Genomics, Single Nucleotide Polymorphisms (SNPs), and Clinical Neonatology

Genomics, SNPs, and Clinical Neonatology

This research seeks to establish a neonatal DNA Tissue Bank to find out if differences in small segments of DNA predispose babies to Chronic Lung Disease (CLD), Periventricular Brain Injury (PVI), Necrotizing Enterocolitis (NEC), or Hypoxic Respiratory Failure (HRF).

This genetic predisposition study does not involve investigational drugs, devices, or treatments. Our broad goal is to identify genomic factors, which contribute to the development or exacerbation of common and critical illnesses that affect preterm and near-term infants. We seek to accomplish this goal in the following ways:

• First: to test candidate gene DNA variations and link already identified single nucleotide polymorphisms (SNPs) producing functional alterations to the risk of clinically important disorders.
• Second: to utilize a whole-genomic approach to identify SNPs not previously linked to the risk of development or progression of neonatal disorders.

Inclusion Criteria:

• Less than 34 weeks gestation and less than 1500 g at birth
• Greater than or equal to 36 weeks gestation and either with hypoxic respiratory failure or with mild respiratory distress never requiring assisted ventilation

Exclusion Criteria:

• Life threatening anomalies of any organ system (e.g., cardiac, thoracic, lethal, or non-lethal chromosomal abnormalities)