Birth defects Shun Zhu, Department of Cellular and Genetic Medicine
Birth Defects Shun Zhu, Department of Cellular and Genetic Medicine
a boy with Down Syndrome
A Boy with Down Syndrome
Outline Introduction Genetic Defects Neural tube defect Mouth /facial defects D Limb defects Congenital Heart Defects Summary
Outline Introduction Genetic Defects Neural Tube Defect Mouth/facial defects Limb defects Congenital Heart Defects Summary
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Introduction
What are birth defects Birth defects are anom alities of structure or function of the body that are present at birth Structural birth defects o Functional birth defects Birth defects ARE NOT impairment of body function or structure due to adverse influences to which the infant has been subjected at birth- birth injuries
What are birth defects? Birth defects ARE abnormalities of structure or function of the body that are present at birth Structural birth defects Functional birth defects Birth defects ARE NOT impairment of body function or structure due to adverse influences to which the infant has been subjected at birth – birth injuries
Structural birth Defects related to how a body part/structure looks D Cleft lip/palate Heart defects, e.g. misshaped valves Abnormal limbs, e.g. clubfoot Neural tube defects, e.g. spina bifida
Structural Birth Defects related to how a body part/structure looks Cleft lip/palate Heart defects, e.g. misshaped valves Abnormal limbs, e.g. clubfoot Neural tube defects, e.g. spina bifida
Functional birth defects related to how a body part/structure works D Central Nervous System problems, e.g. Down syndrome Sensory problems, e.g. blindness Metabolic disorders, e. g, phenylketonuria(PKU Degenerative disorders, e.g. muscular dystrophy
Functional Birth Defects related to how a body part/structure works Central Nervous System problems, e.g. Down syndrome Sensory problems, e.g. blindness Metabolic disorders, e.g., phenylketonuria (PKU) Degenerative disorders, e.g. muscular dystrophy
a Collection of birth defects with cleftatrsia= intestinal co abnormalities f palate stenosis omphalocele parasiticus fistula la hypospadias a defects 星+geia hypoplastic dysplasia deformity foot
A Collection of Birth Defects
How common are they? defects, by cted maternal and infant characteristics and maternal race/- Metropolitan Atlanta Congenital Defects Program(MACDP), 1978-2005T Birth Defects Surveillance and Research-ICBDSR 46 Members in 38 Countries, 4. 5 ml births/year Britisn Columbs 41000 120000Q 198019831986199 1921m92m1 0032005 Birth years deformation t New Zealand adverse effect 5n00 f2005 data are preliminary. Mantel-Haenszel test for trend, p=0.19 Numbers mean births per ye In the Us/world, N% babies born with a birth defect http://www.cdc.gov
How common are they? In the US/world, ~3% babies born with a birth defect http://www.cdc .gov/
Top 6 Common Birth Defects Genetic defects e.g. Down syndrome: 6,916 babies per year Mouth/facial defects (cleft lip): 6, 776 babies per year Heart defects: 6, 527 babies per year MuscUloskeletal defects(including arm/eg defects): 5, 799 babies per year Stomach/intestinal defects: 2, 883 babies per year Eye defects: 834 babies per year CDC, Morbidity and Mortality Weekly Report, Jan. 6, 2006; vol 54: pp 1301-1305
Top 6 Common Birth Defects Genetic defects (e.g. Down syndrome): 6,916 babies per year Mouth/facial defects (cleft lip): 6,776 babies per year Heart defects: 6,527 babies per year Musculoskeletal defects (including arm/leg defects): 5,799 babies per year Stomach/intestinal defects: 2,883 babies per year Eye defects: 834 babies per year CDC, Morbidity and Mortality Weekly Report, Jan. 6, 2006; vol 54: pp 1301-1305