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父母拷贝数变异对无创产前检测（NIPT）的潜在影响：两例病例报告

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports.

作者信息

Qi Yiming, Yang Jiexia, Hou Yaping, Hu Rong, Wang Dongmei, Peng Haishan, Yin Aihua

机构信息

Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China.

Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China.

出版信息

Mol Cytogenet. 2020 May 25;13:18. doi: 10.1186/s13039-020-00485-3. eCollection 2020.

DOI:10.1186/s13039-020-00485-3
PMID:32508984
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7249382/
Abstract

BACKGROUND

Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology. However, the clinical utility and validity of this screening for CNVs are still unknown. Here, we discuss some special conditions in which both cases simultaneously exhibited false positives caused by maternal CNVs and false negatives due to limitations of the technology.

CASE PRESENTATION

In case 1, NIPT indicated a 1.1 Mb deletion at 21q21.1, but the umbilical cord for array CGH (aCGH) revealed a 422 kb deletion at 15q13.3. Peripheral blood of the parents for aCGH showed a 1.1 Mb deletion at 21q21.1 in the mother's sample, and the same deletion at 15q13.3 was detected in the father's blood. In case 2, NIPT showed a 1.5 Mb deletion at 22q11.21, but aCGH of amniocytes revealed a 1.377 Mb duplication rather than a 1.5 Mb deletion at 22q11.21. Furthermore, aCGH analysis of the parental blood revealed a 647 kb deletion at 22q11.21 in the mother and a 2.8 Mb duplication of 22q11.21 in the father.

CONCLUSIONS

Our findings not only highlight the significance of diagnostic testing following a positive cfDNA sequencing result but also the necessity for additional analytical and clinical validation before routine use in practice.

摘要

背景

拷贝数变异（CNV）导致的小亚染色体缺失和重复现在可以通过无创产前检测（NIPT）技术检测到。然而，这种CNV筛查的临床实用性和有效性仍然未知。在此，我们讨论了一些特殊情况，即两例均同时出现由母体CNV引起的假阳性以及由于技术限制导致的假阴性。

病例报告

病例1中，NIPT显示21q21.1处有1.1 Mb的缺失，但用于比较基因组杂交芯片（aCGH）检测的脐带血显示15q13.3处有422 kb的缺失。父母外周血的aCGH检测显示母亲样本中21q21.1处有1.1 Mb的缺失，父亲血液中检测到15q13.3处有相同的缺失。病例2中，NIPT显示22q11.21处有1.5 Mb的缺失，但羊水细胞的aCGH检测显示22q11.21处是1.377 Mb的重复而非1.5 Mb的缺失。此外，父母外周血的aCGH分析显示母亲22q11.21处有647 kb的缺失，父亲22q11.21处有2.8 Mb的重复。

结论

我们的研究结果不仅强调了cfDNA测序结果呈阳性后进行诊断性检测的重要性，还强调了在实际临床常规应用前进行额外分析和临床验证的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4352/7249382/d8f1110e5040/13039_2020_485_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4352/7249382/f3354b90b4ed/13039_2020_485_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4352/7249382/edea3fe85db1/13039_2020_485_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4352/7249382/d8f1110e5040/13039_2020_485_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4352/7249382/f3354b90b4ed/13039_2020_485_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4352/7249382/edea3fe85db1/13039_2020_485_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4352/7249382/d8f1110e5040/13039_2020_485_Fig3_HTML.jpg

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The significance of trisomy 7 mosaicism in noninvasive prenatal screening.三体 7 嵌合体在无创性产前筛查中的意义。
Hum Genomics. 2019 Apr 11;13(1):18. doi: 10.1186/s40246-019-0201-y.
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Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies.
对 8141 例单胎妊娠进行染色体非整倍体和亚染色体微缺失/微重复的无创性产前检测。
Hum Genomics. 2019 Mar 12;13(1):14. doi: 10.1186/s40246-019-0198-2.
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