Objective To explore the application value of karyotype analysis and chromosome mi-croarray analysis(CMA)technology in fetal prenatal diagnosis of increased nuchal translucency(NT),and to evaluate the role of increased NT in fetal chromosome abnormality screening. Methods A total of 137 fetuses with thickened NT(NT≥ 2.5 mm)were screened at Guangzhou Huadu District Maternal and Child Health Hos-pital between January 2018 and December 2020 at 11 to 13+6 weeks of gestation,and transplacental chorionic puncture was performed to perform"karyotyping."by placental villus aspiration and were divided into 2.5～2.9 mm,3.0～3.9 mm,4.0～4.9 mm,NT≥5.0 mm group,isolated NT thickening group and non-isolated NT thicken-ing group,respectively. The karyotyping and CMA results were analyzed. Results The detection rate of chro-mosome karyotype analysis was 10.95％(15/137),while CMA was 16.79％(23/137). The abnormal detection rate of CMA combined with karyotype analysis was 18.25％(25/137). Detection rates for NT measurements of 2.5～2.9 mm,3.0～3.9 mm and 4.0～4.9 mm,NT≥ 5.0 mm were 7.89％(3/38),8.20％(5/61),33.33％(7/21), and 52.94％(9/17),respectively(c2=22.54,P<0.05). The detection rates of pure increased NT and increased NT combined with other abnormalities were 12.24％(12/98)and 26.67％(12/45),respectively,with a statisti-cally significant difference(c2=4.59,P<0.05). Conclusion Combining chromosomal karyotyping with CMA can enhance the detection rate of fetal abnormalities associated with NT thickening. The incidence of chromosom-al abnormalities rises significantly with higher NT values and other ultrasound abnormalities.
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