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Sonographic recognition of major malformations and aberrant fetal growth in trisomic fetuses
1Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, Missouri.
Insights
Prenatal ultrasound effectively detects major malformations and growth issues in fetuses with chromosomal abnormalities, aiding in early diagnosis. A systematic fetal anatomic survey is a powerful screening tool for detecting trisomies.
Area of Science:
- Medical imaging
- Prenatal diagnostics
- Genetics
Background:
- Chromosomal abnormalities in newborns often lead to structural malformations and growth retardation.
- Early detection of these conditions is crucial for appropriate management and counseling.
Purpose of the Study:
- To evaluate the effectiveness of ultrasound in identifying fetal growth patterns and major malformations associated with chromosomal abnormalities.
- To determine the sensitivity of prenatal sonography in detecting these anomalies.
Main Methods:
- The study included 74 fetuses with trisomies (13, 18, and 21).
- Prenatal ultrasound data was analyzed for fetal growth patterns and major malformations.
- Postnatal examinations were used to confirm the presence of malformations.
Main Results:
- 63% of trisomic fetuses exhibited at least one major malformation postnatally.
- Prenatal sonography identified major anomalies in 68% of malformed trisomic fetuses and 43% of the total trisomic population.
- Growth retardation was observed in 43% of trisomy 13 and 59% of trisomy 18 fetuses, often starting in the midtrimester.
Conclusions:
- A systematic fetal anatomic survey via ultrasound is a valuable screening tool for prenatal detection of chromosome abnormalities.
- Ultrasound can identify key indicators like growth retardation and major malformations in trisomic fetuses.
- These findings support the integration of detailed fetal anomaly screening into routine prenatal care for at-risk pregnancies.
Abstract:
Structural malformations and growth retardation are commonly observed in chromosomally abnormal newborns. This study assesses the sensitivity of ultrasound for detecting aberrant fetal growth patterns and chromosome-related major malformations. The study population consisted of 74 trisomic fetuses (trisomy 13, 9; trisomy 18, 22; trisomy 21, 43). Overall, 63% (38 of 60) of trisomic fetuses had at least one major malformation on postnatal examination. One or more major anomalies were identified by prenatal sonography in 68% (26 of 38) of these malformed fetuses and 43% (26 of 60) of the entire trisomic population. Midtrimester onset growth retardation was evident in 43% of fetuses with trisomy 13 and 59% of fetuses with trisomy 18. These findings suggest that a systematic fetal anatomic survey can be a powerful screening tool for the prenatal detection of chromosome abnormalities.