title: Associated anomalies with neural tube defects in fetal autopsies.
abstract: Neural tube defects (NTD), the consequences of aberrant neural tube closure during embryogenesis, have been mostly investigated in terms of their high prevalence, rate of mortalities and serious morbidities. A proper prenatal outcome counseling of couples coming across a fetal anomaly necessitates the detection and categorization of the primer abnormality, all the co-existing malformations. The aim of this work is to study the incidence and relevance of associated malformations in order to offer a complete pathology report with a true diagnosis. In this study, among 542 fetal autopsy 62 (%11.4) cases with NTD was recorded by the Akdeniz University Pathology Department between January 2006 and June 2012. Twenty (32.4%) NTD cases were associated with anomaly. Twelve cases of associated groups consisted of a congenital syndrome/association, spondylothoracic dysplasia, amniotic band syndrome, Meckel-Gruber syndrome, schisis association. The frequency of associated NTD was 32%, this result was higher than previous reports. NTDs have a significant genetic component to their etiology that interacts with environmental risk factors, which might pose Turkey to be a country with high prevalence of NTD. We want to emphasize that intensive screening, documentation of co-existent abnormalities of NTD, should be conducted in order to exhibit certain diagnosis, to perform proper prenatal genetic counseling of parents for on-going/future pregnancies.
authors: a Department of Pathology and.
authors: Havva Serap
authors: HS
authors: Toru
authors: b Department of Gynecology & Obstetrics , School of Medicine, Akdeniz University , Antalya , Turkey.
authors: Cem Yasar
authors: CY
authors: Sanhal
authors: a Department of Pathology and.
authors: Özlem Ceren
authors: ÖC
authors: Uzun
authors: a Department of Pathology and.
authors: Guzide Ayse
authors: GA
authors: Ocak
authors: b Department of Gynecology & Obstetrics , School of Medicine, Akdeniz University , Antalya , Turkey.
authors: İnanç
authors: İ
authors: Mendilcioğlu
authors: a Department of Pathology and.
authors: Fatma Şeyda
authors: FŞ
authors: Karaveli
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000473:pathology*; D001344:Autopsy; D005260:Female; D005313:Fetal Death; D005333:Fetus / Q000002:abnormalities* / Q000473:pathology*; D006801:Humans; D009436:Neural Tube Defects / Q000453:epidemiology / Q000473:pathology*; D011247:Pregnancy; D015995:Prevalence; D014421:Turkey / Q000453:epidemiology
keywords: Anencephaly; chranioschisis; genetic; malformation; spina bifida