Advertisement
Research Article| Volume 12, ISSUE 3, P493-502, September 1992

Prenatal Genetics in Laboratory Medicine: A Cytogeneticist’s Perspective

  • Jayavanthi Satish
    Correspondence
    Address reprint requests to: Jayavanthi Satish, PhD, Molecular Pathology and Genetics, Sinai Hospital of Baltimore, Belvedere at Greenspring Avenues, Baltimore, MD 21215
    Affiliations
    From the Departments of Molecular Pathology and Genetics, Sinai Hospital of Baltimore, Baltimore, Maryland
    Search for articles by this author
DOI:https://doi.org/10.1016/S0272-2712(18)30502-X
Prenatal Genetics in Laboratory Medicine: A Cytogeneticist’s Perspective
Previous ArticleAlpha-Fetoprotein and Screening Markers of Congenital Disease
Next ArticleWhat Can Be Learned From Cordocentesis?
      This paper is only available as a PDF. To read, Please Download here.
      A concise review of current trends in prenatal genetic diagnosis for the nongeneticist is presented in this article. Its impact on the practice of clinical laboratory medicine today is discussed, and an attempt is made to capture the sense of the growing body of knowledge and excitement in prenatal genetic diagnostic technology, and the fountain of possibilities it has created for prenatal care.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.

      Content published before 2002 is available via pay-per-view purchase only.

      Subscribe:

      Subscribe to Clinics in Laboratory Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Register: Create an account
      Institutional Access: Sign in to ScienceDirect

      References

        • Allanson J.E.
        • Bixenman H.
        A new generation of chromosomal syndromes.
        Karyogram. 1985; 11: 71-76
        • Brumfield C.G.
        • Davis R.O.
        • Cosper P.
        • et al.
        Chromosomal abnormalities associated with sonographically detected fetal anomalies.
        Program and Abstracts of the 9th Annual Meeting of the Society of Perinatal Obstetricians. Louisiana, New Orleans1989: 176
        • Canadian Collaborative CVS-Amniocentesis Clinical Trial Group
        Multicenter randomised clinical trial of chorion villus sampling and amniocentesis.
        Lancet. 1989; i
        • Eydous P.
        • Choiset A.
        • LePorrier N.
        • et al.
        Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment.
        Prenat Diagn. 1989; 9: 255-268
        • Ferguson-Smith M.A.
        Early prenatal diagnosis [editorial].
        Prenatal Diagn. 1991; 11: 489-491
        • Ferguson-Smith M.A.
        • Yates J.R.W.
        Maternal age-specific rates for chromosome abnormalities and factors influencing them: Report of a collaborative European study on 52,965 amniocentesis.
        Prenatal Diagn. 1984; 4: 5-44
      7. Filkens K. Russo J.F. Human Prenatal Diagnosis. ed 2. Marcel Dekker, New York1990
        • Gardner R.J.M.
        • Sutherland G.R.
        Chromosomal abnormalities and genetic counseling.
        Oxford Monographs on Medical Genetics No. 17. Oxford University Press, Oxford, England1989
        • Hall J.
        Nontraditional inheritance.
        Growth Genet Horm. 1990; 6
        • Hook E.B.
        Paternal age and genetic outcome: Implications for genetic counseling.
        in: Porter I.H. Hatcher N.H. Willey A.M. Perinatal Genetics. Academic Press, New York1986
        • Hook E.B.
        • Cross P.K.
        Extrastructurally abnormal chromosomes (ESAC) detected at amniocentesis: Frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age.
        Am J Hum Genet. 1987; 40: 83-101
        • Hook E.B.
        • Cross P.K.
        Rates of mutant and inherited structural cytogenetic abnormalities detected at amniocentesis: Results on about 63,000 fetuses.
        Ann Hum Genet. 1987; 51: 27-55
        • Hsu Y.F.L.
        Prenatal diagnosis of chromosomal abnormalities.
        in: Milunsky A. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. ed 2. Plenum Press, New York1988: 115-172
        • Jaroff L.
        The gene hunt. 1989; (Time: 62-67, March 20)
        • Laxova R.
        Prenatal diagnosis of genetic defects.
        Postgrad Med. 1979; 65 (3): 247-252
      16. Milunsky A. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. ed 2. Plenum Press, New York1988: 12-20 (1-3)
        • Milunsky A.
        Choices Not Chances. Little, Brown & Co, New York1989
        • Magenis E.R.
        • Brown M.G.
        • Lacy D.A.
        • et al.
        Am J Med Genet. 1987; 28: 829-838
        • NICHD National Registry for Amniocentesis Study Group
        Mid-trimester amniocentesis for prenatal diagnosis: Safety and accuracy.
        JAMA. 1976; 236: 1471
        • Simpson J.L.
        • Carson A.C.
        • et al.
        Future horizons in prenatal genetic diagnosis: Preimplantation diagnosis and noninvasive screening.
        in: Filkins K. Russo J.F. Human Prenatal Diagnosis. ed 2. Marcel Dekker, New York1990
        • Schulman J.D.
        Assisted reproductive technologies and preimplantation genetics.
        Growth Genet Horm. 1991; 2: 6-9
        • Vejerslev L.
        • Mikkelsen M.
        The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986-1987.
        Prenat Diagn. 1989; 9: 575-588
        • Warburton D.
        De novo structural rearrangements: Implications for prenatal diagnosis.
        in: Willey A.M. Carter T.P. Kelly S. Clinical Genetics: Problems in Diagnosis and Counseling. Academic Press, New York1982: 63-75
        • Weiss L.
        • Van Dyke D.L.
        • Roberson J.
        The risk of mental retardation, multiple congenital anomalies (MR/MCA) related to de novo chromosome rearrangements: A first-order approximation.
        Pediatr Res. 1983; 17: 221A

      Article info

      Identification

      DOI: https://doi.org/10.1016/S0272-2712(18)30502-X

      Copyright

      © 1992 Elsevier Inc. Published by Elsevier Inc. All rights reserved.

      ScienceDirect

      Access this article on ScienceDirect

      The content on this site is intended for healthcare professionals.


      We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site.
      Copyright © 2023 Elsevier Inc. except certain content provided by third parties.


      RELX