Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation.
OBJECTIVE
To determine the prenatal evolution/natural history and postnatal outcome of fetuses diagnosed with a neural tube defect (NTD) lacking the Arnold-Chiari-II malformation (ACM II).


METHODS
This retrospective study reviewed 16 fetuses evaluated with ultrasound (US) and MRI at a single referral center from 1/2000 to 8/2007. Follow-up studies and available postnatal outcomes were reviewed.


RESULTS
Postpartum diagnosis was terminal myelocystoceles 7/16 (44%); myelomeningoceles (MMCs) 3/16 (19%); lipomyelomeningoceles 2/16(13%); and thoracic myelocystocele 1/16 (6%). Three patients (19%) were lost to follow-up or termination of pregnancy. Two prenatally diagnosed 'closed' NTD were postnatally found to be MMCs. Three of the myelocystoceles had additional omphalocele, bladder extrophy, imperforate anus and spinal defect (OEIS complex). For the total cohort, impaired lower extremity function was seen in 38%, impaired bladder function in 64%, and ventriculoperitoneal shunting in 8%. Four fetuses with a myelocystocele developed hindbrain herniation in the third trimester of pregnancy. The preterm delivery rate was 38%. Five of eight (63%) neonates with postnatally diagnosed myelocystoceles had mothers with a body mass index over 30.


CONCLUSIONS
Prenatal differentiation between closed and open NTD is not always possible. Postnatal outcome of isolated myelocystocele and MMC seems to be more favorable than for an NTD with ACM II (shunt requirement). Incontinence is the major childhood morbidity. Maternal obesity may be a risk factor for closed NTDs.
Hüsler
Margaret R
MR
Department of Obstetrics, University Hospital, Zürich, Switzerland.
Danzer
Enrico
E
Johnson
Mark P
MP
Bebbington
Michael
M
Sutton
Leslie
L
Adzick
N Scott
NS
Wilson
R Douglas
RD
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008591:Meningomyelocele / Q000175:diagnosis; D009436:Neural Tube Defects / Q000150:complications / Q000175:diagnosis*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods; D011859:Radiography; D012189:Retrospective Studies; D013122:Spinal Diseases / Q000150:complications / Q000151:congenital / Q000175:diagnosis; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014463:Ultrasonography; D001745:Urinary Bladder Diseases / Q000150:complications / Q000151:congenital / Q000175:diagnosis