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OBSTETRICS > 1M - Prenatal Diagnosis, Fetal Disorders and Fetal Therapy > Flashcards

1M - Prenatal Diagnosis, Fetal Disorders and Fetal Therapy Flashcards

1
Q

This is the science of identifying structural or functional abnormalities in developing fetus

A

Prenatal Diagnosis

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2
Q

What are the three major categories of diagnostic evaluation in prenatal diagnosis?

A

Fetus at high risk of genetic or congenital disorder
Fetus at unknown risk from common congenital abnormalities
Fetus ultrasonographically discovered to have structural or developmental abnormalities

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3
Q

Most common cause of congenital defect?

A

Aneuploidy

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4
Q

Most common etiology of birth defect which happens during development? site an example

Malformation
Deformation
Disruption

A

Malformation

Ex: Spina Bifida

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5
Q

Etiology of birth defect caused by mechanical forces which results in abnormal fetus development? Site example

A

Deformation

EX: Contractures caused by oligohydramnios

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6
Q

Etiology of birth defect which happens when genetically normal tissue is modified as the result of specific insult? Site an example

A

Disruption

Ex: Damage from an amniotic band causing cephalocele or limb reduction abnormality

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7
Q

Cluster of several abnormalities or defects? All abnormalities have the same cause. Site an example?

A

Syndrome

Trisomy 18

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8
Q

All anomalies is caused by one specific insult? Site an example?

A

Sequence

Oligohydramnios leading to pulmonary hypoplasia, limb contractures and facial deformities

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9
Q

Particular anomalies occur together frequently but do not seem to be linked etiologically? Site an example

A

Association

VATER - Vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia and radial dysplasia

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10
Q

Give two screenings for aneuploidy that every pregnant women should be offered?

A

Traditional or analyte based and Cell Free DNA testing

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11
Q

what are two maternal serum used as analytes in aneuploidy testing?

A

HCG and PAPP-A

used together with sonographic measurement for nuchal translucency

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12
Q

If tested positive for Down Syndrome during the first trimester, what will be the findings in HCG and PAPPA level?

A

HCG is higher and PAPPA is lower

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13
Q

If tested positive for Trisomy 18 and Trisomy 13, what will be the finding in HCG and PAPPA level?

A

Levels of both analytes are lower

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14
Q

What is the CRL length necessary before measuring nuchal translucency? And what measurement is associated with birth defects, increase or decrease?

A

38-45 and 84mm

an increase is associated with higher risk of birth defects. A measurement of 3 mm or more should receive counseling

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15
Q

What are the serum markers for Fetal Down Syndrome during the second trimester?

A

Lower maternal serum AFP, Lower unconjugated estriol, Higher HCG, higher dimeric inhibin levels

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16
Q

Second most common malformations?

A

Neural Tube defects

most common is cardiac defects

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17
Q

What test are given for women at risk of neural tube defects?

A

AFP testing and targeted US

Amniocentesis and Karyotyping is performed for confirmatory test

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18
Q

What is the most common risk factor for neural tube defects?

A

Family history

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19
Q

Major serum protein in embryo-fetus analogous to

albumin which is produced first by the fetal yolk and later by the liver and GI tract?

A

AFP

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20
Q

Describe the behavior of AFP in fetal serum and amniotic fluid vs maternal serum?

A

It steadily increases in fetal serum and amniotic fluid until 13 weeks, in which it decreases thereafter. It steadily increases in maternal serum after 12 weeks

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21
Q

When is AFP screening offered according to ACOG?

A

at second trimester at 15-20 weeks

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22
Q

Level of AFP in MoM to detect neural tube defect?

A

higher than 2.5 MoM

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23
Q

Level of maternal serum estriol level to detect Smith Lemli Opitz syndrome and steroid sulfatase deficiency??

A

higher than 0.25 MoM

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24
Q

This is characterized by facial malformations with mental and behavioral abnormalities associated with high estriol levels?

A

Smith Lemli Opitz Syndrome

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25
Q

This is also known as C linked ichthyosis?

A

Steroid sulfatase deficiency

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26
Q

This combines results of first and second trimester screening?

A

Integrated screening

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27
Q

When are quadruple markers done?

A

15-21 weeks

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28
Q

This screening strategy involves performing the first trimester screening and informing the patients of the results

A

Sequential screening

If positive, a diagnostic test is done

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29
Q

This screening strategy is made by identifying DNA fragments that are derived primarily from apoptotic trophoblasts, which are placental cells undergoing programmed cell death.

A

Cell free DNA screening

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30
Q

When can cell free DNA screening be made?

A

After 9-10 weeks

not gestational age dependent

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31
Q

If cell-free DNA screening is performed as a secondary screen following a positive first- or second-trimester
analyte-based test result, a normal result is not quite as reassuring. T or F?

A

True

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32
Q

What measurement of nuchal skinfold is non assuring?

A

More than 6 mm

tenfold risk for Down Syndrome

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33
Q

Echogenic intracardiac focus is usually right sided or left sided?

A

Left

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34
Q

Bilateral echogenic foci is associated with what genetic defect?

A

Trisomy 13 (Ptau Syndrome)

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35
Q

What measurement of mild pelvis renal dilatation can approximately double the risk of down syndrome?

A

4 mm

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36
Q

A bright echogenic fetal bowel increases the risk by 2 fold of what genetic defect?

A

Down syndrome

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37
Q

Couples planning to have a pregnancy with third degree couples should be advised to screen for CF? T or F

A

False

up to second degree relative and only those couples who are both caucasian

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38
Q

What mutation causes cystic fibrosis?

A

Mutation of CFTR gene at the long arm of chromosome 7

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39
Q

Classic cystic fibrosis presents as?

A 
abnormal chloride levels in sweat
chronic pulmonary disease
pancreatic insufficiency
liver disease 
obstructive asooospermia
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40
Q

Most common cause of familial mental retardation?

A

Fragile X syndrome

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41
Q

Fragile X syndrome is what kind of genetic defect?

A

X linked

only boys can acquire it

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42
Q

Autosomal recessive lysosomal-storage disease is characterized by absence of the hexosaminidase A
enzyme

A

Tay Sachs disease

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43
Q

Most common prenatal diagnostic procedure?

A

2nd trimester amniocentesis

One at 14-20 weeks

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44
Q

The first 1-2 ml of aspirate from amniocentesis is not used to amniocentesis but can be used for what test?

A

AFP testing

Needle used in amniocentesis is 20-22 gauge

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45
Q

Early amniocentesis is associated with procedure related pregnancy loss? true or false?

A

True

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46
Q

When do we do chorionic villus sampling?

A

10-13 weeks

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47
Q

This prenatal diagnostic procedure is used to assess for analysis of non immune hydrops?

A

Percutaneous umbilical cord blood sampling or fetal blood sampling or cordocentesis

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48
Q

What diagnostic procedure is done to check for anemia?

A

Fetal cerebral artery velocimetry

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49
Q

Arterial procedure is preferred in cordocentesis?

A

False because of risk of vasospasm and fetal bradycardia

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50
Q

This procedure allows diagnosis of few hereditary and genetic disorders prior to implantation

A

Preimplantation genetic diagnosis

blastomere biopsy through a hole made in zona pellucida

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51
Q

What are the most common causes of fetal anemia?

A

Red cell alloimmunization - erythroblastosis fetalis or hemolytic disease of the newborn
congenital infections - parvovirus b19
thalassemia
fetomaternal hemorrhage

52
Q

What is the treatment for severe fetal anemia?

A

Antenatal fetal transfusion

○ Anti-D
○ Anti-Kell
○ Anti-c
○ Anti-E alloimmunization

53
Q

How is alloimmunization detected?

A

Indirect Coombs test

54
Q

What are the critical titer ranges for indirect coombs test?

A

1:8 to 1:32

○ If the critical titer for anti-D antibodies is 1:16
- severe hemolytic disease
■ Except for Kell sensitization

55
Q

Most common alloimmunization?

A

Anti E alloimunization

56
Q

Which alloimmunization has a greater need for fetal or neonatal transfusion?

A

Anti-C alloimmunization

57
Q

When a d negative female is exposed to maternal d positive red cells and produces anti d antibodies that may affect the her fetus during pregnancy, what is this phenomenon called?

A

Grandmother effect

58
Q

Most frequent minor antigen?

A

Kell antigen

59
Q

Critical titer for kell sensitization?

A

1:8

60
Q

Most common cause of hemolytic disease in the newborn which causes hyperbilirubinemia?

A

ABO blood group incompatibility

61
Q

Treatment for ABO blood group incompatibilty?

A

Phototherapy and transfusion

62
Q

ABO incompatibility is more commonly seen in pregnancies after the first one? T or F

A

False

it is more commonly seen during the first

63
Q

Pregnancy at risk of alloimmunization but below the titer value should be assessed every when during the pregnancy?

A

Every 4 weeks

64
Q

When being tested for fetal anemia, if the middle cerebral doppler velocity is more than 1.5 MoM the AOG is most probably?

A

Less than 34 - 35 weeks

Fetal blood sampling should be considered

65
Q

What prenatal diagnostic procedure measures the amount of bilirubin concentration?

A

Amniotic fluid spectral analysis

bilirubin is usually high during mid pregnancy

middle cerebral velocimetry is more accurate

66
Q

What strongly influences the management of severe fetal anemia?

A

Gestational age

67
Q

Where should intravascular transfusion be made for fetal anemia?

A

Umbilical vein

68
Q

for severe, early-onset hemolytic disease in

the early 2nd trimester, where should transfusion be done?

A

fetal peritoneal cavity

69
Q

For those with fetal hydrops, where should transfusion take place?

A

fetal peritoneal cavity and umbilical vein

70
Q

What level of hematocrit is transfusion indicated?

A

30%

71
Q

What is the target hematocrit for non hydropic fetus?

A

40 - 50%

72
Q

How do we compute for the volume to be transfused?

A

estimated fetal weight in grams by 0.02 for each 10% rise needed for the hematocrit

73
Q

In severely anemic fetus at 18-24 weeks, how is does transfusion take place?

A

Less initially and then another one after 2 days and more every 2 to 4 weeks

74
Q

MCA peak systolic velocity threshold for severe

anemia following an initial transfusion is

A

1.70 MoM

75
Q

After transfusion, hematocrit drops by how many percent per day?

A

1%

and more rapid if with hydrops

76
Q

To prevent anti d alloimmunization, what is the management?

A

Post partum administration of anti d immune globulin to at risk pregnancies within 72 hours of delivery

Anti D Ig is given at the third trimester and after delivery for rh - unsensitized women

77
Q

Dose of anti d Ig given IM?

A

300 to 1500 IU

78
Q

Qualitative test for anti d antigen?

A

Rosette test

79
Q

If there is sufficient dose of anti d Ig given, what would be the result in indirect coombs test?

A

Positive

80
Q

molecular weak d phenotype of d variant is treated how?

A

managed as d positive

no risk of alloimmunization and Ig is not needed

81
Q

Those with partial D antigens are treated how?

A

Treated with anti D Ig due to risk of D - alloimmunization

82
Q

What is the most commo presenting complaint in the presence of fetomaternal hemorrhage?

A

Decreased fetal movement

83
Q

This fetal heart pattern warrants immediate evaluation?

A

sinusoidal

84
Q

This is the most commonly used quantitative test for fetal red cells?

A

Kelihauer - Betke test or acid elution test

limitations include those with B thalassemia and those near term who have started to produce Hgb A

85
Q

What is the fetoplacental blood volume at term?

A

125 ml/kg

86
Q

A more accurate method of quantitative testing for fetal red cells than KB test is?

A

Flow cytometry

87
Q

Most common cause of thrombocytopenia among newborns?

A

Alloimmune thrombocytopenia

HPA 1A - 80 - 90%

88
Q

What is the platelet count of a woman whose child has alloimmune thrombocytopenia?

A

normal

89
Q

What is the treatment for alloimmune thromobocytopenia?

A

IV Ig and prednisone

90
Q

An autoimmune disorder in which antiplatelet IgG antibodies attack platelet glycoproteins of the fetus?

A

Immune thrombocytopenia or Idiopathic thrombocytopenia

91
Q

This condition is caused by an excessive accumulation of serous fluid in the fetus?

A

Hydrops fetalis

92
Q

Diagnostic findings of hydrops fetalis sonogrpahically?

A

more than 2 effusions (pelural, cardiac or ascites) or 1 effusion plus anasarca or whole body edema

Skin thickness of more than 5 mm
placentomegaly - 4 cm in 2nd trimester and 6 cm in 3rd trimester
hydramnios

93
Q

Immune hydrops is caused by?

A

Red cell alloimmunization

Hgb values of less than 5g/dL

94
Q

What is more common, immune hydrops or non immune hydrops?

A

Non immune hydrops

95
Q

A form of aneuploidy which commonly cause non immune hydrops?

A

Turner Syndrome 45,XO

96
Q

If isolated ascites is found, what may be the most probable cause of hydrops?

A

Parvovirus B19 or meconium peritonitis

97
Q

If isolated edema is found in the upper torso or the dorsum of the hands and feet, what may be the most probable cause of hydrops?

A

Turner syndrome or Noonan syndrome or congenital lymphedema syndrome

98
Q

This is also called Triple Edema? The fetus, mother and placenta are all edematous

A

Mirror Syndrome

associated with hydrops and severe preeclampsia

indicated prompt delivery

99
Q

What is tachyarrhythmia foe the fetus?

A

more than 180 bpm

100
Q

What is bradyarrhythmia for the fetus?

A

Less than 110 bpm

101
Q

What do you call premature atrial contractions?

A

Ectopy

102
Q

Treatment for arryhtmias?

A

Antiarrhythmic agents

103
Q

Most common form of tachyarrhythmias?

A

SVT and atrial flutter

104
Q

ST is characterized by an abrupt increase in fetal heart rate to

A

180-300 bpm with a typical range of 200-240

105
Q

ST if untreated may further develop into?

A

reentrant tachycardia

106
Q

What is the most common etiology of fetal bradyarrhyhtmia?

A

Congenital heart block

107
Q

What treatment is given to fetus with sustained bradyarrhythmia?

A

maternal terbutaline

108
Q

What sound does premature atrial contractions form?

A

Dropped beats

109
Q

This is the most common fetal arrhythmia?

A

Premature atrial contractions

110
Q

Most common etiology of androgen excess in

females with 46, X disorders of sex development

A

Congenital adrenal hyperplasia

111
Q

What is the prenatal treatment for congenital adrenal hyerplasia?

A

Corticosteroid

oral dexamethasone given to the mother at a dosage of
20 mg/kg/d up to 1.5mg per day, three divided doses

112
Q

What age of gestation is the critical period for genital development? and when should corticosteroid therapy start to prevent virilization?

A

7-12 weeks

9 weeks

113
Q

Sonographically, this malformation is a well
circumscribed lung mass that may appear solid and
echogenic or may have one or multiple variably sized
cysts

A

Congenital cystic adenomatoid malformation

114
Q

When can a Congenital cystic adenomatoid malformation lesion be considered as macrocystic?

A

More than 5 mm

115
Q

Treatment for congenital cystic adenomatoid malformation?

A

dexamethasone-6.25 mg every 12
hours for four doses, or betamethasone- 12.5 mg
intramuscularly every 24 hours for two doses

116
Q

What is the preferred test for fetal thyroid diseases to help guide treatment?

A

Fetal blood sampling

117
Q

Thyroid disease if it manifests as a goiter and compresses the trachea and esophagus, can cause?

A

severe fetal hydramnios and neonatal airway compromise, also shoulder dystocia due to hyperextension of the neck

118
Q

A pregnant woman with maternal Grave’s disease can cause what condition to the fetus?

A

Fetal thyrotoxicosis

119
Q

A pregnant woman in medication for Grave’s disease can cause what condition to the fetus?

A

fetal hypothyroidisim

120
Q

Discontinuation of thyroid medications is recommended during pregnancy? True or false?

A

True

121
Q

When undergoing open fetal surgery, what procedure must the mother undergo to suppress both uterine contractions and fetal responses?

A

GETA

122
Q

Fetal surgery is thoracic masses are usually treated with corticosteroids and surgery is only reserved for fetus with hydrops during what age of gestation?

A

32 weeks

123
Q

Sonographically, it is a solid and/or cystic mass that arises from the anterior sacrum

A

Sacrococcygeal teratoma

124
Q

Fetoscopic surgery is done to monochorionic diamniotic twin with stage 2 to stage 4 twin twin transfusion syndrome. What weeks of gestation is it usually done?

A

16-26 weeks

125
Q

In congenital diaphragmatic hernia, what is the lung to head ration that confers no survival if present?

A

less than 0.6

Measurement of the right lung area, taken at the level
of four-chamber view of the heart, divided by the head
circumference

OBSTETRICS (36 decks)

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