Clinical Study on Prenatal Diagnosis of Fetal Abnormalities of Unknown Cause Using Whole-Genome Sequencing: A Multicenter Study

What this Trial Is About

Researchers are evaluating whether whole-genome sequencing (WGS) can identify the genetic causes of structural abnormalities in fetuses when standard genetic tests like karyotyping, chromosomal microarray, or whole-exome sequencing have not found answers. This observational study aims to see how often WGS detects these causes, whether it finds more than standard tests, and if combining WGS with other molecular analyses can uncover new disease genes or pathways. The study is led by the Women's Hospital School Of Medicine Zhejiang University and focuses on prenatal diagnosis and fetal diseases. Pregnant women whose fetuses show structural abnormalities on ultrasound or MRI, and who have negative results from routine genetic testing, are invited to participate. Participants will undergo invasive procedures such as amniocentesis or provide postnatal samples as part of their regular care. Leftover samples will be used for WGS and additional molecular studies. The study includes follow-up until after delivery to collect information on pregnancy outcomes and neonatal health. Throughout the study, researchers will compare WGS results with standard genetic testing to determine diagnostic yield and increment. They will also study candidate disease genes and molecular pathways. Participants will be monitored through pregnancy and delivery, with data and samples collected for research. The study plans to establish a multicenter database and biobank, standardize data sharing, and evaluate the impact of WGS on genetic counseling and pregnancy management. The total study duration is about two years from first participant enrollment to completion.

Utility of Whole Genome Sequencing in Fetuses With Abnormal Ultrasound Findings