Actively Recruiting
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
Led by Baylor College of Medicine · Updated on 2026-01-27
410
Participants Needed
1
Research Sites
196 weeks
Total Duration
On this page
Sponsors
B
Baylor College of Medicine
Lead Sponsor
N
National Human Genome Research Institute (NHGRI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering feedback from healthcare providers. Researchers will provide rapid whole genome sequencing (WGS) to 200 infants over a period of 5 years. Data will be collected via Consultagene, surveys, and qualitative interviews.
CONDITIONS
Official Title
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Undiagnosed infants from 0-90 days of age with diverse phenotypes and suspected genetic disorders
You will not qualify if you...
- Abnormal noninvasive prenatal testing indicating chromosomal abnormalities
- Abnormal amniocentesis results
- Abnormal newborn screening for inborn errors of metabolism
- Abnormal FISH results for aneuploidy such as trisomy 18, 13, or monosomy X
- Diagnosis of Down syndrome
- Dysmorphic features without other congenital anomalies
- Isolated birth defects like myelomeningocele, cleft lip/palate, cardiac septal defects, isolated congenital diaphragmatic hernia
- Birth defects caused by known teratogens such as alcohol or Isotretinoin
- Multiple congenital anomalies linked to maternal diabetes
- VACTERL association
- Hemodynamically unstable newborns requiring transport for higher level care
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
Research Team
S
Seema R Lalani, MD
CONTACT
S
Stacey Pereira, PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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