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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
what is the age range for a neonate
infant between 0-28 days of birth
26
what is ultrasound used most for
fetal age and growth as well as anatomy/physiology functions
27
what likely occurs with high alpha fetoprotein
neural tube defects, multiple gestations
28
what likely occurs with low alpha fetoprotein
trisomies 18 and 21, IUGR
29
what is included with the triple marker
AFP, unconjugated estriol, beta-HCG
30
what is the most likely diagnosis with Low AFP, low unconjugated estriol and high beta-HCG
trisomy 21
31
what is the likely diagnosis with low AFP, low unconjugated estriol, and low beta-HCG
trisomy 18
32
when is chorionic villus sampling typically taken
10-13 weeks of gestation
33
what is chorionic villus sampling mostly used for
karyotyping, DNA extraction, enzyme analysis
34
when is amniocentesis typically preformed
16-18 weeks gestation
35
what is amniocentesis typically used for
amniotic fluid containing sloughed fetal cells, chromosomal abnormalities, fetal lung maturity
36
what is another name of isoretinoine
accutane
37
what is particularly common with use of trimethodione and diphenylhydantoin
cleft lip
38
what development is particularly sensitive to antidepressants
heart
39
what has anticoagulant warfarin lead to (abnormality in fetus)
skeletal abnormalities
40
what abnormalities has use of propylthiouracil and potassium iodide been associated with
goiter and intellectual disability
41
what abnormalities has use of streptomycin been associated with
hearing loss
42
what abnormalities has use of sulfonamides been associated with
kericterus
43
what abnormalities has use of antidepressant imipramine been associated with
limb deformities
44
what abnormalities has use of tetracyclines been associated with
bone and tooth anomalies
45
what abnormalities has use of amphetamines been associated with
oral clefts and cardiovascular abnormalities
46
what abnormalities has use of quinone been associated with
hearing loss
47
what abnormalities has use of LSDs been associated with
limb abnormalities and malformations of CNS
48
what abnormalities has cocaine been associated with
linked to premature labor, intrauterine growth retardation, spontaneous abortion
49
what abnormalities has use of cigarette smoking been associated with
increased risk for orofacial clefts as well as growth retardation and premature delivery
50
what is the leading cause of intellectual disability
alcohol
51
what are mothers with PKU more likely to have children with deficits of
intellectual disability, microcephaly, and cardiac defects
52
what is endemic cretinism (iodine deficiency) characterized by
stunted mental and physical growth
53
what does pre-pregnancy obesity increase the risk of your infant having
neural tube defects
54
what can occur with children who have high mercury exposure
symptoms resembling cerebral palsy
55
what is lead exposure to fetuses associated with
increased abortions, growth retardation, and neurological disorders
56
what is cri-du-crat syndrome caused by
partial deletion of the short arm of chromosome 5
57
what is cytogenic analysis used for
to assess chromosome number and intregrity
58
what is molecular techniques used for
specific DNA probes to identify policy for a few selected chromosomes and for detecting microdeletions
59
what uses spots of specific DNA sequences attached to a solid surface
microarrays

LECOM embryology (11 decks)

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