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Results for “Neural Tube Defects”

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PubMed1978

Meckel syndrome and the prenatal diagnosis of neural tube defects.

Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for a detailed examination of all terminated fetuses is emphasised, for the identification of such an autosomal recessive condition alters the genetic counselling for a future pregnancy.

Abnormalities, Multiple↗
PubMed2002

T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.

We investigated the T locus as a candidate gene in a series of patients and families with lumbosacral myelomeningocele. Single-strand conformation polymorphism (SSCP) analysis was used to identify sequence variation in all 8 exons and in intron 7 of this locus. We found evidence of substantial polymorphism within this locus, as previously reported [Papapetrou et al., 1999, J Med Genet 36:208-213], and moderately significant evidence of linkage disequilibrium with the CacI polymorphism of exon 8. However, when the locus was considered as a whole, with all single nucleotide polymorphisms (SNPs) integrated into a haplotype, there was no evidence for linkage disequilibrium. In addition, we did not identify any new sequence variants. Thus, we conclude that the T locus is not a major locus for human NTDs in this sample.

Alleles↗
PubMed2005

Prenatal assignation of lesion levels in neural tube defects by using ultrasonography. Case report and review of the literature.

Myelomeningoceles are routinely diagnosed prenatally by using ultrasonography. Because the level of the neural defect has been shown to correlate with functional and cognitive outcome in infants with myelomeningocele, it is of prognostic importance to identify the level prenatally. The authors report on a case in which the postnatal vertebral level of the myelomeningocele was more rostral than expected based on prenatal imaging.

Adult↗