
    Ultrasound Obstet Gynecol 32:5-11. 2008
    ....
  70. ncbi Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis
    Maimoona Hafeez
    Department of Obs Gynae, Lahore Medical and Dental College, Lahore
    J Coll Physicians Surg Pak 17:144-7. 2007
    ..To determine the regional and ethnic distribution of beta thalassemia mutation and the effect of consanguinity in patients referred for prenatal diagnosis of beta b-thalassemia and to target the high risk population for screening...
  71. ncbi Sonographic early fetal gender assignment: a longitudinal study in pregnancies after in vitro fertilization
    V Mazza
    Obstetric and Gynecology Unit and Medical Genetics, Department of Obstetric, Gynecologic and Pediatric Sciences, University of Modena and Reggio Emilia, Italy
    Ultrasound Obstet Gynecol 17:513-6. 2001
    ....
  72. ncbi History of miscarriage and increased incidence of fetal aneuploidy in subsequent pregnancy
    Katherine Bianco
    Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California 94143, USA
    Obstet Gynecol 107:1098-102. 2006
    ..The purpose of this study was to examine the association between history of spontaneous abortion and aneuploidy in a subsequent pregnancy...
  73. ncbi Prenatal diagnosis of Glanzmann thrombasthenia
    Alok Srivastava
    Department of Haematology, Christian Medical College, Vellore 632004, Tamil Nadu, India
    Natl Med J India 16:207-8. 2003
    ..Platelet transfusions are often needed to control the bleeding. Glanzmann thrombasthenia results from mutations in the genes located on chromosome 17q21-23, encoding the platelet glycoprotein (GP) IIb/IIIa receptor...
  74. pmc Rapid prenatal diagnosis of trisomy 21 by real-time quantitative polymerase chain reaction with amplification of small tandem repeats and S100B in chromosome 21
    Young Ho Yang
    Department of Obstetrics and Gynecology, Yonsei University College of Medicine, 134 Shinchon dong, Seodaemun gu, Seoul 120 752, Korea
    Yonsei Med J 46:193-7. 2005
    ..Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs...
  75. pmc Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases
    Lin Ye
    Department of Medicine, University of California, San Francisco, CA 94143 0793, USA
    Proc Natl Acad Sci U S A 106:9826-30. 2009
    ..Early treatment has the advantage of requiring much fewer cells than adult treatment, and can also prevent organ damage in those diseases in which damage can begin in utero or at an early age...
  76. ncbi Fronto-nasal dysplasia and atrio-ventricular canal in a fetus with trisomy 18 identified by absent nasal bones during first trimester screening scan
    Gabriele Tonni
    Division of Obstetrics and Gynecology, Guastalla Civil Hospital, AUSL Reggio Emilia, Emilia, Italy
    Congenit Anom (Kyoto) 47:45-8. 2007
    ....
  77. ncbi Preimplantation genetic diagnosis as an alternative to amniocentesis and chorionic villus sampling: psychosocial and ethical aspects
    M M Vergeer
    SCO Kohnstamm Institute, University of Amsterdam, Netherlands
    Patient Educ Couns 35:5-13. 1998
    ..The general public should be informed about possibilities and impossibilities of preventive diagnosis and the right of future parents not to use genetic diagnosis...
  78. ncbi Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome
    M Zaki
    Prenatal Diagnosis Unit, Women s Centre, Oxford Radcliffe Hospital, Headington, Oxford, UK
    Ultrasound Obstet Gynecol 29:284-8. 2007
    ..The objective of this study was to assess the maternal and prenatal ultrasound findings and outcome in pregnancies complicated by congenital myotonic dystrophy Type 1 (DM1)...
  79. ncbi A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester: a pilot study
    Martin J N Weinans
    Antenatal Diagnosis Unit, Department of Obstetrics and Gynaecology, University Hospital Groningen, The Netherlands
    Prenat Diagn 24:347-51. 2004
    ..To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands...
  80. ncbi The mitral gap at 11 + 0 to 13 + 6 weeks: marker of trisomy 21 or artifact?
    N Maiz
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital Medical School, London, UK
    Ultrasound Obstet Gynecol 30:813-8. 2007
    ..To investigate the possible association between a particular pulsed Doppler waveform pattern, mitral gap, and trisomy 21 at 11 + 0 to 13 + 6 weeks...
  81. ncbi Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness
    N Maiz
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital, London, UK
    Ultrasound Obstet Gynecol 31:256-60. 2008
    ....
  82. ncbi Increased nuchal translucency and distended jugular lymphatic sacs on first-trimester ultrasound
    M N Bekker
    Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands
    Ultrasound Obstet Gynecol 25:239-45. 2005
    ..To investigate the presence and volume of jugular lymphatic sacs (JLS) in first-trimester fetuses with normal nuchal translucency thickness (NT) and in those with increased NT...
  83. ncbi Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature
    Emmanouil Manolakos
    Vioiatriki SA Molecular Diagnostics Laboratory, Greece
    J Obstet Gynaecol Res 36:435-40. 2010
    ..b>Chorionic villi sampling (CVS) was performed after genetic counseling...
  84. ncbi Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk
    E Zoref-Shani
    Department of Chemical Pathology, Sackler Faculty of Medicine, Tel Aviv University, Israel
    Prenat Diagn 9:657-61. 1989
    ..We report the diagnosis of normal fetuses by study of amniocytes in two pregnancies and of LNS using CVS in one pregnancy. In all three cases the diagnosis was confirmed...
  85. ncbi Fabricating a face: the essence of embryology in the dental curriculum
    G H Sperber
    Department of Dentistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2N8, Canada
    J Dent Educ 67:370-4. 2003
    ..Embryology must now form the essential core of the basic sciences in medical and dental curricula. Future dental practice will become rooted in the genetics and morphogenesis of facial fabrication...
  86. ncbi Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa
    H Fassihi
    Genetic Skin Disease Group, St John s Institute of Dermatology, The Guy s, King s College and St Thomas School of Medicine, Lambeth Palace Road, London SE1 7EH, UK
    J Dermatol Sci 42:241-8. 2006
    ..There is currently no effective treatment but DNA-based prenatal testing in families at risk of recurrence is possible, mostly involving chorionic villus sampling at 10-11 weeks' gestation...
  87. ncbi Cardiac tamponade: an alternative procedure for late feticide
    Chia Hsiang Chen
    Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan
    Taiwan J Obstet Gynecol 48:159-62. 2009
    ..In this study, we propose a new method of feticide using injection of normal saline into the fetal pericardial space to induce cardiac tamponade, resulting in late fetal reduction with minimal maternal risk...
  88. ncbi Carrier testing and prenatal diagnosis of haemophilia--utilisation and psychological consequences
    U Tedgård
    Department of Paediatrics, University of Lund, Malmo University Hospital, Sweden
    Haemophilia 4:365-9. 1998
    ..Nevertheless, they must be offered qualified assistance both before and after PD as well as adequate follow-up after an abortion to help them cope with the emotional strain they are under...
  89. ncbi Acceptability of serum screening as an alternative to cytogenetic diagnosis of down syndrome among women 35 years or older in Hong Kong
    Y H Lam
    Department of Obstetrics and Gynaecology, The University of Hong Kong, Tsan Yuk Hospital, Hong Kong, China
    Prenat Diagn 20:487-90. 2000
    ..The decision as to whether to undergo an invasive diagnostic procedure or to be content with the relatively safer but less accurate screening test varies, being affected by the women's background and culture...
  90. ncbi Prenatal typing of Rh and Kell blood group system antigens: the edge of a watershed
    C Ellen van der Schoot
    Department of Experimental Immunohematology, Sanquin Division, CLB and Laboratory for Experimental and Clinical Immunology, Academic Medical Center, University of Amsterdam, The Netherlands
    Transfus Med Rev 17:31-44. 2003
    ..Assays for the genotyping of the other Rh antigens or Kell antigens with cell-free fetal DNA have not yet been described...
  91. ncbi Studies of the mechanism of amniotic sac puncture-induced limb abnormalities in mice
    M H Kaufman
    Department of Anatomy, University Medical School, Edinburgh, United Kingdom
    Int J Dev Biol 44:161-75. 2000
    ..Cleft palate, tail abnormalities and abnormalities of sternal ossification are also observed in our model...
  92. ncbi Molybdenum cofactor deficiency: first prenatal genetic analysis
    J Reiss
    Institut für Humangenetik der Universität, Gottingen, Germany
    Prenat Diagn 19:386-8. 1999
    ..This confirmed that the fetus was not affected, since heterozygous carriers of a MoCo deficiency allele do not display any symptoms...
  93. ncbi First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus
    Gabriele Tonni
    Division of Obstetrics and Gynecology, Guastalla Civil Hospital, Guastalla, Reggio Emilia, Italy
    Congenit Anom (Kyoto) 48:51-5. 2008
    ..Images obtained by 3D ultrasound gave detailed insight into this ventral midline anomaly, depicting much of the disordered prosencephalic development...
  94. ncbi Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases
    Waldo Sepulveda
    Fetal Medicine Center, Clinica Las Condes, Casilla 208, Santiago 20, Chile
    J Ultrasound Med 28:1077-80. 2009
    ..The purpose of this series is to describe the first-trimester sonographic findings leading to the diagnosis of monosomy 18p...
  95. ncbi Frontomaxillary facial angle in chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks
    M Borenstein
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital, London, UK
    Ultrasound Obstet Gynecol 30:737-41. 2007
    ..To establish the normal range of the frontomaxillary facial (FMF) angle at 11 + 0 to 13 + 6 weeks of gestation...
  96. ncbi Prenatal diagnosis of trisomy 18: report of 30 cases
    Jae Hyug Yang
    Department of Obstetrics and Gynecology, Samsung Cheil General Hospital and Women s Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Prenat Diagn 25:119-22. 2005
    ..To review the detection rate of the prenatal screening tests used for the diagnosis of the trisomy 18...
  97. pmc Jacobsen syndrome
    Teresa Mattina
    Genetica Medica, Department of Pediatrics, University of Catania, Catania, Italy
    Orphanet J Rare Dis 4:9. 2009
    ..For patients who survive the neonatal period and infancy, the life expectancy remains unknown...
  98. ncbi Outcome of first-trimester chorionic villus sampling for genetic investigation in multiple pregnancy
    B Brambati
    First Department of Obstetrics and Gynecology, University of Milan, Milan, Italy
    Ultrasound Obstet Gynecol 17:209-16. 2001
    ..To evaluate the efficacy of and risk associated with chorionic villus sampling for genetic investigations in multiple pregnancies, and to evaluate the accuracy of the ultrasonographic detection of chorionicity during the first trimester...
  99. ncbi Human molecular cytogenetics: diagnosis, prognosis, and disease management
    Kiran Kucheria
    Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
    Teratog Carcinog Mutagen . 2003
    ..aneuploidies of chromosomes 13, 18, 21, X, and Y using FISH on uncultured cells from amniotic fluid and chorionic villi sampling. The screening for common aneuploidies was extended to abortuses from spontaneous abortions...
  100. ncbi The nasal bone in fetuses with trisomy 21: sonographic versus pathomorphological findings
    S Minderer
    Prenatal Medicine Munich, Red Cross Women s Hospital, Germany
    Ultrasound Obstet Gynecol 22:16-21. 2003
    ..To compare the sonographic findings of the nasal bone in fetuses with trisomy 21 with pathomorphological findings to determine whether the bone is truly absent...
  101. ncbi Prenatal diagnosis of beta-thalassemia in Southern China
    Dongzhi Li
    Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong 510180, PR China
    Eur J Obstet Gynecol Reprod Biol 128:81-5. 2006
    ..To control the birth of thalassemic children in Southern China...

Research Grants36

  1. Adverse Outcomes of Assisted Reproductive Technologies: Genetics or Epigenetics?
    Margareta Pisarska; Fiscal Year: 2013
    ....
  2. Non-Invasive Detection of Fetal Aneuploidy by Next-Generation DNA Sequencing
    DAVID GERARD PETERS; Fiscal Year: 2013
    ....
  3. Non-invasive Aneuploidy Screening of Circulating Fetal Cells for Prenatal Diagnos
    Matthew Rabinowitz; Fiscal Year: 2012
    ..Our innovative technology has the potential to evaluate the health of an unborn child by simply analyzing the mother's blood, thereby minimizing the risks of the procedure and expanding prenatal screening to the general population. ..
  4. Rapid non-invasive prenatal Down syndrome detection using a DNA-molecule counter
    Glenn Fu; Fiscal Year: 2013
    ..Additionally, we have established collaborations with Ronald Davis at the Stanford University Genome Technology Center, giving us access to instruments and expertise available at this world class research facility. ..
  5. Novel Optical Technique for Recovery of Fetal Cells in Maternal Blood
    Lev T Perelman; Fiscal Year: 2012
    ..This will lead to a clinically useful method for prenatal genetic testing. ..
  6. Localizing Maternal and Fetal Message in Translation of Preeclampsia Candidate Ge
    Sandra A Founds; Fiscal Year: 2013
    ..Validated candidates could be relevant to the prediction and early detection of later life preeclampsia-associated cardiovascular disease in mothers and offspring who survive this pregnancy complication. ..
  7. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    ROBERT DESNICK; Fiscal Year: 1990
    ..The data from these studies, including the frequency of spontaneous abortions, will be collected for the multicenter analysis of the accuracy and safety of CVS vs. amniocentesis for prenatal diagnosis...
  8. FETAL ERYTHROID CELLS IN MATERNAL CIRCULATION
    STEPHEN GRANT; Fiscal Year: 1999
    ..The fetal derivation of sorted reticulocytes and nucleated cells will be verified using allele-specific PCR for glycophorin A mRNA and by PCR and/or FISH analysis for the presence of a Y chromosome in male conceptuses. ..
  9. IN SITU HYBRIDIZATION IN PRENATAL DIAGNOSIS
    Kenneth Castleman; Fiscal Year: 1993
    ..Interphase cell analysis by in situ hybridization could provide a diagnosis in under 24 hours, compared to 48-72 hours for conventional cytogenetics done on peripheral blood, and 10-14 days for amniocentesis or CVS...
  10. EVALULATION OF PRENATAL TESTS FOR CHROMOSOMAL DISORDERS
    A Washington; Fiscal Year: 1993
    ..The information generated and the analyses performed during this investigation will provide the necessary groundwork for the development and implementation of preference-based clinical guidelines for the use of prenatal diagnostics...
  11. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    Eugene Pergament; Fiscal Year: 1990
    The overall aim of this proposal is to compare the safety and the accuracy of Chorionic Villi Sampling (CVS) with amniocentesis by means of a multicenter, cooperative clinical study...
  12. The demographic trajectory of the sex ratio in human pregnancy
    STEVEN ORZACK; Fiscal Year: 2009
    ..We will bring together contributions from demography, evolutionary biology, medicine, and statistics in order to gain a comprehensive understanding of the changes in the sex ratio during human pregnancy. ..
  13. RANDOMIZED TRIAL OF 11-14 WEEK AMNIOCENTESIS AND TA CVS
    Elizabeth Thom; Fiscal Year: 1999
    ....
  14. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    Joe Simpson; Fiscal Year: 1990
    ..Provisions for recruiting controls are made, should attempts at randomization be unsuccessful. All data will be recorded on standard forms, 16 of which are provided in detail in this proposal...
  15. EVALUATING A DECISION TOOL FOR PRENATAL TESTING
    Miriam Kuppermann; Fiscal Year: 2002
    ..abstract_text> ..
  16. SCANNING CYTOMETRY TO SORT FETAL NRBCS IN MATERNAL BLOOD
    Jeffrey Price; Fiscal Year: 2002
    ..abstract_text> ..
  17. RECOVERY OF FETAL CELLS IN MATERNAL BLOOD
    DAVID SAMMONS; Fiscal Year: 1999
    ..The method is rapid. The recovered cells are viable and the numbers of fetal NRBC obtained are substantially greater than the numbers obtained after separation by other methods. PROPOSED COMMERCIAL APPLICATION: Not available. ..
  18. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    Lee Shulman; Fiscal Year: 2000
    ....
  19. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    DIANA BIANCHI; Fiscal Year: 2000
    ....
  20. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    Mark Evans; Fiscal Year: 2000
    ....
  21. PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD
    Laird Jackson; Fiscal Year: 2000
    ....
  22. MULTI-MEDIA TRAINING IN CYTOTECHNOLOGY
    Bruce Cameron; Fiscal Year: 1993
    ..This database will be expanded to include translocations, deletions, and fluorescent images in the expanded training station and training applications to be developed in Phase II...
  23. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    Laird Jackson; Fiscal Year: 1990
    ..The accuracy of prenatal diagnosis using CVS will be evaluated with respect to cytogenetic and biochemical tests, and improvements in the obstetrical procedure will be explored...
  24. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    MITCHELL GOLBUS; Fiscal Year: 1990
    ....
  25. FIRST TRIMESTER MATERNAL-FETAL IMMUNOLOGY
    JACKSON SMITH; Fiscal Year: 1991
    ..These studies will represent the initial attempt to characterize CVS derived CV at the cell surface and molecular levels and the in vitro allostimulatory properties of first trimester placental cells...
  26. Diagnostic proteomic profiles for aneuploidy
    Srinivasa Nagalla; Fiscal Year: 2006
    ..abstract_text> ..
  27. Expanded Prenatal Testing Options and Informed Choice
    Miriam Kuppermann; Fiscal Year: 2010
    ..In short, this study will generate a useful decision-assisting tool and provide information for use in designing cost-effective testing programs that allow for variation in preferences. ..
  28. Intermediate Outcomes of Hysterectomy and Alternatives
    Miriam Kuppermann; Fiscal Year: 2006
    ..abstract_text> ..
  29. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  30. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
    ..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
  31. Views and Approaches Toward Research Integrity Among IRBs
    Robert Klitzman; Fiscal Year: 2007
    ..We anticipate that the data from this study will serve as a significant foundation in assisting future research and the improvement of Rl through guidelines, education and other capacity building. [unreadable] [unreadable] [unreadable]..
  32. MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES
    ROBERT DESNICK; Fiscal Year: 2007
    ..It is anticipated that these trainees will continue the tradition of this program by becoming basic and/or clinical researchers in the field of human genetics and mental retardation. [unreadable] [unreadable]..
  33. PORPHYRIA AND HUMAN HEME BIOSYNTHESIS
    Robert J Desnick; Fiscal Year: 2010
    ..Viable CEP mice should permit studies of the disease pathophysiology and future therapeutic endeavors. ..
  34. Clinical Phenotype of Imprinted Genes of Chromosome 14
    Vernon Sutton; Fiscal Year: 2005
    ..This phenotype delineation will lay the foundation for understanding the effects and pathogenesis of imprinted genes on chromosome 14. ..
  35. Outcomes in congenital toxoplasmic retinochoroiditis
    Ruth Gilbert; Fiscal Year: 2005
    ..abstract_text> ..
  36. Views of Privacy of Genetic Information
    Robert Klitzman; Fiscal Year: 2005
    ..The findings of this study can enhance further policy, professional and public education, and future research in this area. ..