Outcome of Spina Bifida in South Wales over a 10 year

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Transcript Outcome of Spina Bifida in South Wales over a 10 year

Outcome of Spina Bifida in South Wales over a 10
year period 2004-2013
BINOCAR Scientific meeting 2014
N.Gupta, P.Leach, D.Tucker and J.Calvert
Cardiff and Vale University Health Board
Congenital Anomaly Register and Information Service in Wales
Spina bifida is a developmental congenital
disorder caused by incomplete closure of the
embryonic neural tube
The overall prevalence in UK (5.6/10,000 total
Rates in Wales higher (up to 7.42/10,000)
◦ Possible genetic predisposition
The aim of the study was to review the
outcomes of pregnancies and babies
in whom Spina Bifida was diagnosed
and treated at the University Hospital
of Wales (UHW) over a 10 year period
A retrospective audit of all cases of
suspected Spina Bifida diagnosed and
treated at the University Hospital of Wales
from 2004-2013
Cases were identified using the CARIS
database as well as the neonatal and foetal
medicine databases
Cases of anencephaly were excluded as well
as those not born in South Wales or referred
to University Hospital Wales
211 cases identified
203 included in analysis
200 (98.5%) antenatally Dx
156 (76.8%) resulted
in TOP
3 (1.5%) postnatal Dx
40 (20%)
2 (1%) were
foetal losses
2 (1%) were still
Maternal details
Maternal age ranged from 16-43 years
The median age of mothers who continued
the pregnancy was 27 years
 32.5% primiparous
The median age of those who terminated
the pregnancy was 27 years
 29.4% primiparous
Maternal Folic acid
Incomplete data available on 71 cases
Folic acid was not taken in 17 (13%) of 132
In cases which were liveborn folic acid was not
taken in 6 (22%)
In the others folic acid was not taken in 11
(10%) of cases
One case of suspected foetal valproate
Antenatal Diagnosis
200 cases suspected antenatally
48 (24%) cases
of isolated Spina
Ventriculomegaly seen in 98
(49%) of cases
Additional abnormalities
seen in 54 (27%) of cases
These included talipes, hip
dislocation, cleft palate, limb,
cardiac anomalies, renal and
gastro-intestinal anomalies
Chromosomal abnormalities
◦ Chromosomal abnormalities were
suspected in diagnosed in 12 cases:
 7 Trisomy(13/18) confirmed, one suspected
 2 confirmed triploidies
 One rearrangement of Y chromosome
 One case of Saethre Chotzen syndrome
(deletion in part of chromosome 7)
Of the cases of isolated Spina Bifida,
41(85%) resulted in TOP
Of the cases with Spina Bifida and
ventriculomegaly 73 (74%) resulted in
Of the cases with additional
abnormalities, 42 (78%) resulted in TOP
Outcome vs type of anomalies
live births
Isolated Spina Bifida
Associated Anomalies
Postnatal diagnosis
3 cases were diagnosed post-natally
◦ All isolated
◦ No ventriculomegaly
◦ No additional abnormalities
◦ All 3 required surgery
◦ One of these was a closed lesion
Live births
Of the 43 live births 20(46%) were male and
23(54%) were female
38(88%) of the defects were open, 5(12%) closed
19(44%) had ventriculomegaly at birth
23(53.4%) had additional abnormalities
◦ These included talipes, hip dislocation, cleft
palate, limb and cardiac anomalies
Chromosomal anomalies confirmed in 2 cases
Live births
4 of the live born infants died in the
neonatal period. These were related to
the severity of the associated
◦ One baby died during initial resuscitation
◦ 3 had withdrawal of intensive care
39 (90.7%) of the live births required
closure of the neural tube defect
4(9.3%) did not require surgery
Surgery for ventriculomegaly was
performed in 20 (46%) of the babies
The congenital anomaly register provides valuable
information regarding outcome of pregnancies
following diagnosis of suspected anomaly
Antenatal diagnosis of Spina Bifida in 98.5%
Overall termination of pregnancy in 77%
No significant difference in termination rate in
presence of additional abnormalities
Although folic acid data is incomplete a significant
proportion of women did not take folic acid which
needs to be addressed
Thank you to CARIS for helping
providing the Data for the study