Prenatal diagnosis, natural history, postnatal treatment and outcome of 222 cases of spina bifida: experience of a tertiary center

Abstract

Objectives To report on the prenatal ultrasonographic diagnosis of spina bifida (SB) and its natural history, treatment and long‐term outcome in a large tertiary referral center. Methods All cases of SB diagnosed between February 1980 and December 2015 in the Obstetric Prenatal Diagnosis Day Unit of the Obstetrics and Gynecology Department at the Catholic University of the Sacred Heart, Rome, were reviewed. All infants with an open defect were delivered by elective Cesarean section and underwent early repair of the spinal defect. A ventriculoperitoneal (VP) shunt and/or third ventriculostomy was performed when needed. Complete postnatal follow‐up was carried out by our multidisciplinary team in the majority of cases. The cohort was analyzed in two groups: Group 1 included patients referred between February 1980 and December 1999; Group 2 included patients referred between January 2000 and December 2015. Results There was a total of 222 cases of SB with a prenatal diagnosis rate of 94.6% (n = 210), with the majority of defects being meningomyeloceles (n = 142 (64.0%)), affecting the lumbosacral level (n = 110 (49.5%)) and being ≥ 2 cm in size (n = 163/195 (83.6%)). There were 174 (78.4%) live births, with more terminations in Group 2 (26.1%) than in Group 1 (10.8%; P = 0.003). Postnatal surgical repair was conducted in 157 cases (99.4% of eligible cases), with death of an infant who was operated on occurring more often in Group 1 (14.1%) than in Group 2 (4.2%; P = 0.03). VP shunt placement was required in 60.3% of infants operated on after January 2000. Long‐term follow‐up was available for 136 children (111 with open defects and 25 with closed defects). Infants born since 2000 with an open defect had normal ambulation or a mild defect in 50% of cases and normal or mild deficit of sphincter function in 37.8% of cases. An intelligence quotient of ≥ 70 was observed in the majority of children (81.4%; 35/43 cases). Worse motor function was associated with progressive prenatal ventriculomegaly, level of lesion and VP shunt placement. Conclusions We describe the prenatal diagnosis, natural history and long‐term outcome of a large contemporary cohort of SB fetuses and infants. In an era of pioneering fetal surgical techniques for in‐utero SB repair, it is important to acknowledge that advances in conventional neonatology and pediatric neurosurgery have allowed increased life expectancy and improved quality of life in patients with SB. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Management of prenatally diagnosed spina bifida: how do we move ahead?

“…I endorse wholeheartedly Inversetti et al's concluding statement that: 'Future studies focused on neurocognitive follow-up of spina-bifida children who undergo surgery compared with those who do not are urgently needed' 1 . The papers by Sileo et al 10 and Masini et al 11 reinforce this conclusion. There is a need for contemporaneous controls to be included in all studies, which should also be sufficiently sized so as to avoid impossibly wide confidence intervals.…”

“…Also in this issue of the Journal are two papers that highlight the pitfalls associated with trying to extrapolate clinically meaningful information from retrospective data. Sileo et al .…”

“…Masini et al . report on 222 cases of spina bifida accumulated over the 35‐year period of 1980–2015. While both groups should be congratulated for assembling reasonably sized cohorts with long‐term follow‐up, the papers suffer from the major problems inherent to retrospective reviews, i.e.…”

“…Also in this issue of the Journal are two papers that highlight the pitfalls associated with trying to extrapolate clinically meaningful information from retrospective data 10 11 . While both groups should be congratulated for assembling reasonably sized cohorts with long-term follow-up, the papers suffer from the major problems inherent to retrospective reviews, i.e.…”

“…The study of Masini et al 11 shares many of the same methodological flaws. In sorting through the numbers, only 157 underwent postnatal repair, with long-term follow-up of 136, but only 111 actually had an open neural tube defect.…”