Prenatal Genetic Diagnosis by Genomic Sequencing

Eligibility Details: Inclusion Criteria: Prenatal sequencing group 1. Fetus identified by ultrasound and/or MRI with at least one of the following: 1. One or more major structural anomalies (Appendix A) 2. A nuchal translucency measurement of ≥ 3.5 mm 3. A fetus less than 24 weeks 0 days gestation with normal anatomy and sonographically estimated fetal weight <5th %ile without maternal hypertension, type I diabetes, or other maternal disorders known to alter fetal growth. 2. Negative prenatal CMA (or those with CMA findings not related to the ultrasound finding) 3. Singleton gestation 4. Gestational age less than 36 weeks, 0 days to allow for availability of sequencing results before delivery Unsequenced Group 1. Fetus identified by ultrasound and/or MRI with at least one of the following: 1. One or more major structural anomalies (Appendix A) 2. A nuchal translucency measurement of ≥ 3.5 mm 3. A fetus less than 24 weeks 0 days gestation with normal anatomy and sonographically estimated fetal weight <5th %ile without maternal hypertension, type I diabetes, or other maternal disorders known to alter fetal growth 2. Negative prenatal or postnatal CMA (or those with CMA findings not related to the ultrasound finding) 3. Declined prenatal sequencing 4. Singleton gestation Exclusion Criteria: Prenatal Sequencing Group 1. Prenatal sequencing or planned prenatal sequencing performed outside of the study, including gene panels 2. Maternal or paternal age less than 18 years old 3. Proven infectious or teratogenic cause of fetal anomaly 4. Planned termination of the pregnancy 5. Unavailable blood or saliva samples from both biologic parents prior to sequencing 6. Parental unwillingness to participate in 1 year postnatal follow-up 7. Language barrier (non-English or Spanish speaking) 8. Delivery planned at a site other than one of the study centers or associated hospitals 9. Previous consent to the unsequenced prenatal group or enrollment in a previous pregnancy Unsequenced Group 1. Maternal or paternal age less than 18 years old 2. Proven infectious or teratogenic cause of fetal anomaly 3. Positive prenatal NIPT screening for trisomy 21,18 or 13. Positive 22q11.2 prenatal NIPT testing with consistent ultrasound findings is also an exclusion. 4. Planned termination of the pregnancy 5. Parental unwillingness to participate in 1 year postnatal follow-up 6. Language barrier (non-English or Spanish speaking) 7. Delivery planned at a site other than one of the study centers or associated hospitals