Document Detail

First trimester diagnosis of iniencephaly associated with fetal malformations and trisomy 18: report of a new case and gene analysis on folate metabolism in parents.
MedLine Citation:
PMID:  17688469     Owner:  NLM     Status:  MEDLINE    
Iniencephaly is a rare congenital malformation consisting of a complex alteration of the embryonic development occurring around the third post-fertilization week and characterized by a hyper-retroflexion of the cephalic pole. We report a case of iniencephaly associated with acrania-encephalocele, spina bifida and abnormal ductus venosus in a fetus with trisomy 18 diagnosed at 12 week's gestation in a 41-year-old woman. A co-occurrence between aneuploidy and iniencephaly was documented and polymorphisms on folate metabolism-related genes were investigated in the parents to assess possible etiologic factors and recurrence risk for neural tube defects (NTD). An homozygous state for the MTRR polymorphism was diagnosed in the mother, identifying a clinical risk for NTD. Once iniencephaly or any other NTD are suspected, genetic analysis, second level ultrasound and fetal karyotype are recommended. Autopsy should also be performed in all cases of early ultrasound-based diagnosis of fetal malformations.
Gabriele Tonni; Daniela Azzoni; Marco Panteghini; Alessandro Ventura; Pietro Cavalli
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Congenital anomalies     Volume:  47     ISSN:  0914-3505     ISO Abbreviation:  Congenit Anom (Kyoto)     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-08-10     Completed Date:  2007-11-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9306292     Medline TA:  Congenit Anom (Kyoto)     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  101-4     Citation Subset:  IM    
Division of Obstetrics and Gynecology, Guastalla Provincial Hospital AUSL Reggio Emilia, Italy.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  genetics*
Chromosomes, Human, Pair 18*
Folic Acid / metabolism
Neural Tube Defects / diagnosis*,  genetics*
Pregnancy Trimester, First
Prenatal Diagnosis
Ultrasonography, Doppler / methods
Ultrasonography, Prenatal / methods
Reg. No./Substance:
59-30-3/Folic Acid

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