RecruitingNot ApplicableNCT07102966

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

MAGNET: Making Genomics Accessible For Newborns In Texas

Sponsor

Baylor College of Medicine

Enrollment

410 participants

Start Date

Oct 28, 2025

Study Type

INTERVENTIONAL

Conditions

Rare Diseases

Summary

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.

Eligibility

Min Age: 1 DayMax Age: 90 Days

Inclusion Criteria1

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

Exclusion Criteria1

(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.

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