Prenatal Genetic Diagnosis by Genomic Sequencing
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.
Conditions:
🦠 Fetal Structural Anomalies
🗓️ Study Start (Actual) 28 June 2019
🗓️ Primary Completion (Estimated) August 2023
✅ Study Completion (Estimated) November 2023
👥 Enrollment (Estimated) 1100
🔬 Study Type OBSERVATIONAL
📊 Phase N/A
Locations:
📍 New York, New York, United States
📍 Chapel Hill, North Carolina, United States
📍 Cincinnati, Ohio, United States
📍 Houston, Texas, United States
📍 Houston, Texas, United States

📋 Eligibility Criteria

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

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 25 March 2019
  • First Submitted that Met QC Criteria 30 April 2019
  • First Posted 3 May 2019

Study Record Updates

  • Last Update Submitted that Met QC Criteria 20 October 2022
  • Last Update Posted 24 October 2022
  • Last Verified October 2022