Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.

Mayo S, Gómez-Manjón I, Atencia G, Moreno-Izquierdo A, Escribano D, Fernández-Martínez FJ. Eur J Obstet Gynecol Reprod Biol. 2022;272:150-155. doi:10.1016/j.ejogrb.2022.03.027.

Tags: Case Report / Case Series, 2022, International, CNVs

  • “We report a detection of 44.7 Mb duplication at 11p15.5-p11.2 by NIPT with a fetal fraction (FF) of only 3%. This chromosome abnormality was confirmed after amniocentesis by karyotyping and array comparative genomic hybridization on cultured fetal cells. Further parental investigation showed that the fetal chromosome abnormality was inherited from the mother who was a carrier of a balanced translocation 46,XX,t(11;X)(p11.2;q28). This case highlights the importance of expanded NIPT in the detection of fetal segmental aneuploidy. NIPT together with complementary studies can lead to the detection of parental chromosome rearrangement despite a low FF, which can impact the couple’s reproductive plans. We also reviewed other cases with chromosome rearrangement, detected by NIPT, derived from a parental reciprocal translocation.”