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LECOM embryology > lect 18- birth defects and prenatal diagnosis > Flashcards

lect 18- birth defects and prenatal diagnosis Flashcards

1
Q

what is the leading cause of death in infants 1 year and younger

A

congenital anomalies

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2
Q

what is the leading cause of death in children under 5 worldwide

A

malaria

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3
Q

what is an intrinsically abnormal process (occurs during formation of structures)

A

malformation

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4
Q

what type of abnormality is bladder extrophy

A

malformation

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5
Q

what is destructive forces of normal tissue

A

disruption

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6
Q

what type of abnormality is amniotic band syndrome

A

disruption

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7
Q

what is mechanical forces on normal tissue

A

deformation

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8
Q

what type of abnormality is club foot

A

deformation

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9
Q

what type of congenital anomaly is achondroplasia

A

monogenic

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10
Q

what type of congenital anomaly is TORCH

A

maternal infection

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11
Q

what are ear anomalies often associated with

A

kidney abnormalities

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12
Q

what disorder is characterized by severe intellectual disability, hypertonia, small facial features, rocker-bottomed feet, congenital heart defects and death in 95% in first year

A

trisomy 18

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13
Q

what disorder is characterized by midline defects of face and brain, holoprosencephaly, microcephaly, seizures, several intellectual disability, cleft lip and palate

A

trisomy 13

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14
Q

what disorders have similar phenotypes to turner syndrome

A

noonan syndrome and pseudohypoparathyroidism

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15
Q

what is the most common cause of male hypogonadism

A

klinefelter syndrome

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16
Q

what is the most common cause of prader willi syndrome

A

deletion of the paternally inherited allele of chromosome 15q11

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17
Q

how long is the embryonic period

A

3-8 weeks

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18
Q

what are the TORCH congenital infections

A

toxoplasmosis, rubella, CMV, herpes

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19
Q

what are the associated anomalies with tobacco

A

reduced fetal growth, polycythemia

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20
Q

what are the associated anomalies with cocaine

A

vascular disruptive events: cerebral infarction, urogenital anomalies, limb reductions defects

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21
Q

what are the associated anomalies with isotretinoin

A

CNS malformations, microtia, cardiac defects, thyme hypoplasia

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22
Q

what are the associated anomalies with valproic acid

A

midface hypoplasia, spina bifida, cardiac defects

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23
Q

what is the subspecialty of pediatrics that is concerned with sick newborns

A

neonatology

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24
Q

what is the subspecialty of obstetrics concerned with pregnant women and their fetuses

A

perinatology

25
Q

what is the age range for a neonate

A

infant between 0-28 days of birth

26
Q

what is ultrasound used most for

A

fetal age and growth as well as anatomy/physiology functions

27
Q

what likely occurs with high alpha fetoprotein

A

neural tube defects, multiple gestations

28
Q

what likely occurs with low alpha fetoprotein

A

trisomies 18 and 21, IUGR

29
Q

what is included with the triple marker

A

AFP, unconjugated estriol, beta-HCG

30
Q

what is the most likely diagnosis with Low AFP, low unconjugated estriol and high beta-HCG

A

trisomy 21

31
Q

what is the likely diagnosis with low AFP, low unconjugated estriol, and low beta-HCG

A

trisomy 18

32
Q

when is chorionic villus sampling typically taken

A

10-13 weeks of gestation

33
Q

what is chorionic villus sampling mostly used for

A

karyotyping, DNA extraction, enzyme analysis

34
Q

when is amniocentesis typically preformed

A

16-18 weeks gestation

35
Q

what is amniocentesis typically used for

A

amniotic fluid containing sloughed fetal cells, chromosomal abnormalities, fetal lung maturity

36
Q

what is another name of isoretinoine

A

accutane

37
Q

what is particularly common with use of trimethodione and diphenylhydantoin

A

cleft lip

38
Q

what development is particularly sensitive to antidepressants

A

heart

39
Q

what has anticoagulant warfarin lead to (abnormality in fetus)

A

skeletal abnormalities

40
Q

what abnormalities has use of propylthiouracil and potassium iodide been associated with

A

goiter and intellectual disability

41
Q

what abnormalities has use of streptomycin been associated with

A

hearing loss

42
Q

what abnormalities has use of sulfonamides been associated with

A

kericterus

43
Q

what abnormalities has use of antidepressant imipramine been associated with

A

limb deformities

44
Q

what abnormalities has use of tetracyclines been associated with

A

bone and tooth anomalies

45
Q

what abnormalities has use of amphetamines been associated with

A

oral clefts and cardiovascular abnormalities

46
Q

what abnormalities has use of quinone been associated with

A

hearing loss

47
Q

what abnormalities has use of LSDs been associated with

A

limb abnormalities and malformations of CNS

48
Q

what abnormalities has cocaine been associated with

A

linked to premature labor, intrauterine growth retardation, spontaneous abortion

49
Q

what abnormalities has use of cigarette smoking been associated with

A

increased risk for orofacial clefts as well as growth retardation and premature delivery

50
Q

what is the leading cause of intellectual disability

A

alcohol

51
Q

what are mothers with PKU more likely to have children with deficits of

A

intellectual disability, microcephaly, and cardiac defects

52
Q

what is endemic cretinism (iodine deficiency) characterized by

A

stunted mental and physical growth

53
Q

what does pre-pregnancy obesity increase the risk of your infant having

A

neural tube defects

54
Q

what can occur with children who have high mercury exposure

A

symptoms resembling cerebral palsy

55
Q

what is lead exposure to fetuses associated with

A

increased abortions, growth retardation, and neurological disorders

56
Q

what is cri-du-crat syndrome caused by

A

partial deletion of the short arm of chromosome 5

57
Q

what is cytogenic analysis used for

A

to assess chromosome number and intregrity

58
Q

what is molecular techniques used for

A

specific DNA probes to identify policy for a few selected chromosomes and for detecting microdeletions

59
Q

what uses spots of specific DNA sequences attached to a solid surface

A

microarrays

LECOM embryology (11 decks)

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