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Maternal 47,XX,i(X)(q10) as a cause of false positive sex chromosome aneuploidy in noninvasive prenatal screening
Author(s) -
DeMaio Alison,
Green Andrew,
Daly Sean
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4838
Subject(s) - aneuploidy , karyotype , prenatal diagnosis , obstetrics , fetus , chromosome , genetic counseling , medicine , genetic testing , pregnancy , gynecology , biology , genetics , gene
What's Already Known About This Topic? Noninvasive prenatal screening (NIPS) has been shown to be a highly accurate tool for prenatal detection of aneuploidy, without risk to the fetus Less is the accuracy of NIPS for the detection of sex chromosome aneuploidies (SCAs) Reduced accuracy in diagnosis of SCA has been attributed to placental mosaicism It is probable that some false‐positive diagnoses of sex chromosome aneuploidy are because of abnormal maternal karyotypeWhat Does This Study Add? This is a case of abnormal maternal karyotype that leads to a false‐positive result for fetal sex chromosome aneuploidy Two laboratories interpreted samples from the mother differently, with utilization of unique data analysis methods This underscores the importance of how NIPS results are reported and genetic counseling that must follow Caution is advised when acting upon positive results to avoid exposing fetuses to potentially harmful testing