congenital anomalies & t heir incidence rates

Congenital Anomalies & Their Incidence RatesWadie Waterman

In General…• Congenital anomalies

are also known as birth defects• About 3-4% of babies

are born with congenital anomalies• Most occur due to

environmental and genetic factors• Often the causes are

unknown

• Many parents assume that all birth defects are severe or even fatal, but the fact is that many are treatable, often immediately after birth — and sometimes even before the baby is born.

Genetic and Environmental Causes• Inheritance• Chromosome abnormalities• Single gene defects• Multifactorial inheritance (many factors involved)• Teratogens (a birth defect causing agent like alcohol abuse)

Most Common • Cleft lip and palate• Can occur separately

on in conjunction with one another• Unilateral or bilateral• Occur 1 per every 500-

700 births

Most Common• Syndactyly &

polydactyly• Syndactyly occurs

when a newborns digits fail to separate, resulting in webbed hands or feet• Polydactyly is the

complete or partial duplication of digits

Most Common• Radial Dysplasia &

Hyperplasia• “clubhand”• Failure of the radius

and adjacent soft tissues to fully develop

Congenital Heart Defects• Approximately 8 out of

every 1,000 newborns have congenital heart defects, ranging from mild to severe.

• Result in incomplete or abnormal development of the fetus’ heart during very early stages of pregnancy.

• Usually causes are unknown but can be associated with genetic disorders.

• Common ones:• Aortic Stenosis• Atrial Septal Defect• Atrioventricular Canal

Defect• Coarction of the Aorta• Hypoplastic Left Heart

Syndrome• Pulmonary Atresia• Pulmonary Stenosis

Congenital Brain Defects• Spina Bifida• Meningomyelocele• Hydroencephalus• Schizencephaly (split

brain)• Megalencephaly