final chp 16 congenital bullshit Flashcards
1
Q
the three causes of congenital malformations?
A
- genetic or chromosomal factors
- environmental factors
- multifactorial or combination of 1 and 2
2
Q
what is a teratogen?
A
any agent that can produce a congenital malformation
3
Q
what is teratology?
A
the study of abnormal development
4
Q
what is the definition of a sign?
A
objective evidence of disease
5
Q
what is the definition of symptom?
A
subjective evidence of a disease
6
Q
what is the definition of syndrome?
A
set of symptoms and signs which occur together
7
Q
what is etiology?
A
study of the cause of disease
8
Q
when is the critical period for the nervous system?
A
3rd-7th week
9
Q
when is the critical period for the cardiac system?
A
4th-6th week
10
Q
when is the critical period for the ears?
A
4th to 8th week
11
Q
when is the critical period for the eyes?
A
4th to 8th week
12
Q
when is the critical period for the limbs?
A
4th to 7th week
13
Q
what does nondisjunction mean in relation to chromosomal factors?
A
- chromosomal disorders result from numerical abnormalities
- occurs during to cell division
14
Q
what is a normal karotype?
A
46,XY or 46XX
15
Q
what is an abnormal karotype?
A
trisomy
- 47(21)XY or 47 (21)XX
16
Q
what does trisomy of autosomes mean?
A
when there are three chromosomes present instead of the usual pair
17
Q
what is trisomy 21 referred to as?
A
downs syndrome
18
Q
what is the karotype of trisomy 21?
A
47 (21) XX or XY
19
Q
what is the rate of prevalence of trisomy 21?
A
1:800
20
Q
what are the physical characteristics of trisomy 21?
A
- small stature
- hyperflexed joints
- hypotonia
- microcephaly
- simian crease
- ulnar loops on all fingers
- small genitalia
- flat facial profile
- dry skin
21
Q
what are the cognitive characteristics of trisomy 21?
A
- intellectual disability (mental retardation)
- poor moro reflex
22
Q
what are the internal physical characteristics of trisomy 21?
A
- palpebral fissure
- inner epicanthus
- ASD,VSD
23
Q
what is the karotype of trisomy 18
A
47 (18) XX or XY
24
Q
what is trisomy 18 also known as?
A
edwards syndrome
25
what are the characteristics of trisomy 18?
- low birth weight
- failure to thrive
- severe intellectual disability
- flexion deformation of fingers
- overlapping fingers
- rocker bottom feet
- VSD,ASD,PDA
26
what are the characteristics of trisomy X?
- normal to low IQ
- cardiac, skin and hair, facial are normal
- scanty menses
- fertile
27
what is the other name for trisomy X?
triple X or super female syndrome
28
what is the occurrence of trisomy X?
1:700
29
what is the karotype or trisomy Y?
47, XXY male
30
what syndrome is associated with trisomy with Y?
klinefelter syndrome
31
what is the occurrence of trisomy Y?
1:500
32
what are the characteristics of trisomy Y?
- tall stature
- normal development
- IQ average
- Long legs compared to the trunk
- Cardiac normal
- Cryptorchism
- Hypogonadism
- chromatin positive
33
what are the characteristics of trisomy of Y modified klinefelters?
- tall stature
- normal IQ
- Hypertelorism
- Long legs
- scanty facial hair
- Crytorchism
- chromatin negative
34
what is the occurrence and karotype of modified klinefelters?
47XYY
1:1000 male
35
what are the characteristics of monosomy 21?
- small stature
- hypotonia
- cleft palate
- systolic murmur, ASD, VSD
- Death occurs in the first year
36
what is the karotype of monosomy 21?
45 (21)XX or XY
37
what is monosomy 21 also known as?
anti-downs syndrome
| anti-G syndrome
38
ewhat are the characteristics of turners syndrome?
- Horse shoe kidney
- unilateral renal agenesis
- lack of breast development
- infantile external genitalia
- chromatin negative
39
what is the characteristics of addition of 22?
-Cat-eye syndrome or Anal Atresia
-normal development
-inferior coloboma
-ASD
_Anal Atresia-recto-vestibular fistula
-recto-urethral fistula
40
the karotype of deletion of part 5
46(5P-)XX or XY
41
what is the karotype of addition of part 22?
46 (22Q+) XY or XX
42
what is deletion of part also known as?
cry of the cat syndrome
43
what are the characteristics of deletion of part 5?
- intellectual disability
- low birth weight
- high pitched cat like cry in infancy
- hypotonia
- microcephaly
- hypertelorism`
44
what are the maternal effects of varicella zoster?
- chicken pox
- shingles
- -follows a dermatome
- -rash,pain,itching
45
what are the fetal/newborn effects of varicella zoster?
viremia, can cause miscarriage/abortion
| -intrauterine growth retardation (IUGR)
46
what are the maternal effects of herpes?
- Vulvo-vaginitis
| - -open sores during outbreak
47
what are the fetal effects of herpes?
- fetal death
- skin eruptions
- respiratory/circulatory failure
- calcification of the brain
48
how many categories of hepatitis is there?
five or six
49
what are the maternal effects of hepatitis?
Hepatitis....
| bit fucking redundant
50
what are the fetal effects of hepatitis?
- fetal hepatitis
- spontaneous abortion
- prematurity
51
what are the maternal effects of rubella?
german measles
52
what are the fetal effects of rubella?
- congenital rubella syndrome
- deafness
- cataracts
53
what are the maternal effects of gnorrhea?
- genital tract infections
| - scar tissue can effect the uterine tubes
54
what are the fetal effects of gnorrhea?
- infection of the conjunctiva
| - silver nitrate or 20% AgNo3 solution appled to the eyes (old)---now antibiotic
55
what are the maternal effects of toxoplasma gondii?
-toxoplasmosis
-can be asymptomatic
-flu like symptoms
>80% of females of childbearing have an immunity to toxoplasma
56
what are the fetal effects of toxoplasma gondii?
- abortion
- growth and mental retardation
- cerebral calcification
57
what is a category A drug?
drugs for which studies have not shown a risk to the fetus
58
what is a category B
drugs with no human studies but animal studies have shown an effect on the fetus
59
what is a category c drug?
drug studies are inadequate in both animals and humans to show an effect to the fetus
60
what is category D drug?
drugs can definitely cause harm to the fetus but benefits the mother
61
what is a category X drug?
drugs that cause harm to the fetus with no benefit to the mother
62
what are the effects of heroin on the fetus?
-chromosomal damage
-cns damage
-respiratory depression
the critical period is third trimester
63
what are the effects of salicylate C,D?
- neonatal bleeding
| - hemorrhage
64
what is the critical period for salicylate C,D?
third trimester
| especially before birth
65
what are the effects of ethanol X?
-Fetal alcohol syndrome
-growth retardation
-cardiac murmurs
CRITICAL period
-last two trimesters
66
what are the effects of antibiotic on fetal development?
```
TETRACYCLINE D
-discoloration of teeth
-deafness
CRITICAL period
-second and third trimesters
```
67
effects of Anticonvulsant?
```
Phenobarbital D
-hemorrhage
-vertebral defects
CRITICAL periods
-all stages
```
68
effects of antidiabetic?
Insulin B
-Caudal regression syndrome
CRITICAL period
-first trimester
69
effects of anti-inflammatory
```
Corticones X
-Cleft palate
-skeletal defects
CRITICAL periods
-all stages
```
70
effects of depressants?
```
Thalidomine D/X
-Phocomelia
-tetralogy of fallout
-renal agenesis
CRITICAL period
-all stages
```
71
what are the effects of oral contraceptives X?
VACTERL association
72
what does VACTERL mean?
```
Vertebral defects
Anal Atresia
Cardiovascular anomalies
Tracheal-esophageal-fistula
Esophaeal atresia
Renal anomalies
Limb anomalies
```
73
describe vertebral anomalies?
small or hemivertebra
-only 1/2 of bone formed
70% have vertebral anomalies
74
describe Anal Atresia
surgery is required to reconstruct the intestine and anal canal
75
describe cardiovascular anomalies?
VSD
| ASD
76
describe Esophageal defects?
70% of patients
77
describe Renal?
50% incomplete formation of the kidneys
| 35% have single umbilical artery (should have two)
78
describe Limb defects?
70% absent or displaced thumbs
- polydactyly
- syndactyly
- forearm defects
79
describe Growth in relationship to VACTERL?
growth- low birth weight- difficut gaining weight
| normal mental development
80
effects of vitamin K (C)?
hyperbilrubinemia
| jaundice
81
effects of vitamin A (X)?
- cleft palate
| - eye damage
82
effects of caffeine B?
the equivalent of one and 1/2 cups of coffee daily increases the miscarriage risk by 80%
-this also includes soda with caffeine
83
effects of Nicotine D
IUGR- intrauterine growth retardation
- premature delivery
- decrease in the blood flow to the uterus
- decrease in oxygen-fetal hypoxia
84
units of measurement, what does RAD and REM mean?
RAD- Radiation Absorbed Dose
| REM- Roentgen equivalent of man
85
most standard X-ray and tests are below radiation dose of?
5,000 milli-REM
86
what are the radiation risks to fetus in the first trimester?
fetus most sensitive- can cause death
87
what are the radiation risks to fetus in the second trimester?
major organs most sensitive- malformations
88
what are the radiation risks to the fetus in third trimester?
cell population depleted-leukemia
