Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening

Sagaser, Katelynn G.; Stevens, Blair; Davis, J R; Ramdaney, Aarti

doi:10.1002/pd.5264

Cited by 4 publications

(4 citation statements)

References 9 publications

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“…One was identified as 47,XYY, while the other 2 were sex chromosome tetrasomy and pentasomy conditions. It should be noted that most laboratories are not validated to report sex chromosome tetrasomies or pentasomies, and thus, clinicians should be aware of the possibility of a different, more severe diagnosis . We had 1 case of sex chromosome tetrasomy reported on NIPT that was confirmed with postnatal karyotype.…”

Section: Discussionmentioning

confidence: 99%

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making

et al. 2018

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Section: Discussionmentioning

confidence: 99%

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making

et al. 2018

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“…An exception is given for karyotypes with more than three X chromosomes (i.e., for example 48,XXXX or 49,XXXXY) when mental retardation becomes considerably prevalent. Current tests are not evaluated for detection of these severe anomalies, and they may “hide behind” a positive NIPT result [ 64 , 65 ].…”

Section: Cfdna-based Screening (Nipt) Other Than Chromosomes 21 18 and 13mentioning

confidence: 99%

Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review

Bedei

Wolter

Weber

et al. 2021

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In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has been applied since the 1960s by using maternal age as the risk parameter. Since then, several advances have been made. First trimester screening, combining maternal age, maternal serum parameters and ultrasound findings, emerged in the 1990s with a detection rate (DR) of around 90–95% and a false positive rate (FPR) of around 5%, also looking for trisomy 13 and 18. With the development of high-resolution ultrasound, around 50% of fetal anomalies are now detected in the first trimester. Non-invasive prenatal testing (NIPT) for trisomy 21, 13 and 18 is a highly efficient screening method and has been applied as a first-line or a contingent screening approach all over the world since 2012, in some countries without a systematic screening program. Concomitant with the rise in technology, the possibility of screening for other genetic conditions by analysis of cfDNA, such as sex chromosome anomalies (SCAs), rare autosomal anomalies (RATs) and microdeletions and duplications, is offered by different providers to an often not preselected population of pregnant women. Most of the research in the field is done by commercial providers, and some of the tests are on the market without validated data on test performance. This raises difficulties in the counseling process and makes it nearly impossible to obtain informed consent. In parallel with the advent of new screening technologies, an expansion of diagnostic methods has begun to be applied after invasive procedures. The karyotype has been the gold standard for decades. Chromosomal microarrays (CMAs) able to detect deletions and duplications on a submicroscopic level have replaced the conventional karyotyping in many countries. Sequencing methods such as whole exome sequencing (WES) and whole genome sequencing (WGS) tremendously amplify the diagnostic yield in fetuses with ultrasound anomalies.

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“…Postnatal testing was chosen more frequently for XXX, XXY, and XYY cases, suggesting women in our study were more inclined to continue these pregnancies without diagnostic testing. An important genetic counseling consideration is that a small proportion of fetuses may have a different and/or potentially more severe SCA than indicated by the cfDNA screening result, [43][44][45] which should be discussed when considering diagnostic testing. 46 Three examples were identified in our cohort.…”

Section: Discussionmentioning

confidence: 99%

Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening

et al. 2023

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Objectives: To evaluate the performance of cell-free DNA (cfDNA) screening for common fetal aneuploidies, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cfDNA screening.Method: A single-center prenatal cfDNA screening test was employed to detect trisomies 21, 18, and 13 (T21, T18, T13) and sex chromosome aneuploidies (SCAs).Test performance, choice of prenatal procedure, and cytogenetic results in pregnancies with low-risk cfDNA screening were reviewed.Results: CfDNA screening of 38,289 consecutive samples identified 720 (1.9%) pregnancies at increased risk for aneuploidy. Positive predictive values (PPVs) for high-risk singleton pregnancies were 98.5% (T21), 92.5% (T18) and 55.2% (T13).PPVs for SCAs ranged from 30.6% to 95.2%. Most women elected chorionic villus sampling for prenatal diagnosis of T21, T18 and T13; amniocentesis and/or postnatal testing were commonly chosen for SCAs. Cytogenetic tests from 616 screennegative pregnancies identified 64 cases (12.7%) with chromosome conditions not detected by cfDNA screening, including triploidy (n = 30) and pathogenic and likely pathogenic copy number variants (n = 34). A further 15 (0.04%) false-negative common aneuploidy results were identified.Conclusions: CfDNA screening was highly accurate for detecting fetal aneuploidy in this general-risk obstetric population. Fetal ultrasound and prenatal diagnostic testing were important in identifying chromosome conditions in pregnancies screened as low-risk. Key pointsWhat's already known about this topic? � Prenatal cell-free DNA (cfDNA) screening for common autosomal trisomies has high sensitivity and specificity. Fewer data are available for sex chromosome aneuploidies (SCAs), which show greater variability in screening performance.

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Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening

Cited by 4 publications

References 9 publications

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making

Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review

Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening

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