Congenital Malformation Flashcards Preview

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Flashcards in Congenital Malformation Deck (51):
1

Phocomelia

Seal like limbs

2

Amelia

Absence of 1+ limbs

3

Meromelia

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

4

Warfarin

Oral anticoagulant
Tetratogen

5

Symptoms of congenital rubella syndrome

Microcephaly
Deafness
PDA
Cataracts
Hypoglycemia
Intellectual impairment

6

Syndromes

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

7

Macrosomic

Weighing 10+ lbs at birth

8

Retinoic acid

Potent teratogen used to treat cystic acne

9

PKU

Inability to break down phenylalanine therefore it accumulates

10

Amniocentesis

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

11

Klinefelter Syndrome

Male with extra X chromosome

12

Polydactyly

Extra fingers or toes

13

AFP

Alpha fetaprotein
Abnormally high or low levels may indicate an abnormality

14

Neural tube defects

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

15

Anencephaly

Brain and skull fail to develop normally; death after birth

16

Myelomeningocele

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

17

Thalidomide

Sedative for pregnant women marketed in 1960s
Teratogen causing limb abnormalities

18

Omphalocele

Intestine and abdominal organs are outside the body
Indicated by increased AFP

19

Gastrochisis

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

20

Extrophy of the bladder

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

21

Diaphragmatic hernia

Abnormal opening in the diaphragm

22

Chorion Villus Sampling

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

23

Cystic fibrosis

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

24

Tay Sachs

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

25

Thalassemia

Blood disorder from abnormal hemoglobin
Causes anemia and death
Autosomal recessive

26

Muscular dystrophy

X-linked
Progressive weakening and wasting of the muscles

27

Hemophilia

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

28

Iatrogenic

Illness caused by medical examination or treatment

29

Omphalocele

Intestine and abdominal organs are outside the body
Indicated by increased AFP

30

Gastrochisis

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

31

Extrophy of the bladder

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

32

Diaphragmatic hernia

Abnormal opening in the diaphragm

33

Chorion Villus Sampling

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

34

Cystic fibrosis

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

35

Tay Sachs

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

36

Thalassemia

Blood disorder from abnormal hemoglobin
Causes anemia and death
Autosomal recessive

37

Muscular dystrophy

X-linked
Progressive weakening and wasting of the muscles

38

Hemophilia

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

39

Iatrogenic

Illness caused by medical examination or treatment

40

Fragile X Syndrome

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

41

Osteogenesis Imperfecta

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

42

Teratogenic effects of diarrhetics

Oligohydramnios

43

Teratogenic effects of retinoic acid

Microtia

44

Teratogenic effects of cigarettes

Low birth weight

45

Teratogenic effects of warfarin

Cerebral hemorrhage, hypoplasia of the nose and long bones

46

Birth defects with maternal diabetes

Caudal dysgenesis
Sirenomelia
Congenital heart disease
Macrosomic
Hypertrophic cardiomyopathy
Other abnormalities

47

Characteristics of Fetal Hydratoin Syndrome

Wide spread eyes
Low set ears
NS abnormalities
Hypoplasia

48

Changes in endometrial lining during ovulation

Development of large spiral blood vessels
Accumulation of glycogen and other nutrients

49

Changes in vagina during ovulation

Consistency of vaginal mucous decreases
pH becomes more basic

50

Corpus luteum degenerates into

Corpus albicans

51

3 cavities that form in the blastocyst

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