Pregnancy: Prepare for unexpected prenatal test results

Bianchi, Diana W.

doi:10.1038/522029a

Cited by 56 publications

(37 citation statements)

References 9 publications

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“…The NIPT method is currently implemented in more than 90 countries worldwide. Globally, approximately 200 000 tests were performed in 2012, 400 000 in 2013, and 800 000 in 2014; by 2015, more than 2 million tests had been implemented . It is reasonable to assume that the culture and attitude towards prenatal diagnosis have encouraged the country‐wise prevalence of NIPT in each countries.…”

Section: Current Status and Future Of Niptmentioning

confidence: 99%

Current status of non‐invasive prenatal testing in Japan

Samura

Sekizawa

Suzumori

et al. 2017

J of Obstet and Gynaecol

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Aim The purpose of this study was to report the 3‐year experience of a nationwide demonstration project to introduce non‐invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. Methods Tests were conducted to detect aneuploidy in high‐risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta‐analyses. Results From April 2013 to March 2016, 30 613 tests were conducted at 55 medical sites participating in a multicenter clinical study. Among the 30 613 women tested, 554 were positive (1.81%) and 30 021 were negative (98.1%) for aneuploidy. Of the 289, 128, and 44 women who tested positive for trisomies 21, 18, and 13, respectively, and underwent definitive testing, 279 (96.5%), 106 (82.8%), and 28 (63.6%) were determined to have a true‐positive result. For the 13 481 women with negative result and whose progress could be traced, two had a false‐negative result (0.02%). The tests were performed on the condition that a standard level of genetic counseling be provided at hospitals. Conclusion Here, we report on the 3‐year nationwide experience with NIPT in Japan. It is important to establish a genetic counseling system to enable women to make informed decisions regarding prenatal testing. Moreover, a welfare system is warranted to support women who decide to give birth to and raise children with chromosomal diseases.

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Section: Current Status and Future Of Niptmentioning

confidence: 99%

Current status of non‐invasive prenatal testing in Japan

Samura

Sekizawa

Suzumori

et al. 2017

J of Obstet and Gynaecol

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“…This result was found to be due to maternal acute myeloid leukemia with multiple cytogenetic abnormalities. Though other cases of false positive results on noninvasive prenatal screening that were attributable to cancer have been reported, 1–3 these results have not implicated leukemia specifically. Cases such as this one underscore the complexity of interpretation of noninvasive prenatal screening, given the potential of cfDNA to derive from multiple sources and therefore to reflect either true fetal genetic factors, confined placental mosaicism, or a maternal condition, including cancer or a previously unrecognized maternal genetic condition.…”

Section: The Authors Replymentioning

confidence: 70%

Copy-Number Variation and False Positive Results of Prenatal Screening

2015

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“…In addition, only a few IC discussed genetic information that cfDNA screening can reveal about a parent, information that may take many patients by surprise. Many patients and clinicians alike were surprised to hear news reports that cfDNA screening may reveal tumors or cancer in the pregnant woman, information that was not included in any IC in our sample; though these reports were published after the documents in our sample were collected, multiple laboratories had for some time been aware of this capability and were collecting data (and sometimes returning information to clinicians) about this phenomenon (49). Overall, though many IC mentioned the benefits of cfDNA screening, few discussed these informational risks, and information about psychosocial issues—such as anxiety or termination decision-making—was notably absent from nearly all IC.…”

Section: Discussionmentioning

confidence: 99%

Informed decision-making about prenatal cfDNA screening: An assessment of written materials

Michie

Kraft

Minear

et al. 2016

Ethics, Medicine and Public Health

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Objectives The introduction of prenatal cfDNA screening for fetal aneuploidy and other genetic conditions has exacerbated concerns about informed decision-making in clinical prenatal testing. To assess the information provided to patients to facilitate decisions about cfDNA screening, we collected written patient education and consent documents created by laboratories and clinics. Methods Informed consent documents (IC) were coded by two independent coders. Each IC was assessed for readability, attention to elements of informed consent, and completeness of information about the test and the screened conditions. Results We found variance between IC produced by commercial laboratories versus those provided by local clinics or health care systems, and considerable variance among materials from all sources. “Commercial” IC were longer and written at a more difficult reading level than “non-commercial” IC, and were less likely to state explicitly that cfDNA only screens for certain conditions. About one-third of IC were combined with laboratory order forms. Though most IC recommended confirmatory testing for positive results, only about half clearly stated that results could be incorrect—including mentions of false positives or false negatives. About one-third of IC explicitly stated that cfDNA screening was optional. While nearly all IC from any source listed the conditions screened by the test, only about half of the IC included any phenotypic descriptions of these conditions. Few IC mentioned psychosocial considerations, and only one IC mentioned the availability of support groups for families of children with genetic conditions. Conclusions Based on our findings, we recommend that written and well-informed consent be sought before performing cfDNA screening, and we offer minimal and recommended standards for patient education and consent materials.

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Pregnancy: Prepare for unexpected prenatal test results

Cited by 56 publications

References 9 publications

Current status of non‐invasive prenatal testing in Japan

Current status of non‐invasive prenatal testing in Japan

Copy-Number Variation and False Positive Results of Prenatal Screening

Informed decision-making about prenatal cfDNA screening: An assessment of written materials

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