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

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.

SUBMITTER: Qi Y

PROVIDER: S-EPMC7249382 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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

Qi Yiming Y Yang Jiexia J Hou Yaping Y Hu Rong R Wang Dongmei D Peng Haishan H Yin Aihua A

Molecular cytogenetics 20200525

<h4>Background</h4>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.<h4>Case presentation</h4>In case 1, NIPT indicate ...[more]

PMID: 32508984

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Project description:BackgroundNoninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center.MethodsA total of 24,702 pregnant women were retrospectively analyzed at the Women and Children's Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes.ResultsOf the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38-100%), 96.67%(95%CI, 82.78-99.92%), and 100%(95%CI, 66.37-100.00%), and the specificity was 99.92%(95%CI, 99.87-99.96%), 99.96%(95%CI, 99.91-99.98%), and 99.88% (95%CI, 99.82-99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs.ConclusionsOur study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.

Project description:BackgroundNon-invasive prenatal testing (NIPT) allows women to access genetic information about their fetuses without the physical risk inherent to prior testing methods. The advent of NIPT technology has led to concerns regarding the quality and process of informed consent, as a view of NIPT as "routine" could impair women's considered approach when choosing to undergo testing. Prior studies evaluating NIPT decision-making have focused on the clinical encounter as the primary environment for acquisition of biomedical information and decision formation. While important, this conceptualization fails to consider how additional sources of knowledge, including embodied and empathetic experiential knowledge, shape perceptions of risk and the societal use of NIPT.MethodsIn order to address this issue, qualitative, semi-structured interviews with 25 women who had been offered NIPT were performed. Participants came from a well-resourced, rural setting near a major academic medical center in the US. Women were categorized by NIPT use/non-use as well as whether their described decision-making process was perceived as making a significant decision requiring contemplation ("significant") versus a rapid or immediate decision ("routinized"). A constructivist general inductive approach was used to explore themes in the data, develop a framework of NIPT decision-making, and compare the perceptions of women with differential decision-making processes and outcomes.ResultsA framework for decision-making regarding NIPT was developed based on three emergent factors: perceptions of the societal use of NIPT, expected emotional impact of genetic information, and perceived utility of genetic information. Analysis revealed that perceptions of widespread use of NIPT, pervasive societal narratives of NIPT use as "forward-thinking," and a perception of information as anxiety-relieving contributed to routinized uptake of NIPT. In contrast, women who displayed a lack of routinization expressed fewer stereotypes regarding the audience for NIPT and relied on communication with their social networks to consider how they might use the information provided by NIPT.ConclusionsThe findings of this study reveal the societal narratives and perceptions that shape differential decision-making regarding NIPT in the U.S.ContextUnderstanding and addressing these perceptions that influence NIPT decision-making, especially routinized uptake of NIPT, is important as the use and scope of this technology increases.

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

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

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