Prenatal karyotyping in malformed fetuses.

Area of Science:

• Prenatal diagnosis
• Medical genetics
• Fetal medicine

Background:

• Prenatal diagnosis of fetal malformations is crucial for genetic counseling.
• Ultrasound is a primary tool for detecting structural anomalies in fetuses.
• The association between specific fetal malformations and chromosomal aberrations requires further investigation.

Purpose of the Study:

• To report experience with prenatal karyotyping in fetuses with sonographic evidence of malformation.
• To determine the prevalence of chromosomal aberrations in fetuses with isolated versus multiple malformations.
• To highlight the importance of detailed fetal anatomical assessment for predicting chromosomal anomalies.

Main Methods:

• Retrospective analysis of 237 prenatal cases.
• Karyotyping of fetal samples.
• Detailed ultrasound evaluation of fetal anatomy.
• Correlation of cytogenetic findings with morphological data.

Main Results:

• Abnormal karyotypes were identified in 40 out of 237 fetuses (16.8%).
• Fetuses with multiple malformations had a higher rate of chromosomal aberrations (35.6%) compared to those with isolated anomalies (10.6%).
• Specific malformations like omphalocele, duodenal atresia, hydrocephalus, and cystic hygroma were detailed.

Conclusions:

• The presence of multiple fetal malformations is a strong indicator for chromosomal anomaly.
• Comprehensive ultrasound assessment of fetal anatomy is essential in pregnancies with suspected malformations.
• Prenatal karyotyping is valuable in identifying chromosomal aberrations associated with fetal structural defects.