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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


, : 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. Congenital Anomalies 47(3): 101-104

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-retroilexion 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.

US$19.90

PMID: 17688469

DOI: 10.1111/j.1741-4520.2007.00154.x


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Sigedin V.N.; Aranovich V.L.; Matytsin A.N.; Chernenko A.I.; Turkhanov A.T., 1999: Experience of mining operations at Almalyk mines. Gornyy Zhurnal 1999(4): 13-18

Borowska, A.; Senczyszyn, J., 2002: Decade of changes in Polish agriculture - food production and food self-sufficiency of the country. Self-sufficiency in food and changes in food consumption in Poland during 1988-99 are examined. Positive and negative changes in agricultural production brought about by the process of introducing and developing a market economy throughout the las...

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Levy, Y.; Hasson, O.; Zeltser, R.; Nahlieli, O., 1998: Temporomandibular joint derangement after air bag deployment: report of two cases. Journal of Oral and Maxillofacial Surgery 56(8): 1000-1003

Zhang, Y.; Zhou, W.; Yuan, Q.; Wu, Q., 2015: A low computation cost method for seizure prediction. The dynamic changes of electroencephalograph (EEG) signals in the period prior to epileptic seizures play a major role in the seizure prediction. This paper proposes a low computation seizure prediction algorithm that combines a fractal dimension...

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Bessho, M.; Hirashima, K.; Kawase, Y.; Ohtani, M., 1985: An improved method for determination of phosphoglycerate kinase isoenzyme patterns of murine hemopoietic cells by cellulose acetate membrane electrophoresis. Cellulose acetate membrane electrophoresis was employed to determine phosphoglycerate kinase (PGK) isoenzyme patterns of hemopoietic cells of Pgk-1a/Pgk-1b mice carrying X-chromosome-inactivated mosaicism for the PGK gene. Since the technique enab...

Klepp, K.I., 1999: Smoking among adolescents. Tidsskrift for den Norske Laegeforening 119(25): 3721-3721

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