Abstract：Objective To explore the applicability of chromosomal analysis of fetuses with thick nuchal fold.Methods The clinical data on sixty-seven pregnancies diagnosed as thick nuchal fold during prenatal diagnosis between January 2013 to December 2019 in Beijing Obstetrics and Gynecology Hospital was retrospectively analyzed,including amniotic fluid (between 18 to 23+6 weeks of gestation), umbilical blood sampling(after 24 weeks of gestation)or fetal tissue of stillbirth. The chromosomal karyotype of fetal samples and copy number variations(CNVs ) of genes were analyzed.Results 13.4%(9/67) of chromosome abnormities were diagnosed with thick nuchal fold, including four with trisomy 21, two with trisomy 18, one with X chromosome aneuploidy and two with pathogenic CNVs respectively. There was one case of chromosomal abnormalities in the thirty-three cases of fetuses with isolated thick nuchal fold. There were eight cases of chromosomal abnormalities in the thirty-four cases of fetuses with thick nuchal fold(8/34, 23.5%).Conclusions The incidence of chromosomal abnormalities in fetuses with thick nuchal fold is high and prenatal diagnosis is recommended for the patients. For fetuses with thick nuchal fold,prenatal diagnosis of CNVs is recommended,especially those with comprehensive NF thickening.
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2020, Vol. 31 
