Non‐invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly

Benn, Peter; Cuckle, Howard; Pergament, Eugene

doi:10.1002/uog.11083

Cited by 32 publications

(24 citation statements)

References 24 publications

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“…The high negative predictive values (>99%) associated with test performance have already translated to a significant reduction in invasive procedures (74). Despite initial concerns that the test might perform differently in all-risk populations of pregnant women (75), the evidence suggests otherwise (48–50). There are, however, still concerns that there are relatively high percentages of test failures.…”

Section: Discussionmentioning

confidence: 99%

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

2014

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BACKGROUND Over the past 2 years, noninvasive prenatal testing (NIPT), which uses massively parallel sequencing to align and count DNA fragments floating in the plasma of pregnant women, has become integrated into prenatal care. Professional societies currently recommend offering NIPT as an advanced screen to pregnant women at high risk for fetal aneuploidy, reserving invasive diagnostic procedures for those at the very highest risk. CONTENT In this review, we summarize the available information on autosomal and sex chromosome aneuploidy detection. Clinical performance in CLIA-certified, College of American Pathology–accredited laboratories appears to be equivalent to prior clinical validation studies, with high sensitivities and specificities and very high negative predictive values. The main impact on clinical care has been a reduction in invasive procedures. Test accuracy is affected by the fetal fraction, the percentage of fetal DNA in the total amount of circulating cell-free DNA. Fetal fraction is in turn affected by maternal body mass index, gestational age, type of aneuploidy, singleton vs multiples, and mosaicism. Three studies comparing NIPT to serum or combined screening for autosomal aneuploidy all show that NIPT has significantly lower false-positive rates (approximately 0.1%), even in all-risk populations. A significant number of the discordant positive cases have underlying biological reasons, including confined placental mosaicism, maternal mosaicism, cotwin demise, or maternal malignancy. SUMMARY NIPT performs well as an advanced screen for whole chromosome aneuploidy. Economic considerations will likely dictate whether its use can be expanded to all risk populations and whether it can be applied routinely for the detection of subchromosome abnormalities.

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Section: Discussionmentioning

confidence: 99%

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

2014

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“…In lower‐risk women, the proportion of false–positives would be higher. These numbers, which are for illustrative purposes only, show why NIPT for aneuploidy should not be considered fully diagnostic …”

Section: Discussionmentioning

confidence: 99%

Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing

et al. 2013

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“…One possible explanation would be that some women were interested in whether their pregnancy was affected by other chromosomal abnormalities in addition to trisomies 21, 18 and 13. It is estimated that a significant proportion of pregnancies have fetal aneuploidy other than trisomies 21, 18 and 13 [20,21,22]. Pregnant women may only express an interest in knowing about trisomy 21, since that is what they are most familiar with, when in reality they may want information about any chromosomal abnormality including the detection of chromosomal inversion, deletion, balanced and unbalanced translocations currently detected by IPD-based tests.…”

Section: Discussionmentioning

confidence: 99%

Patient's Choice between a Non-Invasive Prenatal Test and Invasive Prenatal Diagnosis Based on Test Accuracy

et al. 2013

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Objective: To assess how pregnant women choose between a non-invasive DNA test (NIDT) and an invasive prenatal test (IPD) based on the accuracy of the test. Materials and Methods: Pregnant women who attended for first-trimester combined screening assessment of risk of Down syndrome were invited to participate in an interviewer-administered survey. Women were asked to choose between NIDT (variable detection rate but no miscarriage risk) and IPD (∼100% detection rate but 0.5-1% miscarriage risk) if their screening test was positive for Down syndrome using the standard gamble technique. Results: 358 women were approached of which 106 (29.6%) were unwilling to participate in the study as it had already been decided in advance which additional test they would have if they were screened positive. Of these 106 women, 70 (19.6%) would only choose IPD whereas 36 (10%) would only choose NIDT. Among those who agreed to undertake the gamble and participate in the study (n = 252), 50% were willing to accept NIDT as an alternative to IPD provided that NIDT had a detection rate of 95%. Conclusion: The majority can accept NIDT as an alternative to IPD provided that the test is 95% accurate in the diagnosis of Down syndrome. Current evidence indicates that the detection rate of NIDT will be higher than this level. Health professionals should consider NIDT as an alternative to IPD when counseling women with a positive screening test.

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Non‐invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly

Cited by 32 publications

References 24 publications

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing

Patient's Choice between a Non-Invasive Prenatal Test and Invasive Prenatal Diagnosis Based on Test Accuracy

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