无创产前检查检测多发性骨髓瘤。

Katherine A Devitt, Juli-Anne Gardner
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摘要

目的:无创产前检测(NIPT)已成为一种广泛使用的筛查方法,利用从母体血液中获得的无细胞胎儿DNA (cffDNA)检测胎儿非整倍体。它是非侵入性的,高度敏感和特异性,可以在怀孕的前三个月提供。虽然NIPT的目的是检测胎儿DNA的异常,但偶尔也会检测到与胎儿无关的异常。肿瘤DNA充满异常,NIPT很少在母亲中检测到隐匿性恶性肿瘤。妊娠期母体恶性肿瘤相对罕见,估计为千分之一。我们提出一例38岁的女性诊断为多发性骨髓瘤后,异常NIPT测试结果。
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Multiple Myeloma Detected by Noninvasive Prenatal Testing.

Objectives: Noninvasive prenatal testing (NIPT) has become a widely used screening method to detect fetal aneuploidies using cell-free fetal DNA (cffDNA) obtained from maternal blood. It is noninvasive, highly sensitive and specific, and can be offered in the first trimester of pregnancy. Though the goal of NIPT is to detect abnormalities in fetal DNA, occasionally abnormalities are detected that are not attributable to the fetus. Tumor DNA is laden with abnormalities and, rarely, NIPT has detected occult malignancy in the mother. Maternal malignancy in pregnancy is relatively uncommon, estimated at 1 in 1,000 pregnant women. We present a case of a 38-year-old woman diagnosed with multiple myeloma after abnormal NIPT testing results.

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