无创产前检测中胎儿性染色体非整倍体假阳性的母体来源
Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing.
作者信息
McNamara Christopher J, Limone Laura A, Westover Thomas, Miller Richard C
机构信息
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.
出版信息
Obstet Gynecol. 2015 Feb;125(2):390-392. doi: 10.1097/AOG.0000000000000547.
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.
背景
无创产前检测的目的是筛查胎儿非整倍体。其假设是染色体数量过多或过少的情况源自胎儿。然而，情况并非总是如此。
病例
我们报告了三例母体性染色体非整倍体（经核型分析确认）导致假阳性结果的病例，其中两例此前未知。每例中，胎儿非整倍体检测结果均为阳性，但新生儿核型分析证实核型正常。
结论
无创产前检测评估母体循环中21、18、13号染色体及性染色体的比例。该分析的内在假设是染色体数量的过多或过少源自胎儿。我们呈现了三例该假设不成立的病例。我们建议当检测结果提示胎儿性染色体非整倍体时，应考虑母体性染色体非整倍体的情况。
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