AUTHOR=Zhang Huijing , Wang Shuang , Feng Chunli , Zhao Hongyan , Zhang Weiwei , Sun Yu , Yang Huixia 

TITLE=Chromosomal abnormalities and structural defects in fetuses with increased nuchal translucency at a Chinese tertiary medical center

JOURNAL=Frontiers in Medicine

VOLUME=Volume 10 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1158554

DOI=10.3389/fmed.2023.1158554

ISSN=2296-858X

ABSTRACT=Objectives To explore the pregnancy outcomes of foetuses with increased NT thickness
Methods This was a retrospective study of fetuses with increased NT (≥95th centile) at 11-14 weeks of gestation between January 2020 and November 2020.
Results Among 264 foetuses with increased NT, the median of CRL and NT was 61.2 mm and 2.41mm. Among them, 132 pregnancy women chose invasive prenatal diagnosis (43 cases of chorionic villus samplingpuncture, 89 cases of amniocentesis). Eventually, 16 cases of chromosomal abnormalities were discovered, including 6 cases (6.4%) of trisomy 21, 4 cases (3%) of trisomy 18, 1 case (0.8%) of 45, XO, 1 case (0.8%) of 47, XXY and 4 cases (3.03%) of CNV abnormalities. The major structural defects included hydrops (6.4%), cardiac defects (3%) and urinary anomalies (2.7%). The incidences of chromosomal abnormalities and structural defects in the NT<2.5mm group were 1.3% and 6%, while the incidences were 8.8% and 28.9% in the NT≥2.5 group. 
Conclusion Increased NT was associated with high risk of chromosomal abnormalities and structural anomalies. Chromosomal abnormalities and structural defects could be detected when NT thickness was between 95th centile and 2.5mm.