1
Q
When should you start and stop folic acid?
A
1 month prior to conception to 12 weeks gestation.
2
Q
As per RANZCOG what are the risks associated with increasing BMI and pregnancy risks?
A
With increasing BMI there is increased likelihood of recurrent miscarriage, GDM, HTN, PET, CS, macrosomia, NICU admission, reduced chance of IVF success
3
Q
What are the indications for high dose folic acid?
A
AED use, other meds (sulfasalazine, cotrimoxazole), hx of NTD or spina bifida, BMI >30, MTHFR deficiency, haemolytic anaemia (thalassaemia, sickle), malabsorption (CF, IBD)
monitor in twin pregnancies and if falls increase dose.
4
Q
IPI of less than 6 months is associated with what risks?
A
PTB, low birth weight, SGA, neonatal death
5
Q
What should you do of you have repeated failure NIPT test failure?
A
refer for specialist USS and consideration of diagnostic testing.
6
Q
What should women be counselled about for expanded NIPT?
A
women should be informed of the benefits and harms, prevalence of condition, high false positive rate, unanticipated findings and previously unknown maternal conditions.
7
Q
When should ultrasound be offered for anomaly screening?
A
11-14 weeks
18-22 weeks
8
Q
What can you opt to test for with NIPT?
A
fetal sex
copy number variants
sex chromosomal aneuploidy
micro deletions (eg 22q11.2 deletion syndrome eg digeorge syndrome)
microduplication syndrome
rare autosomal aneuploidies
9
Q
What are the three conditions screened for on basic chromosomal testing?
A
T 21 - most common 50%
T18 edwards syndrome - second most
T13 - patau syndrome third most
these make up 58% of major chromosomal conditions detected on prenatal diagnosis
10
Q
What is the most common x linked recessive disorder?
A
fragile X syndrome
11
Q
What are the most common autosomal recessive disorders?
A
Cystic fibrosis and thalassaemia
12
Q
What is tested for in the three gene panel?
A
Fragile X, CF, spinal muscular atrophy
13
Q
What is the frequency of CF carrier and affected in Australia?
A
1 in 35, 1 in 4925
14
Q
What is the frequency of SMA carrier and affected in Australia?
A
1 in 50, 1 in 9917
15
Q
What is the frequency of fragile X syndrome carrier and affected in Australia?
A
1 in 332, 1 in 7143
16
Q
What proportion of people are affected by a genetic condition?
A
1 in 400
17
Q
What are the options for a couple who are carriers of a recessive genetic condition for having children?
A
- Having a child naturally and seeing if child has the condition
- Conceiving naturally and genetic counselling -> diagnostic testing via CVS or amnio
- Pre-implantation diagnosis with IVF -> selective transfer of an embryo
- Donor sperm
- Adoption
- Not having children
18
Q
What are the two approaches to genetic carrier screening?
A
- sequential - usually women first then the man if needed.
- couple screening - both at once
19
Q
What should be offered to a couple with a high chance of having a child with a condition?
A
- Referral to genetic counselling
- Referral to see specialist in area with this condition
Community resources and patient support groups
20
Q
What is population-based screening?
A
the detection of carrier status of autosomal and X-linked recessive diseases in couples or people who do not have an a priori increased chance of being a carrier based on their or their partners’ personal history or family history
21
Q
What are the three most common prenatal diagnoses made?
A
thalassaemia, FXS, CF
22
Q
What is a variant of undetermined significance? (VUS)
A
an alteration of a gene which cannot be categorised with certainty to mutation or a benign polymorphism
23
Q
What is panethnic screening?
A
screening the general population for a limited range of high frequent single gene disorders
24
Q
What are the benefits and disadvantages of sequential testing of genetic carriers?
A
benefits - cheaper, allows cascade testing
disadvantages - anxiety awaiting partner results
25
What are the benefits and disadvantages of couple screening testing of genetic carriers?
* Advantages: result available at same time frame as one couple for sequential screening, far fewer individuals require genetic counselling since the number of carrier couples is far lower than the number of carriers identified by sequential screening, anxiety from waiting for the partner result
Disadvantages: higher costs, no opportunity for cascade testing (if couples are not told about their individual results), results invalid if change in partner for future pregnancies
26
What genetic findings should labs report?
class 4 (likely pathogenic) and 5 (pathogenic)
VUS shouldn't be reported
27
What are the features of T21?
Down syndrome
1 in 400
Sporadic condition
Having three chromosome 21s in some or all of the bodies cells.
Features are growth developmental and learning delays
28
What are the fetaures of T 18 ?
Edwards syndrome - usually pregnancy loss of infancy loss.
Features are low birth weight, intellectual disabilities and lot of structural anomalies
29
What are the features of Trisomy 13?
Patau syndrome usually pregnancy loss of infancy loss, <10% survive to one year
Features are intellectual disability and a high number or structural abnormalities.
30
What is involved in MSS-1 screening? algorithim?
combines mums age, CRL, NT, PAPP A and free Beta HCG
bloods 9-13+6 and USS 11-13+6
31
What bloods are done for MSS 2?
unconjugated estriol, AFP, inhibin A, hCG
32
What are the sex aneuploidy conditions?
1. Turners syndrome X (45)
2. Kleinfelters Syndrome XXY (47)
3. Triple X syndrome XXX (47)
4. Jacobs syndrome XYY (47)
33
What is a copy number variant? and an eg
A variation on the number of copies on a segment on chromosomal DNA which is usually present on <1% of the population and <7mb in size.
Eg 22q11.2 deletion or DiGeorge syndrome
34
What is a G banded karyotype?
Looks at the chromosome complement of cells. 'G banded karyotype' uses Giemsa staining which creates a stain of dark and light bands (rich and poor gene areas)
needs cultured cells, takes three weeks. confirmatroy test after QF PCR
Used to detect aneuploidy and structural differences with a resolution of 5-10Mb (RCOG)
This can detect a CNV more than 3Mb
35
What is a chromosomal micro array (CMA)?
A molecular technique which shows greater resolution than karyotype and can detect imbalances up to the 50-100kb range.
Standard test for microdeletions and duplication syndromes with CNVs <3Mb
Takes 10-14 days
Will detect 7% additional genetic causes over karyotype or QF PCR
36
What is diagnostic test accuracy?
the performance of a diagnostic test in identifying or excluding a particular condition or disease
37
What is Diagnostic yield?
The proportion of people undergoing a test that will have a clinically relevant condition detected
38
What is incremental yield ?
the proportion of additional people have the condition who were tested positive who wouldn't have been detected with another type of test
39
What is screen positive result?
the proportion of people who test positive for the screening test
39
What is the sensitivity and false positive rate of NIPT? and no result risk
* NIPT - sensitivity for T21 98%, T 18 98%, T13 92%, false positive rate of 0.034-0.07%
○ No result 0.85%
40
What is the sens and false positive rate for MSS 1?
pooled sensitivity rate 87% with false positive rate of 5%
41
What should be done prior to NIPT?
An USS to confirm gestation viability and singleton/twins
42
Influenza vaccine reduction in coming to ED or being admitted?
81% less likely to come to ED with respiratory symptoms and 65% less likely to be hospitalised.
43
Influenza vaccine benefit for baby?
lower risk of low birth weight, PTB and fetal death
44
Influenza vaccine benefit for neonate?
85% have immunity age <8 weeks, 41% less likely to get influenza in first 6 months
45
What effects can influenza cause for the neonate?
febrile convulsions, pneumonia, brain inflammation, D+V
46
What are the risks in pregnancy is women get in fluenza?
In pregnancy placental transmission is rare
T1 – miscarriage
T2+3 - PTB, low BW
47
Whooping cough, is it contagious?
Yes spread by droplet, if not immune 90% of household contacts will get it.
48
What is the incubation period of whooping cough?
5-10 days
49
Whats are the symptoms of whooping cough?
Early symptoms or rhinorrhoea, sneezing, cough. Neonates get apnoea attacks.
Later symptoms are cough fits followed by whooping breath. Vomiting, blue appearance. Can last months (100 day cough).
50
What pathogen causes whooping cough?
bordatella pertussis, a bacteria (notifiable disease)
51
Who is an unvaccinated baby most likely to catch whooping cough from?
Mum
52
What are the risks of hospitalisation in the first year of life if catch whooping cough and the poor outcomes from this?
50% of babies who catch it less than 12 months of age will need hospital admission
1-2% of hospitalised babies will die.
2 in 1000 will have permanent brain damage, deafness, paralysis, blindness
53
What is the vaccination schedule for whooping cough?
Mother vaccinated in pregnancy - from 16 weeks, ideally in t2, but up to two weeks prior to delivery
Vaccination at 6 weeks, 3 months, 5 months, 4 years and 11 years
Close contacts - should be vaccinated every 5 years
54
How long does it take for the whooping cough vaccine to work?
10-14 days
55
How effective is the vaccine preventing pertussis?
71-85% effective in preventing pertussis. Lasts 5-10 years
56
Is there treatment for pertussis?
yes, unlikely to effect clinical course but may reduce transmission. Effective if given 3-4 weeks from cough onset
Up to one year old - treated with azithromycin for 5/7
Children and Adults treated with erythromycin for 14/7
57
What is the risk if a live vaccine is given in pregnancy?
Although not recommended there are no adverse events recorded historically so it is not a reason for termination.
58
What vaccines are included in the neonatal vaccine schedule at 6 weeks?
1. Rotavirus
2. hep B
3. HIb
4. Men B
5. pertussis
6. pneumococcus
59
What vaccines are included in the 3 months vaccines?
1. Rotavirus
2. hep B
3. HIb
4. Men B
5. pertussis
60
What vaccines are included in the schedule at 5 months?
1. pneumococcus
2. Hep B
3. HIb
4. Men B
5. pertussis
61
What additional vaccines are recomended for preterm neonates <28 weeks?
Pneumococcus - additional vaccine 3 months age (total 4 months)
Influenza for chronic illness 6 months
For their families - whooping cough, if mum didn't have <14 days prior to delivery
62
What changes to the vaccine schedule are recommended for babies of mums on biologic therapy or DMARDs in T3?
No live attenuated vaccines, the different depending on drug
orla polio, rotavirus, BCG. some up to 12 months of age.
63
What are the benefits and risks of using NIPT as a second-line test after raised MSS1?
Benefit - less invasive, thus mot carrying miscarriage risk
Risks - false positive rate?, delay in diagnosis and information, may get a no- call result, doesn't detect as many conditions as diagnostic testing
64
What is the sensitivity and FPR of MSS 2 ?
Sensitivity 77-81%
FPR - 5%
65
What aneulploidy can't be looked for with MSS 2?
T13 - patau
66
What are the USS findings in turners? XO
hydrops, cardiac anomalies, increased NT, cystic hygroma
67
What is an abnormal NT?
>3mm some say 3.5
68
What is the sensitivity of a 11-14 week scan for overall anomaly or lethal anomaly?
37% and lethal 91%
69
What are the soft USS markers?
* Echogenic bowel
* Ventriculomegaly
* Abberant right subclavian artery
* Short femur or humerus bones <2.5%
* Mild renal pelvis dilatation
* Thickened nuchal fold
Hypoplastic nasal bone
70
What are soft USS markers related to ?
aneuploidy and congenital infection
71
What is the concern about USS prior to 13 weeks?
Avoid spectral doppler, colour doppler, power imaging and other doppler modalities prior to 13+6 as there is theoretical risk of impact on embryonic development.
In the context of diagnosis of fetal anomaly 11-13 weeks it is considered safe to use routinely to diagnose anomalies and improve diagnostic accuracy
72
What NIPT options should be offered to all women?
sex chromosomal aneuploidies, T13, 18, 21.
73
What is the downside to offering Expanded NIPT for CNVs?
copy number variants - high number of false positives (2/3s) and a high number won't be detected. We don't know the significance of some. Heightens parents anxiety
74
What is the downside to offering Expanded NIPT for SCAs?
Sex chromosome aneuploidies - high false positives with placental mosaicism, for XO the PPV is <50%, higher for extra Y chromosome. Highly variable phenotype and this can be unpredictable, difficult to counsel women about this. May detect an SCA in the mother.
75
What is the downside to offering Expanded NIPT for RATs?
Rare autosomal aneuploidies - low PPV 11%, miscarriage rates high. Placental mosaicism or true fetal mosaicism
76
What is QF PCR?
Quantitative flourescence polymerase chain reaction.
Molecular genetic testing which takes 48 hours, test on cells cultured or uncultured. tests for aneuiploidy on chr 13, 18, 21 and sex (95% of aneuploidies)
77
When should the booking visit be completed by?
10 weeks
78
What is the routine number of visits expected in a low risk nulliparous pregnancy woman?
10 visits
79
What are the basic things to be covered in the booking visit?
1. Confirm gestational age by LMP or USS
2. clarify medical history, psycho social background with a view to planning the management and optimising these conditions
3. Give advice on pregnancy
4. Discuss schedule of visits
80
When is the T1 and FAS meant to be done?
12-13+6
Prior to 20 weeks
81
What history should be taken from a patient at their first booking antenatal visit?
* Medical history
* Family history
* Varicella: should be asked about history of chickenpox/shingles, advised to avoid contact if seronegative & seek treatment immediately if exposed
* Cervical screening
* Screening for chromosomal conditions
* Carrier screening
* Maternal mental health screening
* Family violence screen
82
What investigations should be done at booking antenatal visit?
* FBC: looking at MCV (haemaglobinopathies), Hb and platelets screens for anaemia, thalassaemia, thrombocytopenia
○ If MCV low look at haemoglobin electrophoresis and ferritin
* Blood group & antibody screen
* Rubella antibody status
* Syphilis serology with specific treponema pallidum assay: TPHA or TPPA (RPR/VDRL less likely to pick up latent infection)
* HIV screening
* Hepatitis B serology: if positive -> HBV DNA level and Hbe antigen status + LFTs -> referred to gastro
* Hepatitis C serology: offered based on risk factors or universally depending on local policy, if positive -> LFTs and viral load -> refer to gastro
* Midstream urine: to identify asymptomatic bacteriuria
Chlamydia & gonorrhoea: selective testing for those with known risk factors & for all <30 years
HbA1c
83
What tests should be considered at booking visit?
Consider haemoglobinopathy test
CMV IgG if high risk group
TSH if high risk group
84
What advice is given for a first antenatal visit in pregnancy?
* Avoid potential teratogens: medications, alcohol, high dose X-rays
* Lifestyle advice: cessation of smoking/alcohol/recreational drugs, dietary precautions, gestational weight gain, exercise in pregnancy, work & travel precautions
* Influenza & pertussis vaccination recommendations
* Vitamin & iodine supplementation
* Model of care, expected visit frequency, place of booking, expected costs
* Prevention of CMV and other teratogenic infections
Antenatal education options
85
What advice is given at subsequent antenatal visits?
* Proactive approach to preventive measures that optimise pregnancy & birth outcomes
* Advise to sleep on their side from 28 weeks
* Labour & birth discussion by 36 weeks including mode of delivery, analgesia etc.
Vaccination influenza & COVID to protect mother, pertussis to protect infant, ideal time 20-32/40
86
In high risk groups when do you repeat viral testing in pregnancy?
HepB, HepC and HIV at 28-32 weeks and at birth
syphilis at 28, 36 weeks, birth and 6 weeks PN
87
How should women after 41 weeks be cared for?
* Lack of high level evidence on routine surveillance between 41-42 weeks. However adverse fetal outcome in later pregnancy is not always predicted by these investigations
* vigilant of a reduction in fetal movements
* From 41/40 'may be reasonable' to offer twice weekly CTG and USS to measure AFI for surveillance of fetal wellbeing
* Strongly recommended to have frequent assessment of fetal well being and liquor volume when >42/40
88
What are risk factors for cardiac anomaly which can be identifed at booking?
* One previous child 2%
* Two previous children 10%
* Mother with congenital heart disease 6%
* Father with congenital heart disease 2%
* Maternal diabetes 2%, depends on periconceptual glucose control
* Exposure to teratogens, e.g. lithium
89
What are the risk factors for cardiac anomaly which can present during pregnancy?
* Increased NT
* Detection of other fetal anomalies
* Chromosomal abnormality
* Fetal arrhythmia
Fetal hydrops of unknown cause
90
What is the prevalence of fetal cardiac anomaly in live births?
0.4-1%
91
What is A1 fetal renal dilatation?
<28 weeks 4-6mm
>28 weeks 7-9mm
can have some central calyceal dilatation
with no additional findings
92
What is the management of A1 fetal renal dilation?
USS again at 32 weeks
PP USS at 1-3 months
Maternal and fetal GP reg
93
What is A2 fetal renal dilation?
<28 weeks 7mm or more
>28 weeks 10mm or more
can have some central calyceal dilatation
with no additional findings
94
How do you manage A2 fetal renal dilation?
If 10mm or more refer to FMM
Mum to register at GP
Repeat scan at 32 weeks or 4-6 weeks (whichever is later) or as FMM guides
If persistent:
Refer to FMM
Mum and neonatal GP reg
USS day 7 age and again 1-3 months
95
What is A3 fetal renal dilation?
<28 weeks 4mm or more
>28 weeks 7mm or more
Plus abnormality
eg oligohydramnios, peripheral calyceal dilation, abnormal bladder wall, dilated ureter
96
What is the management of A3 fetal renal dilation?
Refer to FMM, follow up determined by them
GP registration for mother
Around delivery:
Mum and neonate GP reg
Consider USS at 24-48 hours if clinical concern eg low UO. Consider a catheter until imaging.
USS at 7 days
USS at 1-3 months
97
What are they measuring in A1-A3 fetal renal dilation?
Anterior to posterior renal pelvic diameter
98
What are the features and what is associated with fetal multicystic dysplastic kidneys?
usually unilateral but 1 in 15 bilateral.
not usually associated with chromosomal anomaly and doesn't normally recur in other pregnancies.
If bilateral with oligo and pulmonary hypoplasia - poor prognosis.
Otherwise usually good.
99
What is a CPAM?
congential pulmonary airway malformation
100
What are the features of CPAM?
lung tissue replaced by non functioning cystic tissue, usually unilateral
Can cause mechanical effects - redued swallowing, pulmonary hypoplasia, heart compression.
Can resolve before birth.
101
If pulmonary effusions become large and cause lung compression what occurs?
pulmonary hypoplasia
102
What is the most common side to get congential diagphragmatic hernia on?
Left 75%
right 20%
bilateral 5%
103
What can result from diaphragmatic hernia?
left sided can cause right heart displacement
pulmonary hypoplasia
prevention of fetal swallowing - polyhydramnios.
pulmonary HTN
104
How often is a congenital diaphragmatic hernia:
- found with associated congential anomaly?
- karyotype anomaly
40%
10-20%
105
What radiological sign is associated with esophageal atresia?
absence of stomach bubble sign and polyhydramnios
note the stomach may fill if there is an associated TOF
106
If you find an esophageal atresia what is your management and why/
refer for invasive genetic testing as 2/3 will have other anomalies.
10% will have VACTERL
107
What condition is identified by the double bubble sign and what is the likelihood of T21 if found?
duodenal atresia (associated with polyhydramnios)
30% - offer invasive genetic testing
may not be seen at the FAS
108
Which condition is associated with chromosomal anomalies and other congential anomalies omphalocele or gastroschisis?
what proportion have other congential malfomations (one is most common) and what proportion have aneuploidy?
omphalocele
associated anomaly 70-80%
cardiac is most common 50%
aneupolidy 1/3 - offer testing
109
What is an omphalocele?
herniation of abdominal contents through membrane covered sac into base of umbilical cord
110
What is gastroschisis?
herniation of bowel to the right side of umbilical insertion, non membrane covering, free floating loops
111
What complications are associated with gastrochisis?
What blood test is raised?
bowel ischaemia and subsequent atresia
high AFP
112
What is a cystic hygroma?
Multiseptated fluid collection of the soft tissues, usually located in the neck.
caused by lymphatic malformation
113
What conditions are associated with cystic hygroma?
turners, pataus, noonans, edwards
commonly found with cardiac defects
114
What are the associated conditions with cleft lip and palate?
trisomy 13 (not 21)
triploidy
offer genetic testing
115
What is the chance of cleft lip/palate if sibling or parent effected?
4%
116
What is the gender balance of cleft lip/palate?
2:1 M:F
117
What is fetal hydrops?
Excess fluid in one or more fetal compartment
118
What can you break up fetal hydrops into?
immune
non immune
119
What are the causes of non immune fetal hydrops?
* Fetal cardiac anomaly or cardiac arrhythmia
* Fetal infection, e.g. parvovirus
* Chromosomal conditions
* Inherited fetal anaemia, e.g. thalassaemia
* Placental anomaly, e.g. tumour or AV malformation
* Twin to twin transfusion syndrome
Fetal neuromuscular disorder
120
What are the causes of immune fetal hydrops?
fetal anaemia due to maternal/fetal red cell incompatibility
121
What are the findings on USS of turners?
cystic hygroma
coarctation of aorta
122
What is VACTERL and it's genetics?
Vertebral defects, Anal atresia, Cardiac defects, Tracheo-esophageal fistula, Renal anomalies, and Limb abnormalities
Not associated with abnormal karyotype
123
What is Beckwith-Wiedemann Syndrome findings and genetics?
* Omphalocoele, large echogenic kidneys, macrosomia, macroglossia
* Complex genetics
Congenital hyperinsulinaemia -> neonatal hypoglycaemia
124
What USS changes to you see in triploidy?
IUGR, ventriculomegaly, oligohydramnios, abnormally large/hydropic/cystic placenta, holoprosencephaly, syndactyly (connected fingers), talipes & sandal gap
125
What is the risk of miscarriage with invasive genetic testing?
1 in 200
126
Where does the cell free dna come from for NIPT? when is it present from
apoptosis of the external layer of placenta or trophoblast
4-5 weeks
127
What is the PPV for NIPT for T21, 18, 13, XO?
94%, 89%, 85%, 39%
128
What are the causes of low fetal fraction on NIPT?
obesity, IVF, small placental size, maternal medical disorders, early gestation
129
What is the false negative and false positive rate of NIPT?
0.1 and 0.3%
130
What are the indications for invasive genetic testing?
high risk aneuploidy screening, fetal structural anomaly, known risk of inherited genetic disease
131
What are the risks associated with invasive genetic testing?
miscarriage 0.5%
infection transmission - if maternal high viral load HIV hep B
need for further test 6%
maternal cell contamination 1-2%
rapid test failure 2%
cell culture failure 0.5-1%
fetal injury, maternal visceral injury, severe infection - rare
132
How common is confined placental mosaicism with CVS sampling?
<2%
133
When can CVS be done?
11-14+6
134
Why can't CVS be done <11 weeks?
The placenta is very thin so technically challenging
<10 weeks oromandibular and imb defects
135
When can amniocentesis be done?
15+
136
What musculoskeletal condition is associated with amniocentesis?
talipes
137
What are the indications for T3 amniocentesis?
IUGR, new anomalies, concern for fetal infection
138
What is the problem with amniocentesis in later gestation?
increasing risk of culture failure as gestation increases. 10%
Risk of PTB
139
What is a Karyotype and what can it detect?
Looks at the chromosome complement of cells. 'G banded karyotype' uses Giemsa staining which creates a stain of dark and light bands.
This can detect a CNV more than 3Mb
140
What is a chromosomal micro array?
is a high-resolution genetic test used to detect copy number variations (CNVs), such as deletions or duplications, across the entire genome. Standard testing for diagnostic testing.
141
What is exome sequencing?
analyses the coding (exon) areas of genes. 1-2% if the genome but 85% of disease causing variants. This is done for very select patients.
142
What is sensitivity?
The proportion of people with the disease that have a positive test
143
What is specificity?
the proportion of people without the disease with a negative test
144
what % of pregnancies have a congenital anomaly?
3-5%
145
are most genetic disorders de novo or inherited?
de novo
146
What is mitosis?
one cell divides into two daughter identical cells, for replacing old cells, growth, repair.
147
what is meiosis?
to form gametes. takes one diploid cell to and forms haploid cells (one single set of chromosomes), one diploid to in one cycle of meiosis, usually forms four haploid cells.
148
What is mosaicism?
Arises from an error in mitosis, occurs any time after conception and results in an individual having more than one cell line -> some cells have correct amount of genetic material & others have abnormal amount or defective gene
149
What is gonadal mosaicism?
can occur in AD conditions where parents are phenotypically normal but can pass condition on to children
150
how common is T21?
1 in 700 live births
151
What is the risk of T21 at 35 vs 20?
1 in 249 vs 1 in 1068
152
What are the clinical features of T21 when born?
up slanting palprebral fissures
brishfield spots (speckled iris)
flattened face
under developed nasal bone
low set ears
skull brachycephaly (short skull AP diameter)
single palmar crease (50%) (simian crease)
clinodactyly - short and curved fingers
sandal gap
153
What are the USS findings of T21?
sandal gap
duodenal atresia
ventriculomegaly
atrioVSD
pericardial effusion
pleural effusion
omphalocele
short long bones
echogenic bowel
mild renal pelvis dilatation
echogenic focus in fetal heart
154
What are the complications of T21?
congenital heart disease 40% (AVSD most common)
dementia 50% at 50 years
leukemia 1%
duodenal atresia 12%
congenital hypothyroidism 1%
cataracts 2%
epilepsy 10%
hearing loss and frequent otitis media
coeliac disease
155
is an atrioventicular septal defect found what is the likelihood of T21?
15%
156
What are the cardiac conditions found with T21?
most commonly AVSD, less common tetralogy of fallot, VSD
157
What is found in tera of fallot?
1.overriding aorta - blood from both ventricles enter aorta
2. pulmonary stenosis
3. right ventricular hypertrophy
4. VSD
158
What is the most common way T21 arises?
non dysjunction in meisosis 96%
85% from maternal lines, 15% from paternal
159
What are the ways T21 can occur?
non dysjunction in meisosis
parental balanced robertsonian translocation
mosiacs
160
What is the risk of recurrence of T21 on top of background risk?
0.56-0.75%
161
How common is live birth of T18?
1 in 3000
162
What gender is more common in T18?
female
163
What % of T18 will miscarry?
95%
164
What are the clinical features of T18?
Head: strawberry skull, choroid plexus cysts, enlarged cisterna magna, Dandy-Walker malformation (cystic malformation in the cerebellum area)
Face: micrognathia, low-set & malformed ears, cleft lip & palate, cystic hygroma
Hands/feet: clenched/overlapping fingers, rocker-bottom feet or talipes
Heart: VSD most common, AVSD, double outlet RV
Omphalocoele, diaphragmatic hernia, growth restriction, polyhydramnios, horseshoe kidney, single umbilical artery
165
How common are USS findings by T2 in T18?
very common >90%
166
What is the prognosis of T18?
poor, most die in the first few days of life.
<10% will survive the first year.
profound developmental delay
167
What is the recurrence risk of T18?
0.75-1%
168
What % of T13 will miscarry?
60% in T2
169
What is the live birth rate of T13?
1 in 5000
170
What are the clinical features of T13?
Head: holoprosencephaly (cerebral hemispheres do not separate properly), agenesis of the corpus callosum, Dandy-Walker syndrome, microcephaly
Cleft lip and palate, polydactyly AVSD/VSD/hypoplastic left heart, renal cysts/hydronephrosis, IUGR (>90%)
171
What is the prognosis of T13?
average lifespan is 7 to 10 days
<5% survive to one year
50% will die in the first month
172
Wha is the recurrence rate on top of background risk for T13?
0.75 -1%
173
What is the live birth rate of turners syndrome?
1 in 2500
174
What are the clinical features of turners syndrome?
wide carrying angle elbow
cardiac defects 20%
webbed neck
short stature
peripheral lymphedema
primary ovarian failure
low hairline
normal intelligence and lifespan
175
what are the cardiac defects associated with turners?
usually coarctation aorta and ASD
176
what is the karyotype of turners?
XO
177
Why do turners syndrome have primary ovarian failure?
streak gonads
178
How does turners syndrome usually occur?
loss of sex chromosome in paternal meiosis 80%
179
What is the risk of recurrence of turners syndrome?
no additional risk
180
can be done for turners syndrome?
sex hormone therapy allows development of secondary sexual characteristics, and increase in height by 3-5cm
with donor oocytes can have IVF
181
What
182
What is a primary sexual characteristics?
sex organs present at birth that continue to mature in life
183
What is a secondary sexual characteristics?
physical traits which develop during puberty and aren't directly involved in reproduction eg facial hair, breasts, voice deepening
184
what is the karyotype of klinefelters?
47 XXY
185
What is the live birth rate of klinefelters?
1 in 1000
186
What are the clinical features associated with klinefelters?
intellectual impairment, clumsiness
tall
long limbs
hypogonadism
infertility
gynaecomastia 40% - breast cancer occurs at same incidence as females
187
What can be done for klinefelters?
testosterone can help with development of secondary sexual characteristics but doesn't improve fertility
188
How can klinefelters occur?
usually from non dysjunction at meisosis - equal mat or pat
15% mosaic 46, XY/ 47 XXY
189
What are the unplanned or wanted genetic findings which may come from whole genetic testing?
cancer susceptibility
non paternity status
consanguity
variants of unknown significance
190
What is the most common autosomal recessive disease in white population?
CF
191
What is the incidence at birth of CF?
1 in 2500
192
how common is it to be a genetic carrier of CF gene?
1 in 25 in white
193
What is the most common gene involved in CF and where is it?
delta F508 mutation on long arm chromosome. 75% of all CF
194
how many different CF mutations are there?
>1000
195
What is the protein involved in CF and what does it do?
cystic fibrosis transmembrane conductance regulator (CFTR). chloride ion channel and modulator of other ions across airway cells
196
What are the clinical problems in CF?
thickened lung secretions
defective bacterial adhesion and phygocytosis of bacteria - prone to pseudomonas
gut malabsorption
meconium ileus
197
What is an USS finding of CF?
echogenic bowel only found in 3-13%
198
What is the treatment approach for CF?
MDT
dietary supplements for pancreatic enzymes
physio to drain bronchial secretions
199
What is gaucher syndrome?
AR disease, lysosomal storage disease from deficiency in enzyme,leading to fatty accumulation in spleen, liver, kidneys, brain, bone marrow
200
What can be done for gaucher syndrome?
enzyme replacement
201
What is tay sachs disease?
AR lysosomal storage disease, absence of HEXA enzyme, get fatty build up in brain and spinal cord causing progressive neurological deterioration from 3-6 months. die by 5y
202
What is the genetics of sickle cell disease?
AR
substitution of valine for glutamic acid in beta globin chain
203
What happens to heterozygotes of sickle cell?
immune to malaria
204
What happens to homozygotes of sickle cell?
red cells crystalise into sickle cell deformity as globin is less soluble
205
Are thalaasaemias AD or AR?
AR
206
What is the genetics of fragile X
X linked dominant, females can have x inactivation causing silencing or milder symptoms
207
What is the incidence of fragile X?
1 in 2000
208
What are the clinical features of fragile X?
learning disabilities moderate to severe
high forehead
long face
prominent jaw
large ears
strabismus
209
What are the two forms of x link muscular dystrophy?
duchennes and becker
210
What are the features of duchennes MD?
progressive muscular weakness from 3, most wheelchair bound by 10, survive until late 20s
female carriers have symptoms in 2-3% cases
211
What are the features of beckers MD?
milder MD, normal life span
wheel chair bound by mid 20s
212
What is the genetics of haemophilia?
both A and B are x linked recessive
213
What CRL is needed to be able to do the NT scan?
45-80mm, equivalent 11+0 -13+6
214
What anomalies can be found on the T1 anatomy scan?
Always: anencephaly, body stalk anomaly, megacystis, alobar holoprosencephaly (failure of hemispheres to separate into two)
Sometimes: spina bifida, facial cleft, polydactyly, renal agenesis, gastroschisis
215
What cannot be diagnosed on the T1 USS?
omhalocele (physiological gut herniation until 12/40)
microcephaly
agenesis of corpus callosum
216
What are the targeted anomalies being looked for in T2 anatomy?
* Anencephaly
* Spina bifida
* Cleft lip
* Congenital diaphragmatic hernia
* Gastroschisis
* Omphalocoele
* Congenital heart disease
* Bilateral renal agenesis
* Lethal skeletal dysplasia
* Edwards syndrome
* Patau's syndrome
217
What is the criteria for polyhydramnios?
DVP >8cm AFI >25cm
218
What are the causes of polyhydramnios?
neuromuscular disorders which effect swallowing
structural abnormalities which inhibit swallowing - duodenal atresia, esophageal atresia, diaphragmatic hernia
fetal anaemia
placental tumours
TTTS
genetic anomalies
diabetes
macrosomia
lithium use
substance abuse
219
If significant polyhydramnios found what should be assessed on USS?
anatomy - TOF, atresia, cleft palate, septal defects
placenta
fetal size
MCA PSV
220
What tests should be considered for significant poly?
diabetic testing
TORCH if other anomalies
USS
consider invasive genetic testing if appropriate
221
What are the obstetric complications associated with severe polyhydramnios?
Obstetric: PTL, PPROM, fetal malposition, cord prolapse, placental abruption after SROM, PPH, higher rates of CS
222
What are the neonatal complications associated with severe polyhydramnios?
Neonatal: higher rates of admissions to NICU, higher birthweight, higher rates of congenital malformations & neurological disorders
223
What is holoprosencephaly?
when the midline structures in the brain do not develop and you get communication between the ventricles. associated with midline anomalies eg clefts, T13.
224
what is the prognosis with holoprosencephaly
very poor, offer invasive genetic testing and termination
225
What is mild ventriculmegaly?
10-2mm, can be normal variant
226
what is moderate ventriculomegaly?
12-15mm
227
What is severe vetriculomegaly?
>15mm
228
What are the causes of ventriculomegaly?
chromosomal
brain structural anomaly
infection
intracerebral haemorrhage
spina bifida
229
What is the management of ventriculomegaly?
TROCH screen
MFM for detailed neuro USS
offer invasive testing
consider MRI
severe may preclude vaginal birth
230
What is spina bifida?
failure of closure of the neural tube anywhere along the spine, most commonly lumbosacral
231
what are USS findings of spina bifida?
lemon sign (scalloping of the frontal lobes)
banana cerebellum (herniation of the cerebellum down spine) an arnold chiari malformation
hydrocephalus,
ventriculomegaly
spinal defect with protrusion of nerves
232
What should be done is suspected spina bifida?
referral to MFM
detail neuro USS and MRI
surgery may be offered if criteria met
233
What are the possible outcomes for spina bifida?
lower lesions have better prognosis
mobility issues - can be wheelchair bound as age
continence issues
IQ can be affected
234
What is the recurrence rate of spina bifida?
1-3% `
235
What is included in NTDs?
A group of birth defects in which an opening in the spine or cranium develops and remains.
Can be separated into open and closed (defect is covered by skin). includes:
spina bifida
anencephaly
encephalocele
iniencephaly
236
What is the most common type of spina bifida?
spina bifida occulta - no nerve involvement, gap in bones only
237
What is dandy walker malformation and what is the prognosis?
agenesis of cerebellar vermis (middle cerebellum)
poor prognosis, offer invasive testing
238
What is the choroid plexus?
in the ventricles and produces CSF
239
What is the importance of a choroid plexus cyst?
should only be reported if other abnormalities are present. if chromosomes are normal then no significance and may resolve
240
What is talipes associated with?
NTDs, chromosomal anomalies, syndromes
241
What causes talipes structurally?
deformed talus bone and shortened archilles resulting in equinus (downward) and varus (inward rotation), forfoor adduciton
242
What USS finding do you get with talipes?
foot print in same plane at tib/fib long
243
How often is talipes bilateral?
50%
244
If isolated talipes what is the risk of aneuploidy?
<4%
245
What are treatment options for talipes?
casting ,surgery, physio
246
What is skeletal dysplasia?
heterogenous group of conditions difficult to establish diagnosis pre birth
247
What should you do if suspected skeletal dysplasia?
xray and genetics referral at birth
248
What is the genetics of achondroplasia?
AD
heterozygote - short stature, normal intelligence and lifespan
homozygote - lethal skeletal dysplasia
80% are de novo
249
When do you see signs on USS achondroplasia?
T3
250
What is arthrogryposis?
multiple flexion deformities of the limbs
251
What causes arthrogryposis?
CNS disorders
oligohydramnios
neuromuscular disorders
connective tissue disorders
252
Ellen's flashcards
flashcards
Decks in class (27)
# Cards
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Week 419
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Week 585
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Autoimmune medications and pregnancy11
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Landmark trials to date13
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Week 6253
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Week 7259
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Week 8232
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Week 9206
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Week 10364
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Week 258
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week 371
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Week one136
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Week 11237
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Week 12314
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Week 13381
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GONC 1395
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GONC 2259
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Week 16134
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Week 17410
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Week 18266
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Week 19347
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Week 20307
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Week 21430
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Week 22370
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Week 23298
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Week 24325
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Week 261
