Congenital Malformation Flashcards

1
Q

Phocomelia

A

Seal like limbs

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2
Q

Amelia

A

Absence of 1+ limbs

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3
Q

Meromelia

A

Partial absence of a limb with attachment of hand to upper limb

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4
Q

Warfarin

A

Oral anticoagulant

Tetratogen

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5
Q

Symptoms of congenital rubella syndrome

A
Microcephaly
Deafness
PDA
Cataracts
Hypoglycemia
Intellectual impairment
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6
Q

Syndromes

A

Multiple malformations occurring in the same individual for which a cause is known

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7
Q

Macrosomic

A

Weighing 10+ lbs at birth

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8
Q

Retinoic acid

A

Potent teratogen used to treat cystic acne

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9
Q

PKU

A

Inability to break down phenylalanine therefore it accumulates

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10
Q

Amniocentesis

A

Withdrawal of amniotic fluid transabdominally under ultrasound guidance
Performed at 14-16 weeks
Diagnostic test to detect chromosome abnormalities

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11
Q

Klinefelter Syndrome

A

Male with extra X chromosome

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12
Q

Polydactyly

A

Extra fingers or toes

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13
Q

AFP

A

Alpha fetaprotein

Abnormally high or low levels may indicate an abnormality

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14
Q

Neural tube defects

A

Neural tube fails to close and remains in communication with amniotic fluid
(Increased AFP can indicate NTD)

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15
Q

Anencephaly

A

Brain and skull fail to develop normally; death after birth

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16
Q

Myelomeningocele

A

Defect low in vertebrae column through which the spinal cord and its meninges may be extruded

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17
Q

Thalidomide

A

Sedative for pregnant women marketed in 1960s

Teratogen causing limb abnormalities

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18
Q

Omphalocele

A

Intestine and abdominal organs are outside the body

Indicated by increased AFP

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19
Q

Gastrochisis

A

Defect in the anterior abdominal wall through which the abdominal contents protrude
Indicates by increased AFP

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20
Q

Extrophy of the bladder

A

Protrusion of the urinary bladder through a defect in the abdominal wall
Indicated by increased AFP

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21
Q

Diaphragmatic hernia

A

Abnormal opening in the diaphragm

22
Q

Chorion Villus Sampling

A

Needle inserted through abdomen or cervix
Small amount of placenta is sampled
Performed at 9-11 weeks gestation
Can detect chromosome abnormalities

23
Q

Cystic fibrosis

A

Problem with electrolyte transport across epithelial cells resulting in chronic lung disease, intestinal problems, and infertility

24
Q

Tay Sachs

A

Hexoamidase A deficiency resulting in the accumulation of GM2 gangloside in brain cells; causes neurodegeneration

25
Q

Thalassemia

A

Blood disorder from abnormal hemoglobin
Causes anemia and death
Autosomal recessive

26
Q

Muscular dystrophy

A

X-linked

Progressive weakening and wasting of the muscles

27
Q

Hemophilia

A

X-linked

Missing clotting factors (8 or 9) causing excessive bleeding, bruising, and bleeding into the joints

28
Q

Iatrogenic

A

Illness caused by medical examination or treatment

29
Q

Omphalocele

A

Intestine and abdominal organs are outside the body

Indicated by increased AFP

30
Q

Gastrochisis

A

Defect in the anterior abdominal wall through which the abdominal contents protrude
Indicates by increased AFP

31
Q

Extrophy of the bladder

A

Protrusion of the urinary bladder through a defect in the abdominal wall
Indicated by increased AFP

32
Q

Diaphragmatic hernia

A

Abnormal opening in the diaphragm

33
Q

Chorion Villus Sampling

A

Needle inserted through abdomen or cervix
Small amount of placenta is sampled
Performed at 9-11 weeks gestation
Can detect chromosome abnormalities

34
Q

Cystic fibrosis

A

Problem with electrolyte transport across epithelial cells resulting in chronic lung disease, intestinal problems, and infertility

35
Q

Tay Sachs

A

Hexoamidase A deficiency resulting in the accumulation of GM2 gangloside in brain cells; causes neurodegeneration

36
Q

Thalassemia

A

Blood disorder from abnormal hemoglobin
Causes anemia and death
Autosomal recessive

37
Q

Muscular dystrophy

A

X-linked

Progressive weakening and wasting of the muscles

38
Q

Hemophilia

A

X-linked

Missing clotting factors (8 or 9) causing excessive bleeding, bruising, and bleeding into the joints

39
Q

Iatrogenic

A

Illness caused by medical examination or treatment

40
Q

Fragile X Syndrome

A

X chromosome that is abnormally susceptible to damage, especially from folic acid deficiency

41
Q

Osteogenesis Imperfecta

A

Defect in collagen biosynthesis that results in bones that are easy to break

42
Q

Teratogenic effects of diarrhetics

A

Oligohydramnios

43
Q

Teratogenic effects of retinoic acid

A

Microtia

44
Q

Teratogenic effects of cigarettes

A

Low birth weight

45
Q

Teratogenic effects of warfarin

A

Cerebral hemorrhage, hypoplasia of the nose and long bones

46
Q

Birth defects with maternal diabetes

A
Caudal dysgenesis
Sirenomelia
Congenital heart disease
Macrosomic
Hypertrophic cardiomyopathy
Other abnormalities
47
Q

Characteristics of Fetal Hydratoin Syndrome

A

Wide spread eyes
Low set ears
NS abnormalities
Hypoplasia

48
Q

Changes in endometrial lining during ovulation

A

Development of large spiral blood vessels

Accumulation of glycogen and other nutrients

49
Q

Changes in vagina during ovulation

A

Consistency of vaginal mucous decreases

pH becomes more basic

50
Q

Corpus luteum degenerates into

A

Corpus albicans

51
Q

3 cavities that form in the blastocyst

A
  1. Amniotic cavity
  2. Yolk sac cavity
  3. Extradmbryonic ceolum