Services on Demand
Journal
Article
Indicators
Cited by SciELO
Related links
Similars in SciELO
uBio
Share
BAG. Journal of basic and applied genetics
On-line version ISSN 1852-6233
Abstract
MARSA, S.M; DELLA VEDOVA, M.C; OLIVERA, M and SIEWERT, S.E. Anencephaly associated to trisomy 18 with high Alfa-1 fetoprotein in amniotic liquid: One case reported in San Luis, Argentina. BAG, J. basic appl. genet. [online]. 2016, vol.27, n.1, pp.19-27. ISSN 1852-6233.
Authors present a case of anencephaly with trisomy 18, diagnosed prenatally by ultrasonographic screening and karyotype of cultured amniotic cells. Elevated levels of alpha-1-fetoprotein (AFP) were found in the amniotic fluid of a 33-year-old woman in the 15th week of gestation. Since fetuses with trisomy 18 are subjected to early fetal loss or premature birth, the more subtle physical features of this condition may not be apparent. Our case supports the premise that anencephaly is part of the trisomy 18 phenotype. Thus, performing karyotype of fetuses with anencephaly should be considered.
Keywords : Anencephaly; Alpha-1 fetoprotein; Trisomy 18.