Description
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 or twin 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. 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)
Ages Eligible for Study:
18 Years to N/A (ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
Yes