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Human Birth Defects 陳建榮

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Presentation on theme: "Human Birth Defects 陳建榮"— Presentation transcript:

1 Human Birth Defects 陳建榮

2 Cogenital anomaly 先天性畸形 Teratology 畸胎學

3 Cause of human congenital anomalies Chromosome 染色体異常 7% – 8% Gene 基因突變 6% – 7% Multifactorial inheritance 多重因子遺傳 7% – 10% Environmental agents 環境因素 20% – 25% Unknown 未知病因 50% – 60%

4 Anomalies caused by genetic factors: -Numerical chromosome abnormalities -Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21) -Edwards syndrom (trisomy of chromosones 18) -Patau syndrom (trisomy of chromosones 13) -Monosomy X chromosome -Trisomy of sex chromosomes (tabel 8-2) -XXX -XXY -XYY -Terasomy and pentasomy -XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY -Triploidy or tetraploidy -Structural chromosome abnormalities

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6 Anomalies caused by genetic factors: -Numerical chromosome abnormalities -Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21) -Edwards syndrom (trisomy of chromosones 18) -Patau syndrom (trisomy of chromosones 13) -Monosomy X chromosome -Trisomy of sex chromosomes (tabel 8-2) -XXX -XXY -XYY -Terasomy and pentasomy -XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY -Triploidy or tetraploidy -Structural chromosome abnormalities

7 Down syndrome (table8-1) 1. Incidence = 1: Chromosome Incidence & maternal age (table 8-2)

8 Edwards syndrom (table8-1) 1.Incidence = 1: Chromosome 18

9 Patau syndrom (table8-1) 1.Incidence = 1: Chromosome 13

10 Anomalies caused by genetic factors: -Numerical chromosome abnormalities -Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21) -Edwards syndrom (trisomy of chromosones 18) -Patau syndrom (trisomy of chromosones 13) -Monosomy X chromosome -Turner syndrome (X,45) -Trisomy of sex chromosomes (tabel 8-2) -XXX (female, 1:960) -XXY -XYY -Terasomy and pentasomy -XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY -Triploidy or tetraploidy -Structural chromosome abnormalities

11 Turner syndrome (table8-1) 1.Incidence =1:8000

12 Turner syndrome

13 Anomalies caused by genetic factors: -Numerical chromosome abnormalities -Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21) -Edwards syndrom (trisomy of chromosones 18) -Patau syndrom (trisomy of chromosones 13) -Monosomy X chromosome -Trisomy of sex chromosomes (tabel 8-2) -XXX (female, 1:960) -XXY -XYY -Terasomy and pentasomy -XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY -Triploidy or tetraploidy -Structural chromosome abnormalities

14 Klinefelter syndrom (XXY) (table 8-3) 1.Male 2.Incidence 1: Small testes, hyalinization of seminiferous tubules (aspermatogenesis)

15 Anomalies caused by genetic factors: -Numerical chromosome abnormalities -Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21) -Edwards syndrom (trisomy of chromosones 18) -Patau syndrom (trisomy of chromosones 13) -Trisomy of sex chromosomes (tabel 8-2) -XXX (female, 1:960) -XXY -XYY -Terasomy and pentasomy -XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY -Triploidy or tetraploidy -Structural chromosome abnormalities

16 Triploidy

17 Structural chromosome abnormalities: -Translocation 移位 -Deletion 削除 -Duplications 複製 -Inversion 反轉 -Isochromosomes 同染色體

18 Structural chromosome abnormalities Reciprocal translocation Terminal deletion Ring chromosome Duplication Isochromosome Paracentric inversion Robertsonian translocation

19 Cri du chat syndrome 貓叫症候群

20 Anomalies caused by genetic factors: -Numerical chromosome abnormalities -Trisomy of autosomes (table 8-1) -Turner syndrom (trisomy of chromosones 21) -Edwards syndrom (trisomy of chromosones 18) -Patau syndrom (trisomy of chromosones 13) -Trisomy of sex chromosomes (tabel 8-2) -XXX (female, 1:960) -XXY -XYY -Terasomy and pentasomy -XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY -Triploidy or tetraploidy -Structural chromosome abnormalities -Mutant genes

21 Achondroplasia 軟骨發育不全 (Fibroblast) 先天性成骨不全 ALD 腎上腺腦白質退化不良症 -X chromosome

22 Anomalies caused by enviromental factors -Teratogens 致畸原 (table 8-6) -Critical period of human development -Dosage of the drug or chemical -Genotype of the embryo

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24 Critical period of human development

25 Environmental factors -Drugs -Alcohol -Isotretinoin (13-cis-retinoic acid) -Lithium -Phenytoin -Thalidomide -Warfarin -Chemicals -Methylmercury (Minamata bay disease) -PCB (polychlorinated biphenyls) -Infection -CMV, HSV, HIV, Parvovirus B19, Rubella, Varicella, Toxoplasmosis, Syphilis -Radiation (vs Electromagnetic field, Ultrasound) -* > millirads: harmful to CNS -* diagnostic level: no conclusive proof -chest 1 millirad -pelvis 0.3 – 2 rad -* upper limit of maternal exposure 500 millirad -* embryo exposure < 5rad: minuscule -Maternal factor -DM, PKU -Mechanical factors

26 Fetal alcohol syndrome (FAS) 胎兒酒精症侯群

27 Masculinized external genitalia 外生殖器男性化

28 Anticonvulsants 抗痙攣藥 -Trimethadione -Phenytoin Hydantoin syndrome

29 Tranquilizers 鎭靜劑 -Thalidomide 抗生素 抗凝血劑 止吐藥 抗腫瘤藥 皮質類固醇 鉀鹽 ……..

30 Rubilla 德國麻疹

31 Toxoplasmosis 弓漿蟲

32 Body cavity, Mesenteries, and Diaphragm 陳建榮

33 Intraembryonic mesoderm Extraembryonic mesoderm E21 day

34 胸壁、腹壁 Dorsal mesentery 背側腸系膜 Dorsal mesentery: -Intraembryonic mesoderm -Extraembryonic mesoderm

35 Embryonic folding

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38 Mesenteries: -Derived from intra- and extra-embryonic mesoderm -Dorsal mesentery -Foregut, midgut, hindgut -greater omentum, mesentery, mesocolon … -Ventral mesentery -Foregut -Lessor omentum, falciform lig., coronary lig ….

39 Division of embryonic body cavity Embryonic cavities: -Pleura cavity -Pericardial cavity -Peritoneal cavity 心包腹膜管 橫中膈

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41 E33 day

42 Pleura and pericardial cavities formation 胸膜心包褶 胸膜心包膜 纖維性心包膜

43 Diaphragm formation

44 Diaphragm

45 E24 dayE41 dayE52 day

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47 Cogenical diaphragmatic hernia 先天性橫膈疝氣 Polyhydramnions Left-side defects

48 Eventration of diaphragm 橫膈上升

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