Objective <p>To describe the prenatal diagnosis, pregnancy outcomes, and postnatal neurodevelopment of fetuses with central nervous system (CNS) anomalies in a prospective cohort of pregnant women.</p> Materials and Methods <p>We conducted a prospective descriptive study of 123 pregnant women diagnosed with fetal CNS anomalies at a tertiary referral center between June 2023 and May 2024. Maternal demographics, gestational age at diagnosis, associated anomalies, genetic findings, pregnancy outcomes, and neonatal neurodevelopment were recorded. Invasive prenatal testing and multidisciplinary counseling were offered as clinically indicated.</p> Results <p>The mean maternal age was 25.9&#xa0;years, and the mean gestational age at diagnosis was 24.8&#xa0;weeks. The most common anomaly was ventriculomegaly (61.8%), followed by neural tube defects (13.8%). Extra-CNS anomalies were present in 22.8% of cases, most commonly cardiovascular anomalies (26.1%). Genetic abnormalities were detected in 13.7% of fetuses undergoing invasive testing. Among all cases, 70.7% resulted in live births, 24.4% underwent medical termination of pregnancy, and 3.3% had intrauterine demise. Of live-born infants, 6.8% were preterm and 15.9% delivered via cesarean section. Developmental delays were observed in 5.6% of surviving infants.</p> Conclusion <p>Ventriculomegaly was the most frequently detected CNS anomaly. Early prenatal diagnosis and identification of associated anomalies aid in prognosis and pregnancy management. A multidisciplinary approach is critical for counseling and guiding families regarding continuation or termination of pregnancy. Long-term neurodevelopmental follow-up enables timely intervention for affected infants.</p>

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Evaluation of Feto-Maternal Outcomes in Women with Prenatally Diagnosed Fetal Central Nervous System Anomalies

  • Shreya Singh Kushwaha,
  • Upma Saxena,
  • Abhishek Lachyan,
  • Sumitra Bachani,
  • Poornima Sharma,
  • Suchandana Dasgupta

摘要

Objective

To describe the prenatal diagnosis, pregnancy outcomes, and postnatal neurodevelopment of fetuses with central nervous system (CNS) anomalies in a prospective cohort of pregnant women.

Materials and Methods

We conducted a prospective descriptive study of 123 pregnant women diagnosed with fetal CNS anomalies at a tertiary referral center between June 2023 and May 2024. Maternal demographics, gestational age at diagnosis, associated anomalies, genetic findings, pregnancy outcomes, and neonatal neurodevelopment were recorded. Invasive prenatal testing and multidisciplinary counseling were offered as clinically indicated.

Results

The mean maternal age was 25.9 years, and the mean gestational age at diagnosis was 24.8 weeks. The most common anomaly was ventriculomegaly (61.8%), followed by neural tube defects (13.8%). Extra-CNS anomalies were present in 22.8% of cases, most commonly cardiovascular anomalies (26.1%). Genetic abnormalities were detected in 13.7% of fetuses undergoing invasive testing. Among all cases, 70.7% resulted in live births, 24.4% underwent medical termination of pregnancy, and 3.3% had intrauterine demise. Of live-born infants, 6.8% were preterm and 15.9% delivered via cesarean section. Developmental delays were observed in 5.6% of surviving infants.

Conclusion

Ventriculomegaly was the most frequently detected CNS anomaly. Early prenatal diagnosis and identification of associated anomalies aid in prognosis and pregnancy management. A multidisciplinary approach is critical for counseling and guiding families regarding continuation or termination of pregnancy. Long-term neurodevelopmental follow-up enables timely intervention for affected infants.