Utility of Whole Genome Sequencing in Fetuses With Abnormal Ultrasound Findings

Inclusion Criteria

• •1. Pregnant women aged ≥ 18 years.
• •2. Singleton pregnancy.
• •3. Gestational age between 11+0 and 32+0 weeks, with ultrasound or MRI indicating a definite structural malformation in the fetus (may be with or without soft marker abnormalities) requiring prenatal diagnosis (see Appendices 1 and 2). Fetal developmental abnormalities include those of the central nervous system, cardiovascular system, craniofacial/neck region, chest/mediastinum, abdomen/digestive tract, urinary system, skeletal system/limbs, and systemic abnormalities such as fetal hydrops, abnormally thickened placenta with hydrops, and severe growth restriction. Criteria for ultrasound soft markers and structural malformations are provided in the appendices.
• •4. Planned to undergo at least one invasive or postnatal procedure for genetic diagnosis, and consent to the use of residual diagnostic samples for research testing.
• •5. Signed unified informed consent form, agreement to follow-up, and consent for storage and submission of samples and data according to the protocol.