Christopher J McNamara1, Laura A Limone, Thomas Westover, Richard C Miller. 1. Departments of Obstetrics and Gynecology, Saint Barnabas Medical Center, Livingston, Cooper University Hospital, Camden, and New Jersey Medical School, Rutgers University, Newark, and New Jersey Perinatal Associates, Livingston, New Jersey; and Saint George's University School of Medicine, Grenada, West Indies.
Abstract
BACKGROUND: The intent of noninvasive prenatal testing is to screen for fetal aneuploidies. The assumption is that overrepresented and underrepresented chromosomes are of fetal origin. However, this is not always the case. CASES: We report three cases in which maternal sex chromosome aneuploidy (confirmed by karyotype), two cases of which were previously unknown, resulted in false-positive results. In each, results were positive for fetal aneuploidy, but neonatal karyotypes confirmed normal karyotype. CONCLUSION: Noninvasive prenatal testing assesses the proportion of chromosomes 21, 18, 13, and sex chromosomes in maternal circulation. Intrinsic to the analysis is that the underrepresentations and overrepresentations are of fetal origin. We present three cases in which this assumption is not valid. We suggest that maternal sex chromosome aneuploidy be considered when results suggest fetal sex chromosome aneuploidies.
BACKGROUND: The intent of noninvasive prenatal testing is to screen for fetal aneuploidies. The assumption is that overrepresented and underrepresented chromosomes are of fetal origin. However, this is not always the case. CASES: We report three cases in which maternal sex chromosome aneuploidy (confirmed by karyotype), two cases of which were previously unknown, resulted in false-positive results. In each, results were positive for fetal aneuploidy, but neonatal karyotypes confirmed normal karyotype. CONCLUSION: Noninvasive prenatal testing assesses the proportion of chromosomes 21, 18, 13, and sex chromosomes in maternal circulation. Intrinsic to the analysis is that the underrepresentations and overrepresentations are of fetal origin. We present three cases in which this assumption is not valid. We suggest that maternal sex chromosome aneuploidy be considered when results suggest fetal sex chromosome aneuploidies.
Authors: Marco La Verde; Luigia De Falco; Annalaura Torella; Giovanni Savarese; Pasquale Savarese; Raffaella Ruggiero; Anna Conte; Vera Fico; Marco Torella; Antonio Fico Journal: BMC Med Genomics Date: 2021-03-30 Impact factor: 3.063