Application of chromosome microarray in prenatal diagnosis of thickening of nuchal translucency
Objective This study aims to investigate the value of chromosomal microarray analysis(CMA)in fetuses with increased nuchal translucency.Methods Samples of prenatal diagnosis conducted at the prenatal diagnosis center of Urumqi Maternal and Child Health Hospital from June 2018 to June 2020 were selected.A total of 62 singleton pregnancy samples with NT thickening(≥3.0 mm)and with/without structural abnormalities were included.The pregnancies were divided into 4 groups based on the NT values:3.0～3.4 mm(33 cases),3.5～4.4 mm(21 cases),4.5～5.4 mm(3 cases),and≥5.5 mm(5 cases).Additionally,pregnan-cies were categorized into two groups based on whether there was increased NT with other abnormalities or not:simple increased NT(53 cases),and increased NT with other structural abnormalities(9 cases).All possible chromosomal anomalies were analyzed using karyotype analysis and CMA.Results The detection rate of chro-mosome karyotype analysis was 20.9%(13/62),which included 8 cases of trisomy 21 syndrome,2 cases of tri-somy 18 syndrome,2 cases of Turner syndrome and 1 case of derived chromosome.The detection rate of CMA was 29.0%(18/62),including 12 cases of aneuploidies,1 case of pathogenic CNV and 5 cases of VOUS.Fetal chromosomal aneuploidy abnormalities increased significantly with the increase in NT thickness,CNV ac-counted for 27.8%(13/53)of total abnormalities in fetuses with simple NT thickening,while in fetuses with NT thickening and other structural abnormalities,CNV accounted for 55.6%(5/9)of total abnormalities.Conclu-sion CMA detection improves the detection rate of chromosome abnormalities.In fetuses with NT thickening but negative CMA detection,the possibility of adverse outcomes cannot be ruled out.
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