CONGENITAL ANOMALIES

MultipleIsolated CONGENITAL ANOMALIES Congenital Anomalies Embryonic development failure or inadequacy (often multifactorial) Destruction/ Breakdown of previously normal tissue (e.g. ischemia) Chromosomal Single Gene Teratogenic Association (e.g. VACTERL) Malformation Deformation Disruption Association of Anomalies (Syndromic) Abnormal mechanical forces distorting otherwise normal structures (e.g.exoligohydramnios)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, metabolicDiagnostic Evaluations - Prognosis, recurrence, prenatal diagnosis, surveillance, treatment