Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

Hui, Lisa; Hutchinson, Briohny; Poulton, Alice; Halliday, Jane

doi:10.1038/gim.2017.55

Cited by 65 publications

(94 citation statements)

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“…The overall decline in amniocentesis and CVS observed over the past decade in our population has been reported in detail previously . A major contributing factor to this decline in diagnostic testing is the increasing uptake of NIPT and the subsequent reduction in false positive trisomy 21 screening results.…”

Section: Discussionsupporting

confidence: 67%

“…Despite the inclusion of SCA in the majority of NIPT panels offered in Victoria, SCAs made up a smaller proportion of total chromosomal abnormalities diagnosed via invasive testing in the NIPT era compared with previously. This was due to the concurrent rise in the detection of autosomal aneuploidies and pathogenic copy number variants over the same period …”

Section: Discussionmentioning

confidence: 99%

“…Pathogenic CNVs have previously been defined as those that encompass a region implicated in a well‐described abnormal phenotype . Minor chromosome abnormalities were balanced rearrangements and CNVs of uncertain or unknown significance (VOUS) …”

Section: Methodsmentioning

confidence: 99%

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Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing

et al. 2018

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Objective To assess the impact of non‐invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births. Method Retrospective population‐based cohort study from 1986–2016 of all women undergoing prenatal diagnosis before 25 weeks gestation in the Australian state of Victoria. Statistical significance was tested using the chi‐square test for trend or proportions. Results There were 2,043,345 births and 842 SCA diagnoses from 1986–2016. The percentage of prenatal diagnostic tests leading to a SCA diagnosis increased significantly from 0.95% in 2010 to 2.93% in 2016 (p < 0.001) but due to a concurrent decline in testing, the annual prenatal diagnosis rate of SCA remained stable at 4.4/10,000 births. Among confirmed fetal SCAs the most common indication for testing in 1986 was advanced maternal age (63%); in 2016 it was high risk NIPT (49%). Conclusion SCAs now make up an increasing proportion of prenatal diagnostic results but due to the overall decline in diagnostic testing, the prenatal prevalence as a percentage of births remained steady. The ascertainment of fetal SCA has evolved from an incidental finding after testing for increased risk of trisomy 21, to a diagnosis obtained after suspected SCA on NIPT.

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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

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Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing

et al. 2018

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“…Furthermore, this trend is largely driven by an increase in major chromosome abnormalities other than trisomy 21 (52% of abnormalities in 2015) (Figure B). These other abnormalities included trisomy 18 (11%), pathogenic CNVs (10%), level III mosaicism (9%), sex chromosome abnormalities (7%), triploidy (4%), and trisomy 13 (4%) . When the state cohort of 100,418 women undergoing CFTS during the years 2014 to 2015 was analysed, 90% of major chromosome abnormalities not detectable by standard cfDNA (ie other than trisomies 21, 18, and 13 and sex chromosome abnormalities) would have been detected if diagnostic testing was performed in women with CFTS risk >1 in 100, serum PaPP‐A or beta‐HCG <0.2 MoM, or fetal abnormality on first or second trimester ultrasound …”

Section: Have Women Really “Paid a Price” For Embracing Cfdna?mentioning

confidence: 99%

“…Therefore, in our population, women have reaped the benefits of advances in both screening (CFTS +/or cfDNA + ultrasound) and diagnostic testing (CMA), although the benefits of cfDNA may not be equitably distributed across all socioeconomic groups . These complementary—not competing—advances have resulted in record yields from diagnostic testing: In the most recent published data, only 5 diagnostic tests were needed to detect each major chromosome abnormality . In fact, it could be argued that the “price” of performing fewer diagnostic tests has actually been borne by the medical profession via its downstream effect on training, skills maintenance, and clinical practice volume …”

Section: Have Women Really “Paid a Price” For Embracing Cfdna?mentioning

confidence: 99%

What is the real “price” of more prenatal screening and fewer diagnostic procedures? Costs and trade‐offs in the genomic era

Hui

Norton

2018

Prenatal Diagnosis

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Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities-in fact, we are now seeing historically high yields from prenatal screening. There are both economic and ethical consequences of offering universal diagnostic testing and abandoning the presumption of a normal infant in otherwise uncomplicated pregnancies. However, for some women, comprehensive information and diagnostic accuracy are important. Offering these women all options, with a careful and comprehensive explanation of the risks and benefits of each, results in outcomes that are best aligned with woman's preferences while at the same time requiring fewer diagnostic tests and lowering costs. It is one of the primary challenges of the modern era of prenatal testing to ensure that women receive sufficient information on which to make informed decisions.

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Foetal Diagnosis

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et al. 2018

Encyclopedia of Life Sciences

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New genetic testing approaches as well as a constant progress in the imaging technologies of the foetus have changed the practice of prenatal diagnosis during the past decade fundamentally. The greatly improved noninvasive risk assessment for common foetal aneuploidies by recent cell‐free DNA (cfDNA) testing technologies on maternal plasma (NIPT or NIPS) has been much acclaimed by pregnant women and their doctors as well and resulted in a significant decline of invasive testing requiring chorionic villus sampling or amniocentesis. Exclusion of foetal aneuploidy is still by far the most frequent indication for prenatal testing, and the growing number of options must be addressed in routine care for all pregnancies. Pregnancies at high risk for foetal aneuploidy or other copy number variations profit from high‐resolution karyotyping using chromosomal microarrays. Noninvasive prenatal diagnosis (NIPD) is established for the foetal sex or blood group markers and progressing for numerous monogenic conditions. Key Concepts Noninvasive testing of cell‐free DNA in the maternal plasma is an established screening tool for trisomy 21 and other common trisomies and has caused a significant decrease of invasive testing. Cell‐free DNA testing for common aneuploidies with current technologies will likely not become diagnostic owing to its origin from trophoblast cells. Targeted cell‐free DNA testing is a diagnostic option for a growing number of monogenic conditions. Genomic testing approaches such as symptom‐ or disease‐based gene panels or whole‐exome sequencing spread slowly into invasive as well as noninvasive prenatal testing. Genetic testing on amniotic fluid cells or placental villi is most comprehensive and accurate and remains the gold standard of foetal diagnosis.

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Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

Cited by 65 publications

References 26 publications

Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing

Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing

What is the real “price” of more prenatal screening and fewer diagnostic procedures? Costs and trade‐offs in the genomic era

Foetal Diagnosis

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