OB 2

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1

What is Acetylcholinesterase?

Breaks down acetylcholine into acetic acid and choline after synapse jump

2

How can Acetylcholinesterase be used in OB?

specific for detecting an open neuro tube defect

after 20 weeks it is perfered over AFP

3

What is the triple test?

15 weeks blood test used to detect Spina bifida, Trisomy 18 & 21

AFP

hCg

unconjugated esterol

4

What will AFP be with a closed neuro tube defect?

normal

5

What would the results of spina bifida be on a Triple Test?

elevated AFP

6

What would the results of Trisomy 18 be on a Triple Test?

AFP decreased

esterol decreased

hCg decreased

7

What would the results of Trisomy 21 be on a Triple Test?

hCg increased

AFP decreased

8

What are the pros and cons of the triple test?

increases detection rates for trisomy 21 to 60% from 35% for AFP alone

high false positives

9

At what time is AFP not used?

after 20 weeks

10

What is the Quadruple test?

improvement of the Triple test with inhibin A added

Inhibin A

AFP

hCg

unconjugated esterol

11

What would the results of Trisomy 21 be on a quadruple Test?

AFP decreased

hCg increased

Inhibin A increased.

12

What is PAPPA?

pregnancy associated plasma protein A

13

What happens to PAPPA during pregnancy?

PAPPA increases with increasing gestational age

14

What is PAPPA is low?

associated with anaploidy

15

What is anaploidy?

chromosomal abnormality

16

What is karyotyping?

isolating chromosomes and study them to look for anaploidy

17

How many chromosomes in each normal cell?

46

22 - mother

22 - father

2 sex

18

What is Marfans Syndrome?

problems at chromosome 15

19

When does Marfans Syndrome present?

32 years

20

What are the symptoms of Marfans?

dissecting aortic aneurysm

cardiovascular problems

mitral valve prolapse

long arms

long legs

21

What are Dominant disorders?

caused by a single defective gene

22

What are the chances of passing a dominant disorders on to a child?

50%

23

What is achondroplasia?

dominant disorder of abnormal bone growth

short stature

big head

normal intelligence and lifespan.

24

What is a recessive disorder?

caused by a pair of defective genes

25

What are the chances of passing a recessive disorders on to a child?

25%

26

What are some autosomal recessive disorders?

albinism

hemophilia

cystic fibrosis

hypothyroidism

Tay-Sachs disease

IPCKD

27

What is Tay-Sachs?

fat collects in nerves.

28

What are x linked disorders?

passed from mothers to sons

29

What are some examples of x linked disorders?

turner's syndrome

Triple X females

XYY male

XXY klinefelter

30

What is klinefelter's Syndrome?

Male is born with extra X

XXY

31

What is typical syndrome of a prisoner?

XYY

32

What is Turner's syndrome?

estrogen disorder

child born with only 1 X sex chromosome.

33

What is a phenotype?

multifactual condition

- interaction of one or more genes + enviroment

- how a gene is expressed

34

What is a mosaic?

gene mutation within cells

35

What is the amnio result of a mosaic?

46 XX

46 XY

mosaic is not a hermaphrodite

36

mosaic is not a hermaphrodite

hermaphrodite is always 46 XX

37

How many live births have chromosomal abnormalities?

1:180

38

Higher incidence of chromosomal abnormalities in ?

women over 36

abnorml AFP

elevated triple screen / quadruple screen

family history

39

What is Trisomy 13?

Platau Syndrome

40

What is Platau Syndrome?

Extra chromosome 13

fatal .... Most die in uteros

41

What is the Sonographic appearance of Platau Syndrome?

holoprosencephaly

agenesis of corpus callosum

Dandy walker

cleft lip/pallate

clenched fists

rocker bottom feet

congenital heart defects

42

What is holoprosencephaly?

1 brain hemisphere

look this up

43

What is rocker bottom feet?

prominent heels

rounded bottom (like rocker)

hammer toes

44

What is a genotype?

gene

45

What is Trisomy 18?

Edwards syndrome

46

What is Edwards Syndrome?

extra chromosome 18

fatal disease with a high risk of still birth

47

What is the average survival length of a baby with Edwards Syndrome after birth?

5 days

48

What is the sonographic appearance of Edwards Syndrome?

symmetric IUGR

choroid plexus cysts

Agenesis of corpus callosum

clenched hands

congestive heart disease

omphalocele

2 vessel cord.

club feet

all triple test low

49

How often does Edwards Syndrome occur?

1:3500 births

50

What is Trisomy 21?

Down's syndrome

51

What is down's syndrome?

an extra copy of chromosome 21

52

What is the sonographic appearance of Downs syndrome?

nuchal fold greater than 3

hCg elevated

AFP low

PAPPA low

cystic hygroma

ventriculomegaly

macroglossia

ceongenital heart disease

VSD, ASD, AVSD

short femur

53

What is Triploidy?

double fertilization

54

What if PAPPA is low?

associated with anaploidy

55

What is the common intrauterine findings of maternal derived triploidy?

IUGR

severe oligohydramnios

56

What is a maternal derived triploidy ?

1 sperm (2 XX in egg)

Complete mole

57

What is a paternal derived triploidy?

1 egg - 2 sperm normally

Partial Mole

spontaneous abortion or well grown baby

58

How common is the maternal derived compared to the paternal derived?

Maternal Triploidy - 10%

Paternal Triploidy - 90%

59

What is the common intrauterine findings of paternal derived triploidy?

large placentia

multiple cystic spaces resembling a molar pregnancy

60

What is Turner Syndrome?

X linked syndrome where an X or Y chromosome is missing.

Always female

61

What is the the functional problem with Turner syndrome?

Pituitary fails to produce FSH so ovaries do not develop.

Females fail to produce estrogen and progesterone.

Sterile.

62

What is the path of female sex hormones?

  • Thalamus releases GnRH to the pituitary
  • Pituitary releases
    • FSH - control the menstrual cycle and the production of eggs by the ovaries
    • LH - triggers ovulation and development of the corpus luteum
63

What is the most common finding in a fetus with Turner syndrome?

cystic hygroma

frequently with hydrops and cardiac defects

64

What are the possible anomalies associated with Turner syndrome?

Horseshoe kidneys

hydronephrosis

absent kidneys

65

What physical findings in a patient with turner syndrome?

immature sexual development

amenorrhea

poorly developed breasts

widely spaced nipples

short stature

poor motor skills

hearing impaired

neck webbing

66

The risk of Trisomy _________________ with age.

The risk of Trisomy increases with age.

67

What is the most common trisomy?

Trisomy 21 - downs syndrome

Trisomy 18 - Edwards syndrome

Trisomy 13 - Patau syndrome

68

What are the indications for a Level 2 ultrasound?

Family History

suspected anomaly

chromosomal abnormality detected

Abnormal AFP

polyhydramnios

olighydramnios

non-immune hydrops

teratogenic exposure

69

What is a teratogen?

an agent or factor that causes malformation of an embryo

70

What is the distinction between single vs multiple teratology?

any single abnormality increases the risk for multiple anomalies

71

What is the distinction between major vs minor teratology?

major requires surgical repair

minor anomalies interfere with normal function

72

About how many anomalies are found during ultrasound?

50%

73

What is the occurrence of anomalies from teratogens depend on?

date of exposure

74

If a mother comes in contact with a teratogen during the pre-embryonic period (3-4 weeks) what is the most likely outcome?

death

75

If a mother comes in contact with a teratogen during the embryonic period (5-11 weeks) what is the most likely outcome?

major organ abnormalities

due to organogenesis

76

If a mother comes in contact with a teratogen during the fetal period (12+ weeks) what is the most likely outcome?

minor or tissue effects

77

What creates the amniotic fluid during early gestation?

amniotic membrane

chorion frondosum

78

What creates the amniotic fluid 5+ weeks gestation?

membranes

umbilical cord

skin

lungs

kidneys

79

When does a fetus start to swallow?

8 - 11 weeks

80

When do the kidneys start to function?

16 weeks

81

When do kidneys produce majority of amniotic fluid?

17 weeks

82

When do kidneys produce almost all of amniotic fluid?

20 weeks

83

What is the function of the amniotic fluid?

shock absorber

allows fetal movement

prevents fetal adherence to amnion

allows for symmetric growth

temperature control

84

What is necessary for normal lung development?

amniotic fluid

85

What problems can occur with the lungs with olighydramnios?

pulmonary hyperplasia

86

What is the AFI with olighydramnios?

- <5cm of fluid

87

What is the AFI with borderline olighydramnios?

- 5 cm to 8 cm

88

What is normal AFI?

8 cm to 22 cm

89

What is AFI with polyhydramnios?

> 22 cm

90

What can abnormal AFI be a marker for?

trisomy 13 - olig

91

What can cause polyhydramnios?

anything that interferes with swallowing & urination

- esophageal atresia

92

What happens to the AFI in the 3rd trimeter?

decreases

93

What is a normal 1 quadrant measurement for AFI?

2 - 8 cm

94

What are the features and complications of oligohydramnios?

  • D: demise
  • R: renal abnormalities (agenesis)
  • I: IUGR
  • P: premature rupture of membranes
  • P: post dates
  • C: chromosomal anomalies
95

What are the features and complications of polyhydramnios?

Disorders that decrease swallowing

  • M: menigomyelocele
  • O: omphalocele
  • T: twin to twin
  • H: hydrocephaly
  • E: erythroblastoma
  • R: retroperitoneal fibrosis
  • S: sacrococcygeal teratoma
  • H: hydrops fatalis
  • O: obstructive GI anomalies
  • U: urethral stenosis
  • S: spina bifida
  • E: esophageal atresia
96

What are 60% of polyhydramnios related to?

idiopathic

97

What is idiopathic?

???????????????????????????

98

What is Synechiae?

amniotic sheets

99

What are amniotic sheets?

insult to uterine lining

scar tissue in uterine lining

Benign

100

What is the danger of amniotic sheets

scary looking

Benign

May cause early labor

101

When does the amnion join the chorion?

10 weeks

102

What is Amniotic band syndrome?

bands within the amniotic fluid adhere to the fetus and amputate portions of limbs..

103

What is the most severe form of amniotic band syndrome cause?

limb/body wall complex

104

What is limb/body wall complex called?

cyllosomia

105

What is cyllosomia?

limb/body wall complex

lethal

cuts body in half

106

Cranial abnormalities are usually __________ to the fetus.

Cranial abnormalities are usually devastating to the fetus.

107

Where are the incidence of anencephaly higher?

United kingdom

108

What is the statistic of anencephaly between boys and girls?

girls 4:1

109

What can prevent anencephaly?

4 mcg folic acid daily

110

Explain open vs closed neuro tube defect?

closed neurotube defects the brain and spinal cord are not in contact with the amniotic fluid

111

What will AFI be with a closed neuro tube defect?

normal

112

How is a closed neuro tube defect seen?

dimple

lypoma

tethered cord

113

What is anacephaly?

failure of closure of neurotube at cephalic end.

most common neuro tube defect

incompatible with life

114

What is the sonographic appearance of anacephaly?

absence of brain and cranial vault

bulging orbits

Frog-like

115

What is encephaly?

variant of anencephaly in which some cortical brain remains

116

What is acrania?

absence of the cranial bones with the presence of complete (abnormal) development of brain

117

What can acrania appear as?

anencephaly

brain swells but can dissolve

118

What is Grober Syndrome?

encephalocele

polydactyly

polycystic kidneys

119

What is a Cephalocele?

NTD in which the meninges or the meninges and brain herniate through the skull.

120

Where does cephalocele usually occur?

midline

75% - occipital

121

What does prognosis of a cephalocele depend on?

size

location

tissue involvement

122

What is an encephalocele?

cephalocele involving meninges and brain

123

What is a cranial meningocele

cephalocele involving meninges only

124

What is the sonographic appearance of a cephalocele?

extracranial mass

bony defect

ventriculomegaly

125

What is spina bifida occult?

closed neuro tube defect

126

What is spina bifida cystica?

open neuro tube defect

127

What is spinal bifida?

2nd most common NTD

opening in the spine

128

What is the presentation of spina bifida?

meningocele

meningomyelcele

rachischisis

cisterna magna gone

banana shaped cerebellum

lemon shaped head - none specific

V or U shaped splaying of spine

129

What is rachischisis?

failure of fusion of vertebral arches and neural tube with consequent exposure of neural tissue at the surface; spinabifida cystica with myelocele or myeloschisis.

130

What is Arnold Chari malformation?

cord tethering that pulls cerebellum into the upper cervical spine

131

What is the sonographic appearance of Arnold Chari malformation?

banana shaped cerebellum 99%

spina bifida cystica

132

What is Dandy Walker Malformation?

dilation of 4th ventricle

4 to 6 weeks gestation

133

What is the sonographic appearance of Dandy Walker Malformation?

enlarged cisterna magna (>10 alarming)

vermis of cerebellum abnormal

134

What is Dandy Walker Malformation associated with?

50 - 70% other abnormalities

subnormal inteligence

135

What is holoprosencephaly?

intracranial anomaly in which a horse-shoe shaped ventricle replaces two lateral ventricles

Usually fatal!!!!!!!!!!!!!!!!!

136

What is holoprosencephaly associated with?

trisomy 13

facial defects

* clefts

* hypotelorism

* cyclopia

* proboscis

137

What is lobar holoprosencephaly?

mild holoprosencephaly

138

What is semi-lobar holoprosencephaly?

med holoprosencephaly

139

What is alobar holoprosencephaly?

severe

140

What is the sonographic appearance of lobar holoprosencephaly?

mild

small channel of communication between lateral ventricles

141

What is the sonographic appearance of semi-lobar holoprosencephaly?

med

large channel of communication between lateral ventricles

142

What is the sonographic appearance of alobar holoprosencephaly?

severe

1 lateral ventricle

143

How is a closed neuro tube defect seen?

dimple

lyphoma

tethered cord

144

What is the corpus callosum?

connecting nerve fibers

genu to slenum

145

When does corpus callosum develop?

12- 18 weeks

146

How many babies with ventriulomegaly will have normal intelligence?

50%

147

What is ventriulomegaly?

marked dilation of the cerebral ventricles

148

What does ventriulomegaly imply?

ventricular obstruction

* pay close attention to spine

149

What is ventriulomegaly usually accompanied with?

dangling choroid plexus

150

What is the most common cause of ventriulomegaly?

aqueductal stenosis

151

What is aqueductal stenosis?

a form of ventriulomegaly resulting in narrowing of the aqueduct of sylvius.

152

What is the sonographic appearance aqueductal stenosis?

symmetrical dilation of ventricles with intact fissure

dilated 3rd ventricle

dilated aqueduct

153

What is a vein of Galen aneurysm?

large arteriovenous fistula seen as a sizeable cyst in the posterior aspect of the brain above the tentorium

154

What is the vein of galen?

drains lower mid portion of cranium

155

What is the sonographic appearance of vein of Galen aneurysm?

color lights up with turbulent flow

156

What is associated with a vein of Galen aneurysm?

congenital heart defect

hydrops

cystic hygroma

157

What is hydranencephaly?

absense of cortical brain due to obstruction of ICA

no blood flow so brain does not develop.

158

What replaces brain tissue with hydrancephaly?

CSF

159

What causes hydrancephaly?

vascular accident

toxoplasmosis

cytomegalovirus

160

What is toxoplasmosis?

one of the world's most common parasite causing flu-like symptoms

Kitty litter

161

What is cytomegalovirus?

a common virus that can infect almost anyone. Most people don't know they have CMV because it rarely causes symptoms

162

What is the sonographic appearance of hydrancephaly?

looks like big ass cyst

portions of midbrain and brain stem are present

163

What is microcephaly?

unduly small skull and brain

part of the brain herniates out of cranial cavity

164

What is microcephaly asscoiated with?

mental deficiencies

heroin addicts

encephaloceles

165

What is a teratoma?

congenital tumor caused by different types of tissue

grows aggressively

166

What are the 3 types of tissues that teratomas grow from?

  • germ cell layers
    • ectoderm
    • endoderm
    • mesoderm
167

Where do teratomas usually occur?

around sacrum and coccyx

168

What is another name for nuchal fold?

nuchal fat pad

169

What is the measurement of the nuchal fold in babies with downs?

< 5 mm

170

What is a nuchal translucency?

is a finding during a specific period in the late first trimester and early second trimester (11.3-13.6 weeks) and should not be confused with nuchal thickness which is measured in the second trimester.

< 3 mm considered normal

171

What is a TORCH?

  • virus that crosses placenta
    • T: toxoplasmosis
    • O: other
    • R: rubella
    • C: cytomegalovirus
    • H: herpes
172

What is a porencephalic cyst?

cysts filled with CSF that communicates with the ventricular system

adjacent to ventricles

173

What is another name for porencephalic cyst?

porencephaly

174

What can cause porencephalic cysts?

hemorhage

difficult delivery

175

What happens to the parenchyma with porencephaly?

undergoes necrosis and cystic lesion remains

176

What is Schizencephaly?

rare

clefts in the cerebral cortex

177

What is the sonographic appearance of Schizencephaly?

fluid filled unilateral / bilateral clefts

178

What is Schizencephaly associated with?

absence of septum pellucidum and corpus callosum

179

What are arachnoid cysts?

fluid collection that occurs within the layers of the arachnoid layer

180

What is the sonographic appearance of arachnoid cysts?

rounded fluid collection in cranium

181

What is arachnoid cysts associated with?

agenesis of the corpus callosum

182

What is a choroid plexus cyst?

cyst within the lateral ventricles

183

What can a choroid plexus cyst be associated with?

trisomy 18 (edwards)


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