Antenatal Care: Aneuploidy, Teratogens Flashcards
1
Q
Who is responsible for antenatal care
A
Midwives
2
Q
When are obstetricians involved
A
High-risk pregnancies
3
Q
When is booking appointment
A
12W
4
Q
How many appointments will an uncomplicated nulliparous women recieve
A
10 appointments
5
Q
When is the early US scan done
A
11-13+6
6
Q
When is structural anomaly scan performed
A
18-20+6
7
Q
When is first-dose anti-D prophylaxis started for rhesus negative women
A
28W
8
Q
When is second-dose anti-D prophylaxis started for rhesus negative women
A
34W
9
Q
When is gestational diabetes screened for
A
- Booking if previous GDM
- 24-28W if at-risk
10
Q
What indicates screening for GDM
A
- First-degree relative diabetes
- Asian
- Macrosomic baby
11
Q
If a women had GDM in a previous pregnancy, when should OGTT be performed
A
16 and 28W
12
Q
What is a pregnant women eligible for
A
Healthy start multivitamin
13
Q
What does a healthy start multivitamin contain
A
Vitamin C
Vitamin D
Folic acid
14
Q
When is folic acid given
A
Pre-conception to 12W
15
Q
Why is folic acid given
A
Prevent NTD
16
Q
When is 5mg folic acid given
A
Anti-epileptics Child with NTD Diabetes BMI >30 HIV Co-trimoxazole
17
Q
When is nuchal translucency looked for
A
11-13+6
18
Q
What are 3 conditions where nuchal translucency may be increased
A
- Down syndrome
- Congenital heart defect
- Abdominal wall defect
19
Q
What are 3 conditions that may cause hyperechogenic bowel
A
- Cystic fibrosis
- Downs syndrome
- CMV
20
Q
What is seen on anomaly scan
A
Look at each structure independently
21
Q
What is Down’s syndrome also known as
A
Trisomy-21
22
Q
What is the most common aneuploidy
A
Trisomy-21
23
Q
What genetic defect is in 95% of trisomy-21
A
Non-Dysfunction
24
Q
What is non dysjunction
A
When two homologous chromosomes fail to separate in downs syndrome
25
What are two other genetic defects possible in trisomy 21
Robertsonian
| Mosaicism
26
What % is due to balanced robertsonian translocation
5
27
What balanced translocation happens in D2
Long-arm chromosome 14, joins long-arm chromosome 21
28
What is mosaicism
two genetically different populations
29
What is risk Down syndrome in under 25's
1:1500
30
What is risk Downs syndrome in 30
1:900
31
What is risk Down syndrome in 35
1:400
32
What is risk in Down syndrome in 40
1:100
33
What is risk in Down syndrome in over 45
1:30
34
What differences can be seen in the eyes of DS child
Large palpabrae fissures
| Brushfield spots
35
What are brush field spots
Grey-brown discolouration of the iris
36
What is an oral feature of downs syndrome
Small mouth
| High-arch palate
37
What is a nasal feature of downs syndrome
Flat broad nasal bridge
38
How do the ears appear in downs syndrome
Small, round, low-set ears
39
What can be seen on hands of downs syndrome child
Single transverse palmar crease
40
What can be seen in feet of someone with downs syndrome
Large sandal gap
41
What is a sandal gap
Large gap between big and second toe
42
What heart defects are seen in DS
AVSD (40%)
VSD (30%
ASD (10%)
43
What bowel defects are seen in DS
Duodenal atresia
| Hirschsprungs
44
What haematological defect is seen in DS
ALL
45
What neurological deficits are seen in DS
Epilepsy
| Early-onset alzheimer's disease
46
What motor features are seen in trisomy 21
Hypotonia
| Delayed motor development
47
What MSK features are seen in trisomy 21
Short-stature
| Obesity
48
What cognitive features are seen in DS
Intellectual disability
49
What are all women in the UK offered
Screening DS with combined test
50
When are women screened for DS
11-13+6
51
What is used to screen for DS
Combined test
52
When can quadruple or triple test be offered to screen for DS
15-20W
53
What are the 4 components of the combined screening test
1. Maternal Age
2. Nuchal translucency
3. bHCG
4. PAPP-A
54
When is quadruple test performed
16W
55
What is PAPP-A
Produced by placenta
56
What do low levels of PAPP-A indicate
Low levels indicate poor placentation - associated with trisomy. (Also low in smokers)
57
What are two types of non-invasive pre-natal testing
SAFE
| IONA
58
How does the SAFE and IONA test work
Looks for foetal blood cells in circulation
59
What is the problem with non-invasive pre-natal testing
Still considered screening test, women will require diagnostic testing
60
What is a 'high-risk' result
Less than 1 in 150 risk DS
61
What is offered to women with 'high-risk' result
Diagnostic testing
62
When can chorionic villus sampling be performed
10-13W
63
Explain CVS
Needle inserted trans-abdominally to take sample from placenta
64
How long does karyotyping for CVS take
2d
65
How long does enzyme analysis for CVS take
3W
66
What is the main advantage of CVS
due to being earlier than amniocentesis - means termination happen earlier
67
What is % miscarriage with CVS
2%
68
What is an additional problem with CVS
mosacism - cells of placenta may be different
69
When is amniocentesis offered
>16W
70
What is amniocentesis
needle inserted trans-abdominally and cells of amniotic fluid taken
71
What is % miscarriage in amniocentesis
1%
72
How long does karyotyping take in amniocentesis
3W
73
How long does PCR take in amniocentesis
3d
74
What is life expectancy of downs syndrome
55 years
75
What is Edwards Syndrome also known as
Trisomy 18
76
What causes Edward's syndrome
Non-Dysfunction
77
What is a risk factor for Edward's syndrome
Maternal Age
78
What are the presenting features of Edward's syndrome
Micrognathia
Cleft palate
Low-set round ears
Rockerbottom feet
VSD
79
What is the prognosis of edward's syndrome
1-year
80
Define patau's syndrome
Trisomy-13
81
What causes patau's syndrome
Non-dysjunction
82
What is a typical feature of patau's syndrome
Holoprosencephaly
83
What is holoprosencephaly
Where the forebrain of both hemispheres fails to seperate
84
What are other features of patau's syndrome
Cleft palate
Polydactyl
Exomphalos
85
What is the prognosis of patau's syndrome
Die shortly after birth
86
What is the genetics in Turner's syndrome
45XO
87
What causes Tuner's syndrome
Absence X chromosome in females
88
What are 4 features of turner's syndrome
Short-stature
Webbed neck
Streak ovaries
Coarctation aorta
89
What is Kleinfelter syndrome
47XXY
90
What are 5 features of Klinefelter's syndrome
```
Eunuchoid
Testicular dysgenesis
Reduced fertility
Mitral valve prolapse
Gynaecomastia
Osteoporosis
```
91
What is eunuchoid presentation
Tall, slim, long extremities
92
How does cystic fibrosis present
Meconium ileum in new-born.
| Child: FTT and steatorrhoea
93
How is cystic fibrosis screened for
IRT on neonatal blood spot (5d)
94
What is used to diagnose cystic fibrosis
Sweat chloride test
95
When are structural anomalies identified on scan
18-21+6
96
What are two most common neural tube defects
Anencephaly
| Spina bifida
97
What is anencephaly
Absence cranial vault and cerebral cortex
98
What is prognosis of anencephaly
1-year
99
What is spina bifida
Failure of vertebrae to fuse - causing herniation spinal cord
100
What are the 3 types of spina bifida
- Occulta
- Meningocele
- Myelomeningocele
101
What is spina bifida occulta
When vertebrae fail to fuse - but there is no herniation of the spinal cord
102
What is meningocele
Vertebrae fail to fuse - causes herniation meninges
103
What is myelomeningocele
Vertebrae fail to fuse - herniation meninges and spinal cord
104
How does myelomeningocele present
Abnormal neurology below the lesion
105
How are NTD prevented
400mcg Folate from 3m pre-conception to 12W
106
What is the most common anomaly detected on structural anomaly scan in children
Cardiac anomalies
107
What is the most common structural cardiac defect
VSD
108
What murmur will be present in VSD
Pansystolic
109
What is the mnemonic to remember teratogenic drugs
TERATOWA
```
Thalidomide
Epileptic medications
Retinoids
ACEi, ahminoglycosides
Third element = lithium
Oral contraceptives
Warfarin
Alcohol
```
110
What are complications of ACEi during pregnancy
Renal dysgenesis
| Prolonged foetal hypotension
111
What are complications of alcohol during pregnancy
Absent philtrum
Hypoplastic upper lip
Microcephaly
112
If a foetus has an absent phitrum and hypo plastic upper lip what is the cause
Foetal alcohol syndrome
113
What does cocaine use in pregnancy cause
IUGR
Placental abruption
Pre-maturity
114
What abnormality does lithium use in pregnancy cause
Ebstein's anomaly
115
What is Ebstein's anomaly
Low insertion of the tricuspid valve causing large right atrium and small right ventricle
116
What causes Ebstein's anomaly
Lithium
117
What does thalidomide use in pregnancy cause
Limb-reduction defects
118
What does valproate use in pregnancy cause
NTD
119
What is a mnemonic to remember antibiotics toxic in pregnancy
MCAT
120
What antibiotics are toxic in pregnancy
Metronidazole
Chloramphenicol
Aminoglycosides
Tetracyclines
121
What does metronidazole cause if used in pregnancy
Hepatic impairment
122
What does chloramphenicol cause if used in pregnancy
Grey-baby syndrome
123
What do amino glycoside cause if used in pregnancy
Ototoxic
124
What do tetracyclines cause if used in pregnancy
Yellow discolouration teeth and weakness bones
