Resumo

MARSA, S.M; DELLA VEDOVA, M.C; OLIVERA, M  e  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.

Palavras-chave : Anencephaly; Alpha-1 fetoprotein; Trisomy 18.

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