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Screening for fetal and genetic abnormalities.

J L Simpson

    Bailliere'S Clinical Obstetrics and Gynaecology
    |September 1, 1991
    PubMed
    Summary
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    Prenatal genetic screening is crucial in obstetrics, requiring careful consideration of clinical utility, cost, and reliability. Targeted screening for specific ethnic groups and conditions like neural tube defects is recommended, while general cystic fibrosis screening is not advised.

    Area of Science:

    • Medical Genetics
    • Prenatal Diagnosis
    • Obstetrics

    Background:

    • Genetic screening is a vital component of modern obstetrics.
    • Several prerequisites, including clinical management impact, cost-effectiveness, assay reliability, and problem management capacity, must be met before implementing screening programs.
    • A systematic approach is necessary to assess family history for increased risk of congenital anomalies.

    Purpose of the Study:

    • To outline the essential prerequisites for initiating genetic screening in obstetrics.
    • To recommend specific genetic screening protocols based on maternal age, family history, and ethnic background.
    • To discuss the implications of genetic screening for Mendelian traits and the persistence of mutant alleles in the population.

    Main Methods:

    Keywords:
    Genetics and ReproductionHealth Care and Public Health

    Related Experiment Videos

  • Review of established guidelines and evidence for prenatal genetic screening.
  • Identification of risk factors such as maternal age and family history.
  • Description of screening assays for specific genetic disorders (e.g., cytogenetic testing, alpha-fetoprotein screening, heterozygote screening).

    • Main Results:

    • Maternal age over 35 warrants offering prenatal cytogenetic testing.
    • Maternal serum alpha-fetoprotein screening is recommended for all pregnant women to detect neural tube defects.
    • Targeted heterozygote screening is appropriate for specific ethnic groups at risk for conditions like sickle-cell anaemia, beta-thalassaemia, alpha-thalassaemia, and Tay-Sachs disease.
    • General population screening for cystic fibrosis (delta F508 mutations) is not currently recommended, but should be offered to relatives.

    Conclusions:

    • Genetic screening in obstetrics requires careful planning and adherence to prerequisites.
    • Tailored screening strategies based on individual risk factors and ethnic predispositions are essential.
    • The majority of the genetic load for Mendelian traits resides in asymptomatic heterozygotes, necessitating ongoing population surveillance.