Risk of fetal loss associated with invasive testing following combined first‐trimester screening for Down syndrome: a national cohort of 147 987 singleton pregnancies

Wulff, C. B.; Gerds, Thomas Alexander; Rode, Line; Ekelund, Charlotte Kvist; Petersen, Olav Bjørn; Tabor, Ann

doi:10.1002/uog.15820

Cited by 157 publications

(151 citation statements)

References 33 publications

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“…Women with a risk ≥ 1: 300 are offered diagnostic chorionic villus sampling or amniocentesis. These invasive testing procedures have previously been reported to carry a risk of miscarriage of up to 1% [5][6][7] , but recent studies indicate the risk is probably much lower [8,9] . The combined first-trimester screening (cFTS) for T21 has a detection rate of about 90% for a false-positive rate of about 5% [10] .…”

Section: Introductionmentioning

confidence: 99%

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

et al. 2016

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Introduction: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). Material and Methods: This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment. Cut-off for referral for invasive testing was ≥1:300. Karyotype results from pregnancies with no cFTS were obtained from the Danish Cytogenetic Central Registry. Results: The uptake rate of cFTS was 91.6%, and 82.8% (8,032/9,704) of the screen-positive women opted for invasive testing. Overall, 82.2% (454/552) chose to terminate an affected pregnancy. In the 4-year period, 102 of 232,962 singletons were born alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. Discussion: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had not opted for cFTS or were true-positive but declined invasive testing or termination, and 48.0% were born after a false-negative risk assessment.

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Section: Introductionmentioning

confidence: 99%

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

et al. 2016

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“…Upon detailed investigation in a meta-analysis and another large scale study, the miscarriage risk after CVS or AC before 24 weeks of gestation is not significantly different from patients not receiving these invasive procedures [53,54]. The estimated abortions induced by these procedures range from 0.1% to 0.2%.…”

Section: Invasive Prenatal Diagnostics In a Nipt Contextmentioning

confidence: 96%

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Harasim¹,

Rost

Klein³

2016

LaboratoriumsMedizin

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Abstract:The introduction of non-invasive prenatal testing (NIPT) into prenatal care represents a paradigm shift. With the absence of any intervention risk in contrast to invasive diagnostic procedures, NIPT has been widely adopted for the detection of fetal trisomy 13, 18 and 21. Additionally, fetal sex chromosome aneuploidy testing and sex determination are available, but can be compromised by both, medical and legal factors. Available validation studies were predominantly based on patients with a high a priori aneuploidy risk, determined by trimester screening or invasive diagnostics. In this review, we discuss the interpretation of NIPT results in context of patient specific risk constellations, the available performance data and dominant methodical approaches of NIPT including necessary content of genetic counseling.

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“…Risk figures provided from the 1980s and 1990s were the bases for defining the cutoff when a pregnant woman has to see an MD due to “advanced maternal age.” As nicely stated by Wulff et al [26], “The risk of miscarriage following CVS and AC was investigated in randomized clinical trials in the 1980s and 1990s. One study found that the risk of miscarriage after AC was increased by 1.0% compared to the risk with no invasive procedure.…”

Section: Why Avoid Invasive Prenatal Testing?mentioning

confidence: 98%

“…[…] A recent meta-analysis estimated procedure-related risks of CVS and AC to be as low as 0.2% and 0.1%, respectively [27]. ” Wulff et al [26] also found that “neither CVS nor AC was associated with increased risk of miscarriage or stillbirth.” In Table 2 we provide data that shows the same results; other studies have also confirmed these findings [28,29,30]. This reduction in pregnancy loss after invasive procedures is mainly due to the application of needles better suited for aspiration and the routine control of the procedure by sonography [28].…”

Section: Why Avoid Invasive Prenatal Testing?mentioning

confidence: 99%

Noninvasive Prenatal Testing - When Is It Advantageous to Apply

et al. 2017

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Nowadays it is common sense in obstetrics that an increased risk for pregnancy loss due to invasive testing does not exist. Nonetheless, noninvasive prenatal testing (NIPT) is a hot topic, even though this approach does not provide a reduction of unintentionally induced abortions. NIPT has a number of shortcuts which are highlighted in this review, including: (1) in NIPT placental rather than fetal DNA is studied, (2) NIPT fails in 2-6% of cases, and (3) trisomy 21 accounts for only ∼50% of existing chromosomal aberrations. Thus, we agree with the literature that NIPT is a fascinating possibility to gain information on unborn life from minimal amounts of DNA. However, it remains a pure risk estimation test directed towards the detection of specific chromosomal abnormalities from peripheral blood of the pregnant woman. It is important to highlight that families buying this test, and getting a normal result, may be provided with a false sense of security. Thus, careful and comprehensive genetic counselling should be performed before the test is offered, and should include a clear explanation of the advantages and disadvantages, as well as limitations, compared to other methods.

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Risk of fetal loss associated with invasive testing following combined first‐trimester screening for Down syndrome: a national cohort of 147 987 singleton pregnancies

Cited by 157 publications

References 33 publications

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Noninvasive Prenatal Testing - When Is It Advantageous to Apply

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