Maternal liver transplant: Another cause of discordant fetal sex determination using cell‐free DNA. (4th January 2018) - Neofytou, Maria
Abstract: Noninvasive prenatal testing (NIPT) can very accurately determine fetal sex during pregnancy. We present an exceptional case where NIPT contradicts the ultrasound‐based sex determination. The pregnant woman was recipient of a liver transplant from a male donor. Graft‐derived cell‐free DNA released into the maternal circulation clouded the NIPT‐based sex determination. Hence, NIPT is not advisable when the pregnant mother underwent an organ transplant. Abstract : What's already known about this topic? Non‐invasive prenatal testing (NIPT) is overall a very accurate predictor of the sex of the fetus during pregnancy. Inaccurate sex determination can usually be attributed to technical mistakes and exceptional cases of sex reversal. In transplant recipients, circulating cell‐free DNA found in plasma contains graft‐derived DNA belonging to the donor's genome. What does this study add? Discordant results between NIPT and ultrasound screening may occur in organ transplant recipients following sequencing of plasma cell‐free DNA. Graft‐derived cell‐free DNA released into the maternal circulation is another rare cause of atypical genomic profiles identified by NIPT.