Inconclusive prenatal sex determination in an NIPT due to probable confined placental mosaicism and the importance of amniocentesis

Abstract

Non-invasive prenatal diagnosis in maternal blood from placental has become the first-line test for the early detection of chromosomal aneuploidies. Amniocentesis remains the gold standard for the accurate diagnosis of any chromosomal aneuploidy. However, sometimes noninvasive prenatal tests can report inconclusive results which presents a dilemma for decision making. We report a case where fetal sex was inconclusive and confirmation by amniocentesis was performed on a couple.