A reproductive history of mothers with spina bifida offspring-a new look at old issues

Abstract

BackgroundSpina bifida is a disorder of the cerebrospinal fluid system associated with failure of neural tube closure in the fetus. Reproductive history studies of mothers with spina bifida offspring have often been conducted shortly after the affected child's birth. In this study, a large group of community-based mothers were studied after most had completed their families. The aims were to present a more comprehensive reproductive history and to test several hypotheses regarding the nature of spina bifida.MethodsData from 271 mothers was collected by interview 18.3 mean years after the affected child's birth. Data analysis was by χ-square, Fisher exact test and t test with a p value less than 0.05 considered significant.ResultsFemales made up 56.5% of affected offspring (probands) and 53.1% of unaffected offspring. The spina bifida and anencephaly recurrence rate was 4.0%. The twinning rate was 8.6/1000 live births. 24.4% of mothers had a history of spontaneous abortion and the rate varied by pregnancy order from 87 to 185/1000 live births. Duration of pregnancies subsequent to probands was shorter for female than male probands. Mean birth weight of probands with high lesions exceeded those with low lesions. A spontaneous abortion preceded female probands more often than males as compared to live births. Affected males with high lesions conceived by white mothers were at greater risk to be spontaneously aborted. Previous inter-gestational interval for mothers with no history of spontaneous abortion was longer for probands than unaffected offspring but not for mothers with a history of spontaneous abortion.ConclusionOverall, and for every major subgroup of these mothers, more affected and unaffected female than male offspring were born. Differences by gender and lesion level among probands and between probands and unaffected offspring were consistent with an etiology of unknown genetic factors, hormonal and/or immune system factors.

Determination of Methyl Tetrahydrofolate Reductase, TEAD2 and PAX3 Gene Polymorphisms in Patients with Spina Bifida

“…Suudi Arabistan'da SB hastalarında yapılan bir çalışmada hastalarda %89, kontrol grubunda ise % 67 ile akraba evliliği yönünden istatistiksel olarak anlamı fark tesbit edilmiştir (19) . SB'lı çocukların bulunduğu ailelerde farklı bireylerde SB görülme oranı literatürde %4 civarındadır (7,20) , çalış-mamızda ise bu oran literatürün çok üstünde, %11.9 olarak bulunmuştur. Bu durum çalışma grubumuzda SB'ya genetik bir yatkınlık olmasıyla açıklanabilir.…”