MFM Flashcards
Timing of CVS
10-12 weeks (can do up to 15)
Cleft lip/palate Ddx
Normal amniontic band facial mass T13/T18 other syndrome
cleft lip association with palate
80%
cleft lip/palate management
Detailed anatomy scan to exclude associated abnormalities
Amniocentesis should be offered
Preparation for delivery
a. Plastic surgeon, ENT, Dentist, speech and language therapist, social work, psychiatrist, genetic counsellor
4. Surgery
a. Repair of cleft lip at 2-3 months
b. Repair of cleft palate at 9-18 months
Diaphragmatic hernia management
Multidisciplinary counselling
MFM specialist, neonatologist, neonatal surgeon, geneticist, paediatric intensivist.
Fetal treatment-Currently in-utero therapy is not available in New Zealand
Follow-up
Fortnight scan for fetal growth and to exclude polyhydramnios
Timing and mode of delivery
• Timing: to consider delivery by 40 weeks gestation
• Mode of delivery: caesarean for standard obstetric indications only
Recurrence risk
• Isolated: 1-2%
• Multiple congenital anomalies of unknown aetiology: <5%
• Referral to genetic counsellor for genetic work-up for recurrence risk of specific
chromosomal abnormalities and syndromes
Diaphragmatic hernia investigations
Referral to Fetal medicine unit
• Fetal genetic studies – amniocentesis:
• Karyotype if isolated
• Microarray if multiple abnormalities
• MRI: Does not improve assessment of lung hypoplasia
• Have a role in the quantitative assessment of liver herniation
• Screening fetal echocardiogram
Kell antibodies management
fetus only affected if kell antigen positive
check husband phenotype as if antigen positive other pregnancies at risk
Refer MFM
serial USS for development of fetal hydrops with MCA PSV (every two-weekly from 18 weeks)
Titres not useful
Inhibits erythropoeisis
Can have IUT
If IUT aim delivery 34-35
if no complications with Kell deliver at term
Can test via nipts or cordocentesis
TTTS management options
Expectant amnioreduction laser therapy selective termination TOP all pregnancy
Trisomy 13
Patau syndrome
1:5000-1:12000 live births
Median survival 2.5 days
significant congenital abnormalities with cardiac defects, omphalocele, duodenal atresia
NAIT
maternal antibodies raised against alloantigens on fetal platelets
Test parents for HPA specific antigens and mum for antibodies
Echogenic bowel differential
IUGR anueploidy infection CF intrauterine bleeding
antibodies that can do cffdna testing
D, C, c, E, e Kell
for antibodies other than D, K, c, what titre to refer to MFM
32 and rising
anti-D titre referral
> 4 - MOD risk HDN
>15=severe risk
anti-c titre referral
> 7.5
7.5-15 - severe risk
refer earlier if anti-E antibodies
Measurement of titres
anti-D and anti -c monthly until 28/40 then every two weeks
all other antibodies-retest at 28 weeks
Management of rising titres
MFM referral
weekly MCA PSV
PP management in fetal anaemia
cord DAT performed
early referral MFM future pregnancies
feed baby regularly- LC support
Bloods for workup of hydrops
TORCH screen Kleihauer CBC G&S HbA1c
cleft lip/palate consequences
speech
feeding difficulties
dental abnormalities
echogenic bowel
non-specific finding in normal fetus
can be associated with chromosomal and non-chromosomal abnormalities
isolated finding - usually good prognosis
association with IUGR and SB and therefore need monthly growth scans
potential causes of echogenic bowel
CF T21, T13, T18 Congenital malformations of the bowel Congenital infections IUGR intra-amniotic bleed (swallowed blood)
Balanced translocation
Significance depends on if de novo or carried by a parent
10% risk abnormality not detected on uss if de novo
Genetic counselling
Test mum and dad (karyotype)
Tertiary uss fetal phenotype
Quintero staging
1: Still see bladder of donor twin - afi >8 & <2cm
2: no bladder of donor twin
3. abnormal dopplers (absent/reversed EDF, abn DV)
4. hydrops
5. one or both twins demise
risks of laser therapy
infection, pprom (6%), fetal death (2%), abruption
80% survival and of those surviving 80% neurologically intact
