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Abnormal pregnancy sonogram: selective indication for fetal karyotype.

R A Williamson, C P Weiner, S Patil

Obstetrics and Gynecology

|January 1, 1987

Summary

Antenatal chromosome evaluation can resolve diagnostic uncertainty for fetuses with ultrasound abnormalities. Nearly one-third of abnormal ultrasounds revealed chromosome issues, highlighting the need for genetic testing in prenatal diagnosis.

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Area of Science:

Prenatal diagnosis
Medical genetics
Fetal medicine

Background:

Ultrasound abnormalities in fetuses often lead to diagnostic uncertainty for parents and physicians.
Definitive diagnosis is crucial for informed decision-making during pregnancy.

Purpose of the Study:

To evaluate the utility of antenatal chromosome analysis in fetuses with sonographically detected abnormalities.
To determine the prevalence of karyotypic abnormalities in this high-risk population.

Main Methods:

Karyotypic analysis was performed on specimens from 41 fetuses with abnormal ultrasound findings.
Various specimen types were utilized for genetic testing.

Main Results:

Chromosome abnormalities were identified in nearly one-third (13 of 41) of the fetuses studied.

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The study observed a poor prognosis, with only seven survivors, in fetuses with significant antenatal ultrasound defects.

Conclusions:

Antenatal chromosome evaluation is valuable for resolving diagnostic uncertainty in fetuses with ultrasound abnormalities.
Fetal karyotype knowledge impacts epidemiologic data, cost-benefit analyses, genetic counseling, and pregnancy management strategies.