A 10-year retrospective study on prenatal cytogenetic analyses

Abstract

Objective: To analyze the indications and results of prenatal cytogenetic screening in patients from a specialized center in Xiamen City, China, to provide a reference database for prenatal diagnosis. Materials and Methods: This retrospective, observational study included 7,400 pregnant women who underwent chorionic villous sampling (CVS), amniocentesis or cordocentesis at the Women and Children's Hospital, School of Medicine, Xiamen University, China, over a 10-year period (2008-2018). Clinical data and the results of the cytogenetic analysis were assessed. Results: Fetal chromosomal aberrations were observed in 335 of 7, 400 (4.5%) cases, with trisomy 21 the most common aberration (87/335, 26%). A high risk on maternal serum screening was the indication for cytogenetic analysis in 36 of the 87 fetuses with trisomy 21 (41.4%). Abnormal fetal ultrasonographic findings were the clinical indication for cytogenetic testing in more than half of fetuses with abnormal karyotypes (181/335, 54%). Conclusions: Prenatal cytogenetic analysis is useful for the prenatal diagnosis of birth defects in Xiamen City, and may prevent termination of potentially healthy fetuses.

Keywords

• aneuploidy
• cytogenetics
• karyotype analysis
• prenatal diagnosis