Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2024-10-01 Epub Date: 2024-05-23 DOI:10.1002/pd.6595

Sanne P Smeekens, Maike Leferink, Helger G Yntema, Erik-Jan Kamsteeg

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引用次数: 0

Abstract

Objective: Maternal cell contamination (MCC) poses a risk for misdiagnosis in prenatal genetic testing, and is examined in accredited diagnostic laboratories However, the awareness of possible MCC in perinatal/postnatal genetic testing, mainly of umbilical cord blood (CB), is lower.

Method: We investigated the rate of MCC in DNA from both umbilical CB samples and umbilical cord samples that were sent to our diagnostic laboratory for diagnostic testing between 1995 and 2021 (n = 236).

Results: MCC was detected in 4% of umbilical CB samples, and in one umbilical cord sample. Particularly tests enriching for a specific variant are very sensitive for low amounts of MCC, as we emphasize here with a false positive diagnosis of myotonic dystrophy type 1 in a newborn.

Conclusions: Overall, with appropriate collection and use, umbilical CB and umbilical cord samples are suitable for genetic testing based on the low rates of MCC and misdiagnosis. These findings do however underline the importance of routine MCC testing in umbilical CB samples and umbilical cord samples for both requesting clinicians and diagnostic genetic laboratories.

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产后脐带血样本中的母体细胞污染意味着基因误诊的风险很低。

目的：在产前基因检测中，母细胞污染（MCC）有可能造成误诊，并在获得认证的诊断实验室中进行检查。然而，人们对围产期/产后基因检测（主要是脐带血（CB））中可能出现的母细胞污染的认识却较低：方法：我们调查了 1995 年至 2021 年间送至本诊断实验室进行诊断检测的脐带血样本和脐带样本 DNA 中的 MCC 发生率（n = 236）：结果：4%的脐带 CB 样本和一个脐带样本中检测到了 MCC。特别是富含特定变异体的检测对低量的 MCC 非常敏感，正如我们在这里强调的新生儿肌营养不良 1 型的假阳性诊断：总体而言，只要采集和使用得当，脐带 CB 样本和脐带样本都适合用于基因检测，因为它们的 MCC 和误诊率都很低。然而，这些发现确实强调了对脐带 CB 样本和脐带样本进行常规 MCC 检测对申请临床医生和基因诊断实验室的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling