Prenatal Genetic Diagnosis by Genomic Sequencing
Completed
Conditions studied: Fetal Structural Anomalies
In brief
This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified by sequencing and that prenatal knowledge of this information will improve prenatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve the quality of life for both the child and the family.
Key facts
- Study ID
- NCT03936101
- Run by
- Columbia University
- People needed
- 1097
- Starts
- 2019-06-28
- Expected to finish
- 2024-03-25
- Last updated by the study team
- 2025-10-27
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Prenatal sequencing group
- Fetus identified by ultrasound and/or MRI with at least one of the following:
- One or more major structural anomalies (Appendix A)
- A nuchal translucency measurement of ≥ 3.5 mm
- 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.
- Negative prenatal CMA (or those with CMA findings not related to the ultrasound finding)
- Singleton or twin gestation
- Gestational age less than 36 weeks, 0 days to allow for availability of sequencing results before delivery
- Unsequenced Group
- Fetus identified by ultrasound and/or MRI with at least one of the following:
- One or more major structural anomalies (Appendix A)
- A nuchal translucency measurement of ≥ 3.5 mm
- 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
- Negative prenatal or postnatal CMA (or those with CMA findings not related to the ultrasound finding)
- Declined prenatal sequencing
- Singleton gestation
You may not qualify if…
- Prenatal Sequencing Group
- Prenatal sequencing or planned prenatal sequencing performed outside of the study, including gene panels
- Maternal or paternal age less than 18 years old
- Proven infectious or teratogenic cause of fetal anomaly
- Planned termination of the pregnancy
- Unavailable blood or saliva samples from both biologic parents prior to sequencing
- Parental unwillingness to participate in 1 year postnatal follow-up
- Language barrier (non-English or Spanish speaking)
- Previous consent to the unsequenced prenatal group or enrollment in a previous pregnancy
- Unsequenced Group
- Maternal or paternal age less than 18 years old
- Proven infectious or teratogenic cause of fetal anomaly
- Positive prenatal NIPT screening for trisomy 21,18 or 13. Positive 22q11.2 prenatal NIPT testing with consistent ultrasound findings is also an exclusion.
- Planned termination of the pregnancy
- Parental unwillingness to participate in 1 year postnatal follow-up
- Language barrier (non-English or Spanish speaking)
Where it is running
- Columbia University Medical Center — New York, New York, United States
- University of North Carolina Chapel Hill — Chapel Hill, North Carolina, United States
- Children's Hospital, Cincinnati Medical Center — Cincinnati, Ohio, United States
- Baylor College of Medicine — Houston, Texas, United States
- UT Health Houston — Houston, Texas, United States
Full record on ClinicalTrials.gov
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