1. Severe early onset IUGR
Dorothy Ting
Nepean Hospital

2. JE-Antenatal history 22yo primip BMI 31 Regional centre, EDD 2/5/15
A positive, serology NAD
Cholecystectomy 12/40
PMHx: depression, PCOS, tramadol use
FHx: deletion on chromosome 20p3 (nephew+sister)
Non smoker

3. JE-Antenatal history Low risk NT
20+4 US symmetrically small = 18/40. Normal FAS +amniotic fluid
21+2 Amniocentesis. Normal results
24+4 US EFW 383g = 20.5/40. Dilatation of right heart and fluid within bowel. REDF. Normal AFI.
Self-referred to Nepean

4. JE-Antenatal history: first visit
25+5 EFW 383g REDF. Normal anatomy
25+5 NICU meeting: steroids, ASA, clexane
Investigation: PET, thrombophilia, TORCH, HbA1c, FGTT, TFT-NAD
28+6 EFW 444g AFI 4.9 REDF, normal MCA+DV
29+4 EFW 472g AFI 7.7 AEDF, normal MCA+DV. Reduced FM on US.
29+4 NICU meeting: surveillance and daily CTG
29+6 NICU meeting: US MWF, daily CTG, CS 31-32/40. Repeat PET Ix

5. JE-Antenatal US

6. JE-Antenatal history 30+4: EFW 494g AFI 11.8 AEDF, normal MCA and DV
30+6 and 31+0: Rescue steroids
31+1: Admission
31+2: MgSO4 loading

7. JE-Delivery 31+2: LSCS of LFI, respiratory effort notes
Birthweight 630g
Apgar 6 at 1min, 8 at 5min
IPPV and suction
Venous gas: pH 7.32, lactate 3
Arterial gas: pH 7.21, lactate 2.9
Pt discharge day 2 post op

8. JE-Placenta Weight 149g (3rd-5th centile) Cord 5-8mm diameter
Variable appearance of villi- oedematous stroma, syncytial knotting
Avascular sclerotic villi
Suggestive of fetal thrombotic vasculopathy
MCS no significant growth
Sent for FISH: Mosaic Monosomy X (36%), probe for chromosome 16 not available

9. Challenging dilemma Extreme prematurity at diagnosis
Early onset, severe IUGR
Aetiology of IUGR
Risks in utero vs perinatal
Timing of delivery
Surveillance

10. Severe early onset IUGR
0.4% of pregnancies
Varying outcomes
EFW <501g, GA< 30/40 and AREDF: FDIU 53%, overall survival 14%, good intact survival
TRUFFLE EFW<550g
Placental dysfunction is amenable to intervention
Delivery
2% median survival gained per day between 24-27/40
GA 29+2 best predictor for intact survival
Multinodal foetal surveillance

11. Foetal surveillance
Baschat AA. Arterial and venous Doppler in the diagnosis and management of early onset fetal growth restriction. Early Human Development 2005: 81:

12. Foetal surveillance and delivery
Perinatal mortality is 5.5x higher if both FH and DV PI affected (SB 1/52 after)
Monitoring: raised UA 2/52, brain sparing 1/52, AEDV 2x/52, 2-3x/7 raised DV PI
Thresholds for delivery for 27/40 and EFW<500g vs 27-37/40 (DV, bPP, FHR)
Steroids

13. Confined placental mosaicism
At least two cell lines with different chromosomal complements
Only placenta affected
Occurs 1-2% viable pregnancies studied by CVS (50% confirmed in placenta)
Mostly autosomal trisomy

14. Pathogenesis
Kalousek DK and Vekemans M Confined Placental mosaicism. J Med Genet 33:

15. Outcomes
Conflicting
Likely depends on genomic imprinting, number of placental cells, specific chromosome
Association with idiopathic IUGR
35% of CPM if high aneuploidy
20% of idiopathic IUGR have CPM
Prenatal loss-MC, FDIU, perinatal (22%)
Long term studies: short stature

16. Specific CPM
Monosomy X: normal phenotype, (45X/46XX/46Xi(Xq), 45X/46XY, 45X/47XYY)
Trisomy 16: severe IUGR, pre-eclampsia, fetal anomalies
Other chromosome associated with IUGR 2, 3, 7, 8, 12, 13, 15, 18, 22
Monosomy X: first case was CVS diagnosis with female XX 3600g, second TOP with foetal cells 46XY, third TOP with foetal cells 47XYY