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Abnormal second-trimester ultrasounds: an indication for karyotype
M P Dombrowski1, S M Berry, N B Isada
1Department of Obstetrics and Gynecology, Hutzel Hospital/Wayne State University, Detroit, MI 48201.
Fetal Diagnosis and Therapy
|January 1, 1993
Summary
Amniotic fluid volume abnormalities and fetal structural anomalies in the second trimester increase aneuploidy risk. Even normal-appearing fetuses with abnormal fluid levels face higher odds of chromosomal abnormalities.
Area of Science:
- Prenatal diagnostics
- Fetal medicine
- Genetics
Background:
- Limited data exists on aneuploidy risks in fetuses with normal appearance but abnormal amniotic fluid volume (AFV).
- Second-trimester AFV assessment is crucial for evaluating fetal well-being and potential genetic risks.
Purpose of the Study:
- To determine the relative risks of aneuploidy associated with abnormal second-trimester AFVs.
- To assess aneuploidy risks in fetuses with structural anomalies compared to those with AFV abnormalities.
Main Methods:
- Retrospective cohort study of 2,823 singleton, viable fetuses.
- Analysis of amniotic fluid volume (AFV) abnormalities: polyhydramnios, increased AFV, oligohydramnios, and decreased AFV.
- Comparison of aneuploidy incidence between fetuses with and without structural anomalies and AFV abnormalities.
Main Results:
- Increased AFV (OR=12.9), polyhydramnios (OR=4.6), and decreased AFV (OR=3.8) were associated with increased aneuploidy risk.
- Fetal structural anomalies showed a markedly increased incidence of aneuploidy (OR=13.4).
- No aneuploidies were detected in normal fetuses with oligohydramnios.
Conclusions:
- Isolated amniotic fluid volume abnormalities are linked to an elevated risk of fetal aneuploidy.
- Fetal structural anomalies significantly increase the likelihood of aneuploidy.
- Both AFV abnormalities and structural anomalies warrant careful consideration for aneuploidy screening.