Aneuploidy screening in the first trimester

Spencer, Kevin

doi:10.1002/ajmg.c.30119

Cited by 68 publications

(38 citation statements)

References 128 publications

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“…This shift toward earlier screening has increased the detection rate for fetal aneuploidy and has led to earlier diagnosis and a decrease in the percentage of women undergoing invasive procedures (1,2 ). The first-trimester screening is a risk assessment based on age-related risk for fetal aneuploidy, serological markers, pregnancy-associated plasma protein A (PAPP-A), 2 free ␤ human choriogonadotropin (free ␤ hCG), and ultrasound measurement of nuchal translucency. Most studies on firsttrimester screening have used the so-called one-stop clinic to assess risk (OSCAR) approach, where biochemical testing, ultrasound examination, risk assessment, and counseling are performed at a visit at gestational weeks 12-13.…”

Section: Discussionmentioning

confidence: 99%

Performance of First-Trimester Screening between Gestational Weeks 7 and 13

Tørring

2009

Clinical Chemistry

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Section: Discussionmentioning

confidence: 99%

Performance of First-Trimester Screening between Gestational Weeks 7 and 13

Tørring

2009

Clinical Chemistry

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“…A large number of studies with several hundred thousand patients en- rolled have proven the effectiveness of the certified firsttrimester screening [1][2][3]8] . Using the algorithm of the FMF in London, a detection rate of 89% at a false-positive rate of 5% can be achieved [1] .…”

Section: Discussionmentioning

confidence: 99%

Comparison of the New PRC Software with the Established Algorithm of the FMF UK for the Detection of Trisomy 21 and 18/13

Lüthgens¹

2008

Fetal Diagn Ther

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Objective: The aim of this study was to compare the newly developed Prenatal Risk Calculation (PRC) software and the established Fetal Medicine Foundation (FMF) UK algorithm for their detection and false-positive rates in prenatal screening of trisomy 21 or 18/13. Methods: Nuchal translucency was measured by FMF-certified sonographers in 39,004 pregnancies. Risks for trisomy 21 and 18/13 were calculated together with serum PAPPA and free beta-hCG in all cases. Overall, 109 cases of trisomy 21 and 39 cases of trisomy 18 or 13 occurred. The detection rates were calculated for all 109 trisomy 21 cases using both PRC and ASTRAIA, software based on the official algorithm of the FMF UK. The false-positive rate was calculated on the basis of all 39,004 cases for ASTRAIA and on the basis of 3,620 additional cases for PRC. The comparison of the algorithms was performed by the calculation of receiver-operating characteristic (ROC) curves. Results: The detection rates for trisomy 21 for a 5% false-positive rate were 91% (99/109) for PRC and 90% (98/109) for ASTRAIA. The difference was not significant. ROC curve analysis showed an area under the curve (AUC) of 0.976 for PRC and 0.975 for ASTRAIA (p = 0.80). At a cutoff of 1:300, PRC showed a slightly (nonsignificantly) higher, but nonsignificant false-positive rate (3.8% for ASTRAIA, version since 2005, 5.1% for PRC) associated with a slightly (nonsignificantly) higher, but nonsignificant detection rate of 91% (PRC) versus 88% (ASTRAIA). The false-positive rate of the biochemical risk (without NT) in PRC was significantly higher (17.7%) than with the FMF UK algorithm (9.0%) at a common risk cutoff of 1:300. A reason for the higher false-positive rates in PRC may be the missing correction for maternal weight, smoking status, and ethnicity. The detection rates for trisomy 18/13 at a risk cutoff of 1:150 were 79% for PRC and 77% for ASTRAIA. False-positive rates for trisomy 18/13 at a cutoff of 1:150 were 1.5% for PRC and 0.6% for ASTRAIA (differences were nonsignificant). Conclusion: For a 5% false-positive rate, the new PRC software detects as many trisomy 21 and trisomy 18/13 cases as the established algorithms of the FMF UK. In order to reduce the false-positive rate for the biochemical risk, the algorithm of the PRC software should be redesigned to include the maternal weight, smoking status of the mother, and the ethnicity.

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“…The available methods are presented in Table 1. A relatively reliable non-invasive screening approach is the combination of first trimester Pregnancy-associated Plasma Protein A (PAPP-A) and free β-subunit of Human Chorionic Gonadotropin (free-β-HCG) biochemical measurements with nuchal translucency that can detect, e.g., 88% of trisomies 21 with a 5% false-positive rate [14]. Prenatal diagnosis of chromosome abnormalities is performed by conventional cytogenetic analysis using in vitro culture of fetal nucleated cells retrieved by amniocentesis, chorionic biopsy or fetal blood sampling.…”

Section: Current Prenatal Diagnosismentioning

confidence: 99%

Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis

Kotsopoulou¹,

Tsoplou²,

Mavrommatis

et al. 2015

Diagnosis

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With the discovery of existing circulating cellfree fetal DNA (ccffDNA) in maternal plasma and the advent of next-generation sequencing (NGS) technology, there is substantial hope that prenatal diagnosis will become a predominately non-invasive process in the future. At the moment, non-invasive prenatal testing (NIPT) is available for high-risk pregnancies with significant better sensitivity and specificity than the other existing non-invasive methods (biochemical and ultrasonographical). Mainly it is performed by NGS methods in a few commercial labs worldwide. However, it is expected that many other labs will offer analogous services in the future in this fastgrowing field with a multiplicity of in-house methods (e.g., epigenetic, etc.). Due to various limitations of the available methods and technologies that are explained in detail in this manuscript, NIPT has not become diagnostic yet and women may still need to undergo risky invasive procedures to verify a positive finding or to secure (or even expand) a negative one. Efforts have already started to make the NIPT technologies more accurate (even at the level of a complete fetal genome) and cheaper and thus more affordable, in order to become diagnostic screening tests for all pregnancies in the near future.

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Aneuploidy screening in the first trimester

Cited by 68 publications

References 128 publications

Performance of First-Trimester Screening between Gestational Weeks 7 and 13

Performance of First-Trimester Screening between Gestational Weeks 7 and 13

Comparison of the New PRC Software with the Established Algorithm of the FMF UK for the Detection of Trisomy 21 and 18/13

Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis

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