复旦大学：《医学遗传学 Medical Genetics》课程教学资源（PPT课件讲稿）Birth defect

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

ntroduction

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