title: Genetic heterogeneity in neural tube defects.
abstract: In 1985-1987, the authors attempted to ascertain all cases of confirmed neural tube defects (NTD) in California and Illinois, not only among live-born infants (postnatal) but also cases ascertained during pregnancy (prenatal). Mothers of both prenatal and postnatal NTD cases were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had anomalies not ordinarily associated with NTD. The frequency of non-NTD related anomalies was 9.4% (5/53) in anencephaly, 0/3 in craniorachischisis, 22.9% (8/35) in encephalocele, 14.5% (27/186) in spina bifida, 20% (1/5) in multiple NTD cases and 19% (4/21) in other NTDs. However, relatively few postnatal NTD cases had known multiple malformation patterns; Meckel-Gruber syndrome was the most common, with 2 postnatal cases, and 3 additional prenatal cases. Maternal age, paternal age and birth order in postnatal cases were 26.7 +/- 5.4 SD, 28.9 +/- 5.8 and 2.8 +/- 1.8, respectively. These characteristics were similar in prenatal NTD cases (27.9 +/- 6.0, 30.1 +/- 6.3, 2.5 +/- 1.5, respectively). We also found no differences in parental ages among different types of NTD. Frequency of prior spontaneous abortion differed neither between postnatal NTD (9.3%) and postnatal controls (8.1%), nor between prenatal NTD (10.7%) and prenatal control (8.7%). Loss rates in the pregnancy immediately prior to the index NTD cases were not significantly higher than in control subjects. The high frequency of non-NTD associated malformations (14.9%) indicates the caution must be exercised before assuming that a given NTD case is polygenic-multifactorial in etiology, especially cases of encephalocele.
authors.affiliation: Department of Obstetrics Gynecology, University of Tennessee, Memphis.
authors.forename: J L
authors.initials: JL
authors.lastname: Simpson
authors.forename: J
authors.initials: J
authors.lastname: Mills
authors.forename: G G
authors.initials: GG
authors.lastname: Rhoads
authors.forename: G C
authors.initials: GC
authors.lastname: Cunningham
authors.forename: M R
authors.initials: MR
authors.lastname: Conley
authors.forename: H J
authors.initials: HJ
authors.lastname: Hoffman
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006801:Humans; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis