Last updated on February 2020

Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Birth Defects | Multiple Malformation | Female Hormonal Deficiencies/Abnormalities | Male Hormonal Deficiencies/Abnormalities | Hereditary Disease | CONGENITAL ANOMALY NOS | Growth Hormone Deficiencies/Abnormalities
  • Age: - 1 Years
  • Gender: Male or Female

Inclusion Criteria:

One of the following criteria required.

  1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals
  2. Clinical genetic testing or a genetic consult is ordered
  3. Subject has one major structural anomaly or three or more minor anomalies
  4. Abnormal laboratory testing suggestive of a genetic disease
  5. Abnormal response to standard therapy for a major underlying condition

Exclusion Criteria:

  1. Previously performed exome/genome sequencing on patient
  2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood
  3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)
  4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
  5. Parents refuse consent

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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