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

BackgroundSpina 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

AimsThe 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

211 cases identified 203 included in analysis

156 (76.8%) resulted in TOP

40 (20%) liveborn

2 (1%) were foetal losses

2 (1%) were still born

Results

200 (98.5%) antenatally Dx 3 (1.5%) postnatal Dx

Maternal details

Maternal age ranged from 16-43 years

The median age of mothers who continued the pregnancy was 27 years32.5% primiparous

The median age of those who terminated the pregnancy was 27 years 29.4% primiparous

Maternal Folic acidIncomplete 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

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

Antenatal Diagnosis

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

Isolated Spina Bifida Ventriculomegaly Associated Anomalies0

20

40

60

80

100

120

7

25

12

41

73

42

TOPlive births

Postnatal diagnosis3 cases were diagnosed post-natally

◦All isolated

◦No ventriculomegaly

◦No additional abnormalities

◦All 3 required surgery

◦One of these was a closed lesion

Live birthsOf 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 births4 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

Neurosurgery39 (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

SummaryThe 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