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obstetrics > Antenatal Care: Aneuploidy, Teratogens > Flashcards

Antenatal Care: Aneuploidy, Teratogens Flashcards

1
Q

Who is responsible for antenatal care

A

Midwives

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2
Q

When are obstetricians involved

A

High-risk pregnancies

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3
Q

When is booking appointment

A

12W

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4
Q

How many appointments will an uncomplicated nulliparous women recieve

A

10 appointments

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5
Q

When is the early US scan done

A

11-13+6

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6
Q

When is structural anomaly scan performed

A

18-20+6

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7
Q

When is first-dose anti-D prophylaxis started for rhesus negative women

A

28W

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8
Q

When is second-dose anti-D prophylaxis started for rhesus negative women

A

34W

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9
Q

When is gestational diabetes screened for

A
  • Booking if previous GDM

- 24-28W if at-risk

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10
Q

What indicates screening for GDM

A
  • First-degree relative diabetes
  • Asian
  • Macrosomic baby
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11
Q

If a women had GDM in a previous pregnancy, when should OGTT be performed

A

16 and 28W

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12
Q

What is a pregnant women eligible for

A

Healthy start multivitamin

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13
Q

What does a healthy start multivitamin contain

A

Vitamin C
Vitamin D
Folic acid

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14
Q

When is folic acid given

A

Pre-conception to 12W

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15
Q

Why is folic acid given

A

Prevent NTD

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16
Q

When is 5mg folic acid given

A 
Anti-epileptics 
Child with NTD
Diabetes 
BMI >30 
HIV
Co-trimoxazole
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17
Q

When is nuchal translucency looked for

A

11-13+6

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18
Q

What are 3 conditions where nuchal translucency may be increased

A
  1. Down syndrome
  2. Congenital heart defect
  3. Abdominal wall defect
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19
Q

What are 3 conditions that may cause hyperechogenic bowel

A
  1. Cystic fibrosis
  2. Downs syndrome
  3. CMV
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20
Q

What is seen on anomaly scan

A

Look at each structure independently

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21
Q

What is Down’s syndrome also known as

A

Trisomy-21

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22
Q

What is the most common aneuploidy

A

Trisomy-21

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23
Q

What genetic defect is in 95% of trisomy-21

A

Non-Dysfunction

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24
Q

What is non dysjunction

A

When two homologous chromosomes fail to separate in downs syndrome

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25
Q

What are two other genetic defects possible in trisomy 21

A

Robertsonian

Mosaicism

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26
Q

What % is due to balanced robertsonian translocation

A

5

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27
Q

What balanced translocation happens in D2

A

Long-arm chromosome 14, joins long-arm chromosome 21

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28
Q

What is mosaicism

A

two genetically different populations

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29
Q

What is risk Down syndrome in under 25’s

A

1:1500

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30
Q

What is risk Downs syndrome in 30

A

1:900

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31
Q

What is risk Down syndrome in 35

A

1:400

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32
Q

What is risk in Down syndrome in 40

A

1:100

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33
Q

What is risk in Down syndrome in over 45

A

1:30

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34
Q

What differences can be seen in the eyes of DS child

A

Large palpabrae fissures

Brushfield spots

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35
Q

What are brush field spots

A

Grey-brown discolouration of the iris

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36
Q

What is an oral feature of downs syndrome

A

Small mouth

High-arch palate

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37
Q

What is a nasal feature of downs syndrome

A

Flat broad nasal bridge

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38
Q

How do the ears appear in downs syndrome

A

Small, round, low-set ears

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39
Q

What can be seen on hands of downs syndrome child

A

Single transverse palmar crease

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40
Q

What can be seen in feet of someone with downs syndrome

A

Large sandal gap

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41
Q

What is a sandal gap

A

Large gap between big and second toe

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42
Q

What heart defects are seen in DS

A

AVSD (40%)
VSD (30%
ASD (10%)

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43
Q

What bowel defects are seen in DS

A

Duodenal atresia

Hirschsprungs

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44
Q

What haematological defect is seen in DS

A

ALL

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45
Q

What neurological deficits are seen in DS

A

Epilepsy

Early-onset alzheimer’s disease

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46
Q

What motor features are seen in trisomy 21

A

Hypotonia

Delayed motor development

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47
Q

What MSK features are seen in trisomy 21

A

Short-stature

Obesity

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48
Q

What cognitive features are seen in DS

A

Intellectual disability

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49
Q

What are all women in the UK offered

A

Screening DS with combined test

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50
Q

When are women screened for DS

A

11-13+6

51
Q

What is used to screen for DS

A

Combined test

52
Q

When can quadruple or triple test be offered to screen for DS

A

15-20W

53
Q

What are the 4 components of the combined screening test

A
  1. Maternal Age
  2. Nuchal translucency
  3. bHCG
  4. PAPP-A
54
Q

When is quadruple test performed

A

16W

55
Q

What is PAPP-A

A

Produced by placenta

56
Q

What do low levels of PAPP-A indicate

A

Low levels indicate poor placentation - associated with trisomy. (Also low in smokers)

57
Q

What are two types of non-invasive pre-natal testing

A

SAFE

IONA

58
Q

How does the SAFE and IONA test work

A

Looks for foetal blood cells in circulation

59
Q

What is the problem with non-invasive pre-natal testing

A

Still considered screening test, women will require diagnostic testing

60
Q

What is a ‘high-risk’ result

A

Less than 1 in 150 risk DS

61
Q

What is offered to women with ‘high-risk’ result

A

Diagnostic testing

62
Q

When can chorionic villus sampling be performed

A

10-13W

63
Q

Explain CVS

A

Needle inserted trans-abdominally to take sample from placenta

64
Q

How long does karyotyping for CVS take

A

2d

65
Q

How long does enzyme analysis for CVS take

A

3W

66
Q

What is the main advantage of CVS

A

due to being earlier than amniocentesis - means termination happen earlier

67
Q

What is % miscarriage with CVS

A

2%

68
Q

What is an additional problem with CVS

A

mosacism - cells of placenta may be different

69
Q

When is amniocentesis offered

A

> 16W

70
Q

What is amniocentesis

A

needle inserted trans-abdominally and cells of amniotic fluid taken

71
Q

What is % miscarriage in amniocentesis

A

1%

72
Q

How long does karyotyping take in amniocentesis

A

3W

73
Q

How long does PCR take in amniocentesis

A

3d

74
Q

What is life expectancy of downs syndrome

A

55 years

75
Q

What is Edwards Syndrome also known as

A

Trisomy 18

76
Q

What causes Edward’s syndrome

A

Non-Dysfunction

77
Q

What is a risk factor for Edward’s syndrome

A

Maternal Age

78
Q

What are the presenting features of Edward’s syndrome

A

Micrognathia
Cleft palate
Low-set round ears

Rockerbottom feet

VSD

79
Q

What is the prognosis of edward’s syndrome

A

1-year

80
Q

Define patau’s syndrome

A

Trisomy-13

81
Q

What causes patau’s syndrome

A

Non-dysjunction

82
Q

What is a typical feature of patau’s syndrome

A

Holoprosencephaly

83
Q

What is holoprosencephaly

A

Where the forebrain of both hemispheres fails to seperate

84
Q

What are other features of patau’s syndrome

A

Cleft palate
Polydactyl
Exomphalos

85
Q

What is the prognosis of patau’s syndrome

A

Die shortly after birth

86
Q

What is the genetics in Turner’s syndrome

A

45XO

87
Q

What causes Tuner’s syndrome

A

Absence X chromosome in females

88
Q

What are 4 features of turner’s syndrome

A

Short-stature
Webbed neck
Streak ovaries
Coarctation aorta

89
Q

What is Kleinfelter syndrome

A

47XXY

90
Q

What are 5 features of Klinefelter’s syndrome

A 
Eunuchoid 
Testicular dysgenesis 
Reduced fertility 
Mitral valve prolapse 
Gynaecomastia 
Osteoporosis
91
Q

What is eunuchoid presentation

A

Tall, slim, long extremities

92
Q

How does cystic fibrosis present

A

Meconium ileum in new-born.

Child: FTT and steatorrhoea

93
Q

How is cystic fibrosis screened for

A

IRT on neonatal blood spot (5d)

94
Q

What is used to diagnose cystic fibrosis

A

Sweat chloride test

95
Q

When are structural anomalies identified on scan

A

18-21+6

96
Q

What are two most common neural tube defects

A

Anencephaly

Spina bifida

97
Q

What is anencephaly

A

Absence cranial vault and cerebral cortex

98
Q

What is prognosis of anencephaly

A

1-year

99
Q

What is spina bifida

A

Failure of vertebrae to fuse - causing herniation spinal cord

100
Q

What are the 3 types of spina bifida

A
  • Occulta
  • Meningocele
  • Myelomeningocele
101
Q

What is spina bifida occulta

A

When vertebrae fail to fuse - but there is no herniation of the spinal cord

102
Q

What is meningocele

A

Vertebrae fail to fuse - causes herniation meninges

103
Q

What is myelomeningocele

A

Vertebrae fail to fuse - herniation meninges and spinal cord

104
Q

How does myelomeningocele present

A

Abnormal neurology below the lesion

105
Q

How are NTD prevented

A

400mcg Folate from 3m pre-conception to 12W

106
Q

What is the most common anomaly detected on structural anomaly scan in children

A

Cardiac anomalies

107
Q

What is the most common structural cardiac defect

A

VSD

108
Q

What murmur will be present in VSD

A

Pansystolic

109
Q

What is the mnemonic to remember teratogenic drugs

A

TERATOWA

Thalidomide
Epileptic medications
Retinoids 
ACEi, ahminoglycosides 
Third element = lithium 
Oral contraceptives
Warfarin
Alcohol
110
Q

What are complications of ACEi during pregnancy

A

Renal dysgenesis

Prolonged foetal hypotension

111
Q

What are complications of alcohol during pregnancy

A

Absent philtrum
Hypoplastic upper lip
Microcephaly

112
Q

If a foetus has an absent phitrum and hypo plastic upper lip what is the cause

A

Foetal alcohol syndrome

113
Q

What does cocaine use in pregnancy cause

A

IUGR
Placental abruption
Pre-maturity

114
Q

What abnormality does lithium use in pregnancy cause

A

Ebstein’s anomaly

115
Q

What is Ebstein’s anomaly

A

Low insertion of the tricuspid valve causing large right atrium and small right ventricle

116
Q

What causes Ebstein’s anomaly

A

Lithium

117
Q

What does thalidomide use in pregnancy cause

A

Limb-reduction defects

118
Q

What does valproate use in pregnancy cause

A

NTD

119
Q

What is a mnemonic to remember antibiotics toxic in pregnancy

A

MCAT

120
Q

What antibiotics are toxic in pregnancy

A

Metronidazole
Chloramphenicol
Aminoglycosides
Tetracyclines

121
Q

What does metronidazole cause if used in pregnancy

A

Hepatic impairment

122
Q

What does chloramphenicol cause if used in pregnancy

A

Grey-baby syndrome

123
Q

What do amino glycoside cause if used in pregnancy

A

Ototoxic

124
Q

What do tetracyclines cause if used in pregnancy

A

Yellow discolouration teeth and weakness bones

obstetrics (27 decks)

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