ObjectiveTo explore the application value of chromosome karyotype combined with chromosome chip technology in the prenatal diagnosis of fetal structural abnormalities indicated by ultrasound. MethodsA total of 120 pregnant women with fetal structural abnormalities indicated by prenatal ultrasound were selected. Amniotic fluid (20 mL) was extracted guided by ultrasound, and amniotic fluid cell culture was conducted and karyotype was analyzed; meanwhile, the single nucleotide polymorphism array (SNParray) was detected. ResultsThe amniotic fluid cells of 120 pregnant women were cultured successfully, with a 100.00% success rate. Eleven cases indicated as chromosome karyotype abnormalities, with a 9.17% abnormal rate; among them, 9 cases interpreted chromosome number abnormalities, and 2 cases were abnormal in chromosome structure. The abnormal rate of chromosomal karyotype was the highest in patients with multiple malformations (15.00%). Among 120 pregnant women, the abnormal chromosome chips revealed in 18 cases, with a 15.00% abnormal rate; 10 cases with abnormal chromosome karyotype interpreted abnormal chromosome chip, and 1 case with abnormal chromosome structure indicated normal chromosome chip. Among 109 cases with normal karyotype, 8 cases interpreted abnormal chromosome chip, among which 3 cases were known as pathogenic syndrome, and 5 cases as copy number variations (CNVs) were unknown. ConclusionThe combined application of chromosome karyotype and chromosome chip technology in the prenatal diagnosis of fetal structural abnormalities indicated by ultrasound can improve the detection rate of prenatal chromosomal abnormalities, and preferably find out the genetic etiology, which has important clinical application value.

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