PHED-4547EL Lecture Notes - Lecture 4: Congenital Disorder, Fetal Alcohol Spectrum Disorder, Amniotic Fluid
27 Apr 2020
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Document Summary
Congenital disease: abnormality present at birth, even though it may not be detected until some time after birth (hereditary or not) Congenital malformation: intrinsic defect in development: genetic, environmental or mixed. Hereditary or genetic disease: results from a chromosome abnormality or a defective gene. High percentage of pregnancies are lost due to defects. Minor malformations usually cosmetic: could occur in over 10% of live births, multiple minor malformations could indicate a congenital syndrome, defect characterized by common set of abnormalities related to a single cause. Fetal deformation: mispositioning or compression of fetus (e. g. , intrauterine tumour) Fetal disruptions: physical disruption of fetus (e. g. , fibrous bands in amniotic fluid) Intrauterine injury to embryo or fetus: environmental factors, chromosomal abnormalities, abnormalities of individual genes. Hereditary or genetic disease: results from a chromosome abnormality or defective expression of a gene due to a mutation. Common defects: congenital heart disease, cleft lip and palate, neural tube defects. Approximately half of birth defects have unknown cause.
