Non-invasive prenatal testing (NIPT) is increasingly used in routine practice due to its high sensitivity and specificity in detecting fetal chromosomal anomalies. Several reports have highlighted that NIPT can diagnose previously unsuspected malignancy or benign copy number variation in the expectant mother. We report a case in which NIPT detected a duplication involving the 17p11.2-17p12 region with possible Potocki–Lupski syndrome in the fetus. However, on further questioning, the mother revealed that she had Charcot–Marie–Tooth neuropathy type IA (CMT1A) and thus using array CGH, we were able to confirm that the 17p duplication was maternal in origin, included only the typical CMT1A region and that the fetus had a normal chromosome complement. Although it may be rare for a mother to have a pathogenic chromosome duplication/deletion, with the expansion in scope of NIPT from classic trisomies to global chromosome coverage and monogenic conditions, more examples of fortuitous maternal diagnosis will certainly be forthcoming and this should be taken into account during pre-test genetic counseling.

由于非侵入性产前检查（NIPT）在检测胎儿染色体异常中具有很高的灵敏度和特异性，因此在常规实践中越来越多地使用。几份报告强调指出，NIPT可以诊断出先前未曾怀疑的恶性肿瘤或孕妇的良性拷贝数变异。我们报告了一个案例，其中NIPT检测到一个重复，该重复涉及17p11.2-17p12地区，可能与胎儿的Potocki–Lupski综合征有关。但是，在进一步的询问中，这位母亲透露她患有IA型Charcot–Marie–Tooth神经病（CMT1A），因此使用阵列CGH，我们能够确认17p重复起源于母体，仅包括典型的CMT1A区和胎儿具有正常的染色体补体。尽管对于母亲来说，病原体的染色体复制/缺失可能很少见，