Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

Lewit-Mendes, Miranda F; Robson, H; Kelley, Joanne; Elliott, Justine; Brown, Erica; Menezes, Melody; Archibald, Alison D

doi:10.1002/jgc4.1635

Cited by 5 publications

(4 citation statements)

References 66 publications

(88 reference statements)

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“…31,[46][47][48][49] This potential for FP results should be addressed in pre-test counseling because it can cause parental anxiety while awaiting confirmatory diagnostic testing results and may influence emotional well-being for the remainder of the pregnancy. 38,50,51 The data from our study on the impact of fetal anomalies on the confirmation rate of high-risk cfDNA screening results for monosomy X are useful for pre-and posttest counseling, and knowledge about fetal anomalies can help direct the choice of confirmatory genetic testing.…”

Section: Discussionmentioning

confidence: 89%

Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants

et al. 2023

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Objective We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell‐free DNA (cfDNA) screening results for monosomy X. Methods From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X‐chromosome variant. Results We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high‐risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X‐chromosome variants. All 16 fetuses with high‐risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with “variant” karyotypes had different anomalies. Conclusion Both, 45,X or X‐chromosome variants can be detected after a high‐risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X‐chromosome variant.

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Section: Discussionmentioning

confidence: 89%

Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants

et al. 2023

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“…With an abnormal ultrasound and a high chance NIPT result for monosomy X, the PPV may be over 85% (14/16) 68 . Expert pretest counseling and consent is recommended when offering NIPT for SCA, with expert post‐test counseling if a high chance result is returned 69 …”

Section: Sex Chromosome Aneuploidy and Fetal Sex Determinationmentioning

confidence: 99%

“…68 Expert pretest counseling and consent is recommended when offering NIPT for SCA, with expert post-test counseling if a high chance result is returned. 69 The ethical issues around screening for the SCA and determining fetal sex for nonmedical reasons are covered in detail by Johnston et al 70 While many of these ethical issues are not unique to the sex chromosomes, the prenatal detection of SCAs is more controversial than the autosomal trisomies because of their wide phenotypic spec-…”

Section: Sex Chromosome Aneuploidy and Fetal Sex Determinationmentioning

confidence: 99%

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Hui

Ellis

Mayen³

et al. 2023

Prenatal Diagnosis

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Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on the use of non‐invasive prenatal testing (NIPT) to screen for aneuploidy. Widespread uptake across the globe and subsequent published research has shed new light on test performance and implementation issues. What does this study add? This new position statement replaces the 2015 statement with updated information on the current technologies, clinical experience, and implementation practices. As an international organization, ISPD recognizes that there are important population‐specific considerations in the organization of prenatal screening and diagnosis. These opinions are designed to apply to high income settings where prenatal screening for aneuploidy is an established part of antenatal care. This position statement is not a clinical practice guideline but represents the consensus opinion of the current ISPD Board based on the current state of knowledge and clinical practice.

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“…Moreover, as outlined in the next chapter, the interpretations of NIPT results are either not really understood in detail and/or at the least not well communicated [ 14 , 18 ]. Further compounding the issue, the advantages, and restrictions of NIPT may be unknown to both the MDs ordering the test, and the pregnant women taking the test [ 24 ].…”

Section: Nipt and Its Advantagesmentioning

confidence: 99%

Non-Invasive Prenatal Testing in Germany

et al. 2022

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In the short 10 years following the introduction of non-invasive prenatal testing (NIPT), it has been adapted in many countries around the world as a standard screening test. In this review, this development was analyzed with a special focus on Germany. As a result, it can be stated that all known advantages of NIPT apart from “compensating for having no access to centers offering invasive diagnostics” are valid for Germany. In addition, following a review of the international literature, all documented issues with NIPT are also observed in Germany. However, the German Gene Diagnostics Act (GenDG) addresses a number of these issues, for example, the regulations by GenDG hamper induced abortions, based exclusively on an abnormal NIPT result. At the same time, GenDG has created new problems, as a possible collusion between the “right not to know with regard to parts of the examination result” may occur, or that the sex of the fetus must not be reported to the pregnant woman before the 12th week of gestation. Main conclusions drawn are that appropriate training and the continuing education of the physicians providing NIPT-related counseling are needed, as well as the provision of balanced and comprehensive information for the pregnant woman or the couple that is imperative.

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Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

Cited by 5 publications

References 66 publications

Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants

Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Non-Invasive Prenatal Testing in Germany

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