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Can genetic sequencing improve care for unborn babies?

NCT ID NCT03936101

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked at whether genetic testing during pregnancy can help manage fetuses with ultrasound abnormalities. Over 1,000 participants were involved to see if finding genetic causes improves care, reduces unnecessary tests, and lowers costs. The goal is to better understand the benefits of prenatal genetic sequencing.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

1,097 people

The number who actually took part.

Started

Jun 2019

Finished

Mar 2024

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

A total of 1,100 pregnancies with fetal structural anomalies and meeting eligibility criteria will be enrolled into the study. Of these, 750 will undergo prenatal genomic sequencing (prenatal sequencing group) and the remaining 350 pregnancies will not have any prenatal genomic sequencing (unsequenced prenatal group). Enrollment of pregnancies with an isolated nuchal translucency measurements ≥ 3.5 mm will be restricted to 5% within each group (sequenced and unsequenced) and isolated estimated fetal weight \<5th %ile also will be restricted to 5% for each group (sequenced and unsequenced).

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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)

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As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Baylor College of Medicine

    Houston, Texas, 77030, United States

  • Children's Hospital, Cincinnati Medical Center

    Cincinnati, Ohio, 45229, United States

  • Columbia University Medical Center

    New York, New York, 10032, United States

  • UT Health Houston

    Houston, Texas, 77030, United States

  • University of North Carolina Chapel Hill

    Chapel Hill, North Carolina, 27514, United States

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