Outcome of Spina Bifida in South Wales over a 10 year

Report
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
Background

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
births)

Rates in Wales higher (up to 7.42/10,000)
◦ Possible genetic predisposition
Aims

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
Methods

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
Results
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%)
liveborn
2 (1%) were
foetal losses
2 (1%) were still
born
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
cases

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
syndrome
Antenatal Diagnosis
200 cases suspected antenatally
48 (24%) cases
of isolated Spina
Bifida
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)
Outcome

Of the cases of isolated Spina Bifida,
41(85%) resulted in TOP

Of the cases with Spina Bifida and
ventriculomegaly 73 (74%) resulted in
TOP

Of the cases with additional
abnormalities, 42 (78%) resulted in TOP
Outcome vs type of anomalies
120
100
80
73
60
TOP
live births
40
42
41
20
25
0
12
7
Isolated Spina Bifida
Ventriculomegaly
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
hydrocephalus
◦ One baby died during initial resuscitation
◦ 3 had withdrawal of intensive care
Neurosurgery



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
Summary

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
Acknowledgements

Thank you to CARIS for helping
providing the Data for the study

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