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Genetic Study for Birth Defects in Texas Newborns

This study is looking for the causes of birth defects in seriously ill newborns in Texas hospitals that may not have many resources, especially near the Texas-Mexico border. It uses rapid whole genome sequencing (a test that looks at all of a baby's genes) and virtual genetic evaluations to help find a diagnosis. The study is for babies from 1 day to 90 days old who have birth defects and are thought to have a genetic problem that hasn't been diagnosed yet. Researchers also want to see how well a virtual tool called Consultagene works for doctors. The study aims to enroll 410 babies, but the current status of enrollment is unclear.

Study design
This is an interventional study with a planned enrollment of 410 participants. It is not specified if it is randomized or blinded.
What's involved
If your baby joins, they will have a virtual genetic evaluation, blood or cheek swab samples taken, and genetic counseling. You will also be asked to complete two short surveys.
Compensation
Not stated in the trial record.
Follow-up
Families will be followed from enrollment until the end of treatment, which is up to 4 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07102966

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

Recruiting
NAAges 1–90InterventionalDiagnostic
Baylor College of Medicine
~410 participants
Updated 2026-01-27 on ClinicalTrials.gov
What's tested:Rapid whole genome sequencing

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Effectiveness of Consultagene
Measured over From enrollment to the end of treatment-4 years

Conditions

Rare Diseases

Explore related trials

Rare Disorder

Where it's being run

1 sites across 1 states
Texas1

Study leadership

  • Brendan Lee, MD, PhD · PRINCIPAL_INVESTIGATOR · Baylor College of Medicine

Who to contact

Seema R Lalani, MD
[email protected]
281-224-0600
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Undiagnosed infants from 0-90 days of age, with a diverse group of phenotypes and strongly suspected to have genetic disorders.

Exclusion

(1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating an inborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence of other congenital anomalies; (7) isolated birth defects such as myelomeningocele, cleft lip/palate, cardiac septal defects, isolated congenital diaphragmatic hernia, etc.; (8) birth defects due to known teratogens i.e., alcohol, Isotretinoin, etc.; (9) multiple congenital anomalies associated with maternal diabetes; (10) VACTERL association; and (11) hemodynamically unstable newborns needing transport for higher level of care.

What this trial measures

  • Effectiveness of ConsultageneFrom enrollment to the end of treatment-4 years

    The primary outcome will be effectiveness of Consultagene, defined as difference in diagnostic yield compared to usual care.