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Birth Defects and Prenatal Diagnosis
Birth Defects and Prenatal Diagnosis
1. Birth defects
2. Known etiology of birth defects
3. Malformation
4. Disruption
5. Deformation
6. Association
7. Principles of Teratology
objectives
1. Teratogens Associated With Human Malformations
2. Prenatal diagnosis
3. Ultrasound
4. Maternal Serum Screening
5. Amioncennthesis
6. Chorionic villus sampling
7. Fetal surgery
8. Fetal medical treatment
9. Prevention of birth defects
Birth Defects
• Birth defect, congenital malformation, and
congenital anomaly are synonymous terms
used to describe structural, behavioral,
functional, and metabolic disorders present at
birth.
Teratology and Dysmorphology
TERATOLOGY
• That division of embryology and pathology dealing with abnormal
development and congenital deformations.
Or
• Science that studies the origin, causes, and prevention of birth
defects.
DYSMORPHOLOGY
Study of the causes, prognoses, treatment and prevention of birth
defects. Usually, a dysmorphologist is a clinical geneticist in a
genetics department. or
The branch of clinical genetics concerned with the study of
structural defects, especially congenital malformations.
• Major structural anomalies occur in
approximately 3% of live born infants, and
birth defects are a leading cause of infant
mortality, accounting for approximately 25%
of infant deaths.
• They are the fifth leading cause of years of
possible life lost prior to age 65 and a major
contributor to disabilities.
• They are also non-discriminatory; the
frequencies of birth defects are the same for
Asians, African Americans, Latin Americans,
Whites, and Native Americans.
Aetiology of birth defects
Mycophenylate mofetil Cleft lip and palate, heart defects, microtia, microcephaly
Industrial solvents Low birth weight, craniofacial and neural tube defects
Maternal diabetes Various malformations; heart and neural tube defects most
common