CONGENITAL ANOMALIES

CONGENITAL ANOMALIES Isolated Malformation: Embryonic development failure or inadequacy (often multifactorial) Deformation: Abnormal mechanical forces distort otherwise normal structures (e.g., oligohydramnios) Disruption: Destruction/breakdown of previously normal tissue (e.g., ischemia) Multiple Association of Anomalies (Syndromic) Chromosomal Single gene Teratogenic Association (e.g., VACTERL) Things to Consider History – Prenatal: Maternal health, exposures, screening, ultrasounds; delivery; neonatal Family History – Three Generations: Prior malformations, stillbirths, recurrent miscarriages, consanguinity Physical Exam: Variants, minor anomalies, major malformation Diagnostic Procedures: Chromosomes, molecular/DNA, radiology, photography, metabolic Diagnostic Evaluations: Prognosis, recurrence, prenatal diagnosis, surveillance treatment