Prenatal Anomalies Screening Protocol

This study was approved by the medical ethics committee of Jiangxi Maternal and Child Health Hospital (Approval number: EC-KT-202210). All the participants provided written informed consent. All participants were recruited from the prenatal diagnosis center of Jiangxi Maternal and Child Health Hospital from June 2021 to March 2022. Inclusion criterion: Pregnant women who had an indication for amniocentesis, including structural anomalies and a positive result from maternal serum screening or non-invasive prenatal testing. Exclusion criteria: (1) abnormal karyotype or chromosomal microarray analysis results; gestational age beyond 140-154 days; (3) multiple pregnancies; (4) other risk factors for prenatal diagnoses. Finally, 294 participants were included and separated into the discovery (n= 137, from June 2021 to October 2021) and validation (n= 157, from November 2021 to March 2022) cohorts. Fetuses with structural anomalies were categorized into three phenotypic groups based on abnormalities in different organ systems detected by ultrasound, including cardiac, central nervous systems, and renal anomalies. The control group in this study included women with singleton pregnancies whose fetuses had no structural malformations, but who had indications for amniocentesis, including a positive result from maternal serum screening or non-invasive prenatal testing.