HSS 3305 Chapter 4: Congenital and Heriditary
Document Summary
Congenital disease: abnormalities caused by disturbed prenatal development, identified at birth, even though it may not be detected until sometime after birth. Causes chromosomal abnormalities, abnormalities of individual genes, intrauterine injury to embryo or fetus by intrinsic defects (majority) and extrinsic forces (uterine tumors, oligohydramnios), environmental factors on a genetically predisposed embryo. Intrauterine injury caused by harmful drugs and chemicals, radiation (x-rays, diagnostic test), maternal infections (toxoplasmosis, hiv, rubella, cytomegalovirus, herpes simplex virus) 3-8 wk after conception, embryo most vulnerable to injury as organ system are forming. Thalidomide drug taken by mother during critical phase of embryonic develop to treat morning sickness, it blocks formation of blood vessels and impede formation of tumor necrosis factor which damages cells and tissues. Cytomegalovirus infection severe systemic disease in newborn infant caused by an inapparent infection of the mother during pregnancy. Infectious agent can be identified by histologic examination, culture, or serologic methods.