Newborn screening analytes and structural birth defects among 27,000 newborns.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Emerging evidence suggests newborn screening analytes may offer insights into birth defect etiologies.
• No prior studies have comprehensively evaluated associations between a wide range of newborn screening analytes and birth defects.

Purpose of the Study:

• To investigate associations between a panel of newborn screening analytes and the presence of birth defects.
• To identify specific analytes and birth defects with significant correlations.

Main Methods:

• Population-based study using Texas statewide data from 2007-2009.
• Included birth defects, birth certificates, and newborn screening analytes.
• Regression analysis assessed associations between 36 analytes and 39 birth defects.

Main Results:

• 377 significant associations found among 1,404 evaluated analyte-birth defect pairs.
• Phenylalanine/tyrosine ratio, tyrosine, and thyroxine were most consistently associated with birth defects.
• Gastroschisis, cardiovascular defects, and spina bifida were most frequently associated with analytes.

Conclusions:

• Significant and novel associations between newborn screening analytes and birth defects were identified.
• Findings may help elucidate the underlying mechanisms and etiology of certain birth defects.