Isolated and ventriculomegaly-associated cases of spina bifida in genetic counseling: Focus on fetal pathology

• Published in: Pathology, research and practice Vol. 209; no. 7; pp. 409 - 412
• Main Authors: Joó, József Gábor, Csaba, Ákos, Szigeti, Zsanett, Rigó, János
• Format: Journal Article
• Language: English
• Published: Germany Elsevier GmbH 01.07.2013
• Subjects: Abortion, Induced; Adult; alpha-Fetoproteins - analysis; Animals; Associated malformations; Biomarkers - blood; Female; Fetopathology; Fetus - abnormalities; Fetus - metabolism; Fetus - pathology; Genetic Counseling; Genetic Predisposition to Disease; Humans; Hydrocephalus - blood; Hydrocephalus - embryology; Hydrocephalus - genetics; Hydrocephalus - pathology; Phenotype; Pregnancy; Recurrence; Retrospective Studies; Risk Factors; Risk of recurrence; Spina bifida; Spina bifida associated with ventriculomegaly; Spinal Dysraphism - blood; Spinal Dysraphism - embryology; Spinal Dysraphism - genetics; Spinal Dysraphism - pathology; Ultrasonography, Prenatal; Young Adult; Risk of recurrence; MSAFP; MoM; AFP; SB; Associated malformations; Spina bifida; MASZNUT; Spina bifida associated with ventriculomegaly; Fetopathology; CSM; SB+V; NTD; alfa-fetoprotein; maternal serum-AFP; multiple of median; neural tube defects; Hungarian Society of Ultrasound in Obstetrics and Gynecology; craniospinal malformation; spina bifida+ventriculomegaly
• ISSN: 0344-0338; 1618-0631
• DOI: 10.1016/j.prp.2013.04.003

Cases of spina bifida alone and in association with ventriculomegaly represent important but different malformations according to clinical characteristics. In our study, we analyzed the data on pregancies terminated because of isolated cases (n=307) and ventriculomegaly-associated cases (n=372) of spina bifida. In spina bifida cases in association with hydrocephalus, positive obstetric history was found approximately 1.5 times more frequently than in the isolated ones. The incidence of positive genetic history was nearly two-fold in the latter cases. In isolated cases of spina bifida, associated malformations were more common than in cases of spina bifida and ventriculomegaly together. The most frequent associated malformations were those of the urogenital system (in cases of spina bifida: 11.1%; in cases of SB+V: 9.14%). The risk of recurrence of SB+V is significantly higher than that of isolated SB (8.9% vs. 2.1%). It can be concluded that positive genetic history is more common in cases of isolated spina bifida. Malformations out of the nervous system are more commonly observed in cases of isolated spina bifida. During the prenatal diagnostics of spina bifida, sonography must focus on malformations of the urogenital system.