Establishment and validation of an approach allowing unequivocal fetal sex determination based on placental sex-specific genes

Placenta. 2021 Sep 1:112:132-134. doi: 10.1016/j.placenta.2021.07.295. Epub 2021 Jul 29.


The use of human placenta as a matrix for the prediction of the baby's sex has been recently documented, but evaluation methods for placental sex-determining genes allowing reliable sex prediction are still lacking. We compared the accuracy of the retrospective prediction of the baby's sex using placental mRNA expression of RPS4Y1, DDX3Y, and XIST analyzed by an already reported method and a newly developed evaluation approach. Full concordance between the predicted and the actual baby sex was only obtained when analyzing placental RPS4Y1 expression with the newly proposed method, which was found to be robust and reliable.

Keywords: Fetal sex; Gene expression; Human placenta; Pregnancy complications; Sex-specific genes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • DEAD-box RNA Helicases / metabolism*
  • Female
  • Humans
  • Minor Histocompatibility Antigens / metabolism*
  • Placenta / metabolism*
  • Pregnancy
  • RNA, Long Noncoding / metabolism*
  • Ribosomal Proteins / metabolism*
  • Sex Determination Analysis / methods*


  • Minor Histocompatibility Antigens
  • RNA, Long Noncoding
  • RPS4Y1 protein, human
  • Ribosomal Proteins
  • XIST non-coding RNA
  • DDX3Y protein, human
  • DEAD-box RNA Helicases