Investigating the Impact of Genetic Screening on the Management of Fetal Anomalies: A Multicentre Study

Authors

  • Aparajita Gulati
  • Rehana Najam

Keywords:

Genetic screening, Fetal Anomalies, Non-Invasive Prenatal Testing, Chorionic Villus Sampling, Chromosomal Microarray Analysis, Whole-Exome Sequencing

Abstract

The main objective of this study was to evaluate the effects of different genetic screening strategies on the management of fetal abnormalities; the study was a multicenter, observational cohort study. The study was carried out in five tertiary care hospitals dedicated to maternal-fetal medicine and prenatal ultrasound over two years from January 2022 to December 2023. The study sample consisted of 600 multiparous pregnant women, 18 years and above, who attended routine ANC in the selected centers. The genetic screening methods that the participants went through included NIPT, Amniocentesis, CVS, CMA, and WES. Demographic characteristics, medical history, and pregnancy outcomes were obtained and compared. The mean age of participants was 28. 5 years (SD = 5. 6). The detection rates for fetal anomalies were as follows: In NIPT, aneuploidies were detected in 10 participants; Trisomy 21 in 15 cases, Trisomy 18 in 3 cases, Trisomy 13 in 2 cases; Amniocentesis showed chromosomal abnormalities in 13. 3% of participants; CVS, in 10% of participants; CMA, in 15% of participants; and WES, in 16% of participants. Using the chi-square tests to compare NIPT with Amniocentesis revealed a p-value of 0. 031 which is less than 0. 05 while the comparison of CVS and CMA did not yield a p-value of less than 0. 05, it was 0. 063. The T-tests showed that the participants with detected anomalies were older than the participants without the anomalies (t = 2. 12, p = 0. 035). The odds ratio for anomaly detection was higher with NIPT (OR = 1. 45, 95% CI [1. 10, 1. 92], p = 0. 004) and Amniocentesis (OR = 1. 38, 95% CI [1. 05, 1. 81], p = 0. 022). The results of Kaplan-Meier survival analysis revealed that the pregnancy outcomes were significantly different according to the screening methods (Log-rank test, p = 0. 011; HR = 1. 008).This paper shows that various methods of genetic screening affect the identification and treatment of fetal abnormalities in a big way. These results stress the need for the use of proper screening methods depending on the clinical indications to enhance pregnancy outcomes and prenatal care

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Published

2025-04-23

How to Cite

1.
Gulati A, Najam R. Investigating the Impact of Genetic Screening on the Management of Fetal Anomalies: A Multicentre Study. J Neonatal Surg [Internet]. 2025Apr.23 [cited 2025Oct.28];14(14S):842-54. Available from: https://www.jneonatalsurg.com/index.php/jns/article/view/4372

Issue

Vol. 14 No. 14S (2025): Journal of Neonatal Surgery

Section

Original Article

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