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Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

Julia BijokSylwia DąbkowskaAnna Kucińska-ChahwanDiana MassalskaSebastian KwiatkowskiSylwia Gawlik-ZawiślakGrzegorz PanekTomasz Roszkowski
Published in: Archives of gynecology and obstetrics (2022)
A significant number of fetuses with AEAS have additional structural non-NTD anomalies, which are mostly consistent with limb body wall complex. Genetic abnormalities are diagnosed in almost 10% of affected fetuses and trisomy 18 is the most common aberration. Factors that significantly increased the odds of genetic anomalies in fetuses with AEAS comprise male sex, limb anomalies and ventral body wall defects.
Keyphrases
  • genome wide
  • gestational age
  • copy number
  • spinal cord
  • dna methylation
  • deep brain stimulation
  • preterm birth