EP18.28: Association of chromosomal abnormalities and cardiac defects with increased nuchal translucency and/or ductus venosus PI>1.3 in South Indian population
Year: 2024
Type: conference-abstract
Abstract: To evaluate the incidence of chromosomal, genetic and cardiac abnormalities in fetuses with increased Nuchal Translucency (iNT) and abnormal flow in the Ductus Venosus (DV) in singleton pregnancies undergoing ultrasound examination at 11-13 weeks. This is a retrospective study of prospectively collected data from tertiary fetal care centre in South India from 2015-2023.6141 singleton pregnancies that underwent first trimester scan as per the FMF and ISUOG guidelines and had known outcomes were assessed during this study period. The DV Doppler was assessed in 5858 fetuses and these were included in the study. All scans were performed by FMF certified operators. The data was stored in Astraia software. Outcome of the pregnancies was assessed by prenatal diagnostic testing if performed, telephonic interview with parents confirming absence of any neurodevelopmental delay and examination of the hospital delivery records. The study population was divided into Group 1 with iNT and DV-PI > 1.3, group 2 had only DVPI>1.3 and group 3 had neither iNT nor abnormal DVPI. 558/ 5926(9.5%) fetuses had iNT and 190(3.2%) had DVPI > 1.3. 100 fetuses had iNT and DVPI > 1.3. 10/28 (35.7%) had an abnormal karyotype and 48/90 (53.3%) had cardiac defects. 90 fetuses had isolated DVPI >1.3, of which 7/ 60 (11.7%) had an abnormal karyotype and 15/83 (18.1%) had cardiac defects. In the 5210 fetuses that had neither iNT nor DVPI > 1.3, 28/ 4725 (0.6%) had a chromosomal anomaly, 49/ 4725 (1.03%) had a genetic anomaly and 66/ 5133 (1.3%) had a cardiac defect. The abnormal karyotypes included 6 T21, 2 T18, 1 T13 and 1 45XO in group 1. In group 2, there were 4 T21, 1 Triploidy and 2 CNVs. The presence of iNT along with increased DVPI increases the risk for chromosomal and cardiac anomalies significantly. It would be prudent to add meticulous assessment of Ductus Venosus Doppler during the first trimester scan along with assessment of NT to improve the detection rate of chromosomal and major cardiac anomalies.
DOI: 10.1002/uog.28764
Authors: S. Mundhe, V. Payal, G. S, P. Radhakrishnan
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4402361213