Chapter 10 Birth Defects

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BenWood
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268641
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Chapter 10 Birth Defects
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2014-03-31 19:37:51
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Birth Defects
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Chapter 10 Birth Defects
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  1. __________ is the study of developmental disorders.
    Teratology
  2. Conceptus is spontaneously aborted (miscarried) [42-69%]
    Conceptus Loss
  3. Greatest (conceptus) loss is __________.
    prior to implantation
  4. Post implantation loss varies with __________.
    maternal age
  5. Newborn has a structural, metabolic, functional, or behavioral anomaly.
    Congenital Abnormalities (Birth Defects)
  6. Major structural defects occur in __________ of newborns.
    2-3%
  7. With birth defects, the __________ is the organ most often affected.
    brain
  8. Minor, but significant anomalies occur in __________ of newborns.
    4-5%
  9. __________ is when a newborn dies shortly after birth.
    Perinatal Loss (1-2% of newborns)
  10. __________ is the failure of the brain to form.
    Anencephaly
  11. - Are genetic defects
    - Cause the majority of miscarriages & birth defects
    - Include chromosome mutations & gene mutations
    Intrinsic Factors
  12. __________ are environmental factors.
    Extrinsic Factors
  13. Chromosome mutations are usually ________.
    lethal
  14. __________ is a condition in which cells of individual have more than 2 sets of chromosomes.
    Polyploidy
  15. __________ embryos have 3 sets of chromosomes (3n=69).
    Triploid
  16. __________ embryos have 4 sets of chromosomes (4n=92).
    Tetraploid
  17. Chromosome mutations are usually due to __________ or __________.
    dispermy or digyny
  18. An egg fertilized by 2 sperm is __________.
    dispermy
  19. Sperm fertilizes a diploid oocyte is __________.
    digyny
  20. __________ is a condition in which the chromosome number is greater than or less than 46.
    Aneuploidy
  21. - Responsible for majority of miscarriages
    - Usually due to nondisjunction
    Aneuploidy
  22. Failure of homologous chromosomes to separate during gametogenesis (Meiosis I or Meiosis II) is __________.
    nondisjunction
  23. Undeveloped female; short in stature; normal intelligence; webbed neck; sterile.
    Turner Syndrome (45/X)
  24. Normal in appearance & intelligence; fertile
    Triple-X Female (47/XXX)
  25. Undeveloped male testes and penis; sparse hair, enlarged breasts, wide hips. Can have language and learning problems; usually sterile.
    Klinefelter Syndrome (47/XXY)
  26. Tall; increased risk of learning + language disabilities
    XYY male (47/XYY)
  27. Have mental retardation and congenital heart disease (Down Syndrome)
    Trisomy 21
  28. Most frequent type of trisomy; lethal.
    Trisomy 16
  29. Disordered array of embryonic tissues; cells contain 2 sets of maternal chromosomes
    Ovarian teratoma
  30. Severely abnormal conceptus; cells contain 2 sets of paternal chromosomes
    Hydatidiform mole
  31. Ex: Sickle cell anemia, cystic fibrosis, Tay-sachs, hemophilia, Duchenne muscular dystrophy, Huntington's disease, PKU
    Monogenic disorders
  32. - Caused by a single gene
    - Defective genes are autosomal dominant, autosomal recessive, or sex-linked recessive
    - Responsible for 7-8% of birth defects
    Monogenic disorders
  33. - Autosomal dominant gene located on chromosome #4
    - Individuals have normal sized head & trunk w/short limbs
    Achondroplasia (congenital dwarfism)
  34. - Autosomal dominant gene located on chromosome #4
    - Delayed onset of symptoms (50-60)
    - Cause progressive degeneration of nervous system
    Huntington's Disease
  35. - Autosomal recessive gene located on chromosome #12
    - Individuals lack enzyme that converts phenylalanine to tyrosine
    - Phenylalanine buildup causes permanent mental retardation
    - Screening is mandatory for newborns
    Phenylketonuria (PKU)
  36. - Autosomal recessive gene located on chromosome #7
    - Most common lethal genetic disease affects 1/2,500 (1/20 are carriers)
    - Individuals produce thick mucus
    Cystic Fibrosis (CF)
  37. - Autosomal recessive gene located on chromosome #11
    - Most common genetic disease among African-Americans - affects 1/375 (1/10 are carriers)
    - Individuals produce abnormal hemoglobin which causes RBCs to sickle
    Sickle Cell Anemia
  38. - Autosomal recessive gene located on chromosome #15
    - Affects 1/2,000 Ashkenazi Jews (1/30 are carriers)
    - Individuals lack enzyme that breaks down glycolipids
    - Buildup of glycolipids in nerve cells causes rapid degeneration of CNS (usually die by age 5)
    Infantile Tay-Sachs Disease
  39. - Sex-linked recessive gene located on X chromosome
    - Males affected more than females
    - Individuals experience rapid progression of muscle degeneration
    Duchenne Muscular Dystrophy (MD)
  40. - Sex Linked recessive gene located on X Chromosome
    - Males affected more than females
    - Individuals lack a blood clotting factor
    Hemophilia
  41. - Sex linked recessive gene located on X chromosome
    - Individuals lack enzyme that breaks down uric acid --> results in mental retardation & compulsive self-mutilation
    - Rare
    Lesch-Nyhan Syndrome
  42. - Conditions caused by 2 or more genes (in most cases, genes have not been ID'd for these disorders)
    - Responsible for 20-25% of birth defects
    Polygenic/Multifactorial Disorders
  43. Incomplete closing of spine during 4th week of embryonic development
    Spina bifida
  44. Bones of face not fused properly, leaving an opening in upper lip between mouth & nose
    Cleft lip
  45. Bones of palate not fused properly, oral & nasal cavity not separated
    Cleft palate
  46. Heart is completely formed in the 2nd month. Part of the heart, heart valves, and/or blood vessels near the heart do not develop properly, causing slow blood flow to/in the wrong direction/wrong place, or be blocked completely
    Congenital heart disease
  47. - External conditions that disrupt normal development of conceptus
    - Include maternal nutritional deficiency & exposure to teratogens
    Extrinsic Factors
  48. - Intrauterine growth retardation (IUGR)
    - Neural tube defects (spina bifida, anencephaly) *folic acid
    Maternal Nutritional Deficiency
  49. - Exposure of conceptus to viruses & bacteria
    - CNS is extremely sensitive to these
    Biological Teratogens
  50. Teratogen whose major effects are cardiac malformations, cataracts, glaucoma, IUGR, and mental retardation
    Rubella virus
  51. Teratogen whose major effects are microcephaly; growth failure
    Human immunodeficiency virus (HIV)
  52. Teratogen whose major effects are an enlarged liver and hemolytic anemia
    Herpes simplex virus
  53. Teratogen whose major effects are cataracts, hydrocephaly, neurological defects, and mental retardation
    Varicella (chickenpox) virus
  54. Teratogen whose major effects are congenital deafness, mental retardation, and hydrocephaly
    Treponema pallidum (Syphilis)
  55. Exposure of conceptus to prescription & nonprescription drugs
    Therapeutic Teratogens
  56. Drug prescribed for acne, whose major effects are neural tube defects and cardiovascular defects
    Isotretinoin (Accutane)
  57. Drug prescribed for epilepsy, whose major effects are microcephaly and mental retardation
    Dilantin
  58. Drug prescribed for morning sickness, whose major effects are abnormal limb development
    Thalidomide
  59. An antibiotic whose major effect is stained teeth
    Tetracycline
  60. Drug prescribed for acne, whose major effect is soriasis
    Retinoids
  61. Exposure of conceptus to alcohol, tobacco, cocaine & caffeine
    Recreational Teratogens
  62. Recreational teratogen whose major features are IUGR, microcephaly, fetal alcohol syndrome
    Alcohol
  63. Recreational teratogen whose major features are spontaneous abortions and IUGR
    Tobacco
  64. Recreational teratogen whose major features are IUGR and neurobehavioral abnormalities
    Cocaine
  65. Recreational teratogen whose major features are IUGR and prematurity
    Caffeine
  66. Teratogenic effect of drug deponds upon __________
    timing of exposure and the dose
  67. The __________ is the most sensitive period
    1st Trimester
  68. Exposure of conceptus to chemicals in the environment
    Environmental Teratogens
  69. Which period of conceptus development (preembryonic, embryonic, fetal) would be most sensitive to teratogen exposure?
    Embryonic (3rd - 8th week; 1st Trimester) - all tissues & organs are forming
  70. Prenatal diagnosis method that used ultrasound to produce image of developing conceptus
    Ultrasonography
  71. - Noninvasive
    - Useful during 2nd & 3rd trimesters
    - Locates placenta
    - Detects multiple pregnancies
    - Detects structural abnormalities
    Ultrasonography
  72. Test that measures alpha-fetoprotein levels in maternal serum
    Alpha-fetoprotein
  73. - Noninvasive
    - Conducted at 15-20 weeks
    - Increased or decreased levels of alpha-fetoprotein indicate a developmental disorder
    Alpha-fetoprotein
  74. Removal of small amount of amniotic fluid to examine fetal cells
    Amniocentesis
  75. - Invasive
    - Conducted at 16-18 weeks
    - Detects neural tube defects; chromosomal & genetic anomalies weeks later
    - Risk of miscarriage: 0.25 - 0.5%
    Amniocentesis
  76. Removal of a small portion of chorionic villi to examine cells
    Chorionic Villus Sampling (CVS)
  77. - Invasive
    - Conducted at 10-12 weeks
    - Detects chromosomal & genetic anomalies the next day
    - NOT neural tube defects
    - Risk of miscarriage: 0.5-1%
    Chorionic Villus Sampling (CVS)
  78. Sampling blood from the umbilical cord
    Cordocentesis
  79. - Invasive
    - Conducted at 18-24 weeks
    - Detects prenatal infections (Rubella, Herpes) & abnormal chromosome #
    - Risk of miscarriage: 1-2%
    Cordocentesis
  80. Removing one or more cells from a morula stage embryo
    Preimplantation Embryo Biopsy
  81. - Used in in vitro fertilization (IVF)
    - Detects chromosomal & genetic anomalies
    - Avoids need for abortion
    - Extremely expensive
    Preimplantation Embryo Biopsy

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