Rapid genetic testing and virtual genetic consults for newborns with unexplained birth defects in Texas

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

Baylor College of Medicine will provide rapid whole genome sequencing, with optional RNA sequencing, for up to 200 undiagnosed infants admitted to participating Texas NICUs over five years. Virtual genetic evaluations will be conducted via the Consultagene platform with support from the local hospital teams, and blood or buccal swabs will be collected from infants and parents for testing. Results are returned in about a week and families receive genetic counseling through a virtual visit, with additional testing as needed. The study will also collect provider feedback, surveys, and interviews and will store deidentified DNA and clinical data for future research.

Why it matters

Who can join: the full rules

Inclusion Criteria:

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

Exclusion Criteria:

* (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.

Where it's running

• Baylor College of Medicine
  Houston, Texas, United States Recruiting

Study contacts

• Principal investigator: Brendan Lee, MD, PhD — Baylor College of Medicine
• Study coordinator: Seema R Lalani, MD
• Email: seemal@bcm.edu
• Phone: 281-224-0600

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.