Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation

Kagan, Karl Oliver; Cicero, S.; Staboulidou, I.; Wright, Dave; Nicolaides, Kypros H.

doi:10.1002/uog.6318

Cited by 144 publications

(131 citation statements)

References 21 publications

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“…The efficacy of screening may be increased, with a simultaneous reduction of invasive testing rate, by addition of ultrasound markers of trisomy 21 (NB, DV PI, TR, FMA-angle) to the risk calculation algorithm. It should be noted that the use of additional markers should only be considered when the risk based on Maternal Age (MA), NT and the biochemistry test falls within the range of 1/50-1/1000 [3][4][5][6].…”

Section: Www Journalsviamedicapl/ginekologia_polskamentioning

confidence: 99%

Influence of first trimester biochemistry methodology on detection rate in screening for trisomy 21

et al. 2017

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Objectives: The purpose of the study was to compare detection rates (DR) of FMF-certified and non-certified biochemical tests (BC) in trisomy 21 screening at 11-13 + 6 weeks. Material and methods:In 2267 singleton pregnancies FMF-certified doctors measured crown to rump length (CRL) and nuchal translucency (NT). Serum samples were tested for free β-hCG and the PAPP-A using 2 analysers (Delfia -Perkin Elmer and Immulite 2000 -DPC), the results were expressed in MoM values and used for computer calculation of the risk for trisomy 21. The cut-off value for the high trisomy 21 risk was 1:300. Results:Comparison of free β-hCG MoMs by DPC and Delfia demonstrated statistically significant differences in normal, and trisomy 21 fetuses respectively. Similarly, statistically significant differences were noted for PAPP-A MoMs. The above differences in MoMs resulted in altered sensitivity in screening for aneuploidy. The application of the FMF-certified method ensures a markedly higher DR = 74%, compared to non-certified tests (64%), both at 5% FPR.The ROC analysis was performed in order to assess the efficacy of both tests. Results of trisomy 21 BC + NT risk scales using the Delfia and DPC methods are highly significant (p < 0.0001), which means that their discrimination ability is > 90%. The difference between results obtained using the Delfia and DPC methods is AUC = 0.0150 and is statistically significant (Z = 2.4728, p = 0.0134). Conclusions:The use of FMF-certified first trimester biochemistry analysers improves DR for trisomy 21. The use of non-certified analysers causes reduction of DR and an increase of invasive procedure rate.

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Section: Www Journalsviamedicapl/ginekologia_polskamentioning

confidence: 99%

Influence of first trimester biochemistry methodology on detection rate in screening for trisomy 21

et al. 2017

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“…Absence of the nasal bone, reversed a-wave in the ductus venosus and tricuspid regurgitation are observed in about 60, 66 and 55% of fetuses with trisomy 21 and in 2.5, 3.0 and 1.0%, respectively, of euploid fetuses. (Matias et al, 1998;Cicero et al, 2001Cicero et al, , 2006Huggon et al, 2003;Nicolaides, 2004;Faiola et al, 2005;Falcon et al, 2006;Kagan et al, 2009bKagan et al, , 2009cMaiz et al, 2009).…”

Section: Additional First-trimester Sonographic Markersmentioning

confidence: 99%

Aneuploidy and Anomaly Screening

Elkady¹,

Dawlatly²,

Ahmed³

et al. 2017

Mastering Single Best Answer Questions for the Part 2 MRCOG Examination

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Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.

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“…The advantage of using foetal DNA assessment becomes obvious when these figures are compared with the positive and negative likelihood ratios of 18 and 0.11 based on FTS for trisomy 21, with detection and false positive rates of 90 % and 5 %, respectively [21]. Even when additional ultrasound markers such as nasal bone length, tricuspid valve and ductus venosus flow are used, the figures are still 95 % and 2.5% and thus lower than those for foetal DNA in maternal blood [22][23][24]. l " Table 2 offers an overview of the test quality of prenatal screening tests for trisomy 21.…”

Section: Studymentioning

confidence: 99%

“…Patients would subsequently be categorised as high risk, intermediate risk or low risk. The Foetal Medicine Foundation London recommends using cut-off risks of 1 in 50 and 1 in 1000 [22][23][24]. Around 1 % of euploid foetuses are found in the high-risk group and 12 % and 87% in the intermediate-risk and low-risk collectives.…”

Section: Studymentioning

confidence: 99%

“…However, the use of foetal DNA is conceivable in the intermediate risk group. Previously, the new ultrasound markers "foetal nasal bone", "tricuspid valve and ductus venosus flow" were used in this risk group, with detection and false positive rates of around 50-65 % and 1-3%; if foetal DNA assessment in maternal blood were added, this could result in a better assessment of risk [22][23][24]. As shown in l " Fig.…”

Section: Studymentioning

confidence: 99%

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Assessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal Specialists

Kagan

Hoopmann

Kozlowski³

2012

Geburtsh Frauenheilk

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Introduction !In the last few years, first trimester screening (FTS) in 11+ to 13+ weeks of gestation (12th to 14th weeks of gestation) has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications [1]. While, initially, the main focus was to determine the personal risk for trisomies 21, 18 and 13, today around half of all severe foetal defects can be recognised at the time of FTS. In addition, the risks for pre-eclampsia, growth retardation and pre-term birth can be determined. Various interventions and therapies are now available to treat many of these problems in patients considered at particular risk [2,38]. The use of foetal DNA obtained from maternal blood and massively parallel sequencing has made it possible to detect foetal trisomy 21 with a high degree of probability already in the first trimester of pregnancy [3]. At a casual glance it would appear that use of foetal DNA to assess the risk for trisomy 21 now competes with FTS. But on more careful examination of these tests it becomes clear that assessment of foetal DNA has the potential to become an important tool for prenatal medicine specialists in future. This review offers an assessment of foetal DNA analysis in the context of current prenatal medical questions and demonstrates the practical uses of this approach. Assessment of Free Foetal DNA from Maternal Blood !The detection of foetal DNA in maternal blood or, to be more precise, in cell-free maternal plasma goes back to a study by Lo et al. published in 1997 [4]. Pregnancy-specific cell-free DNA in maternal blood or plasma constitutes around 10 % of all cell-free DNA, is largely fragmented and is not Abstract ! Over the last few years, first trimester screening between 11+ and 13+ weeks of gestation has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications including pre-eclampsia or pre-term birth. Screening for trisomies 21/18 and 13 using maternal and gestational age, foetal nuchal translucency, and maternal serum biochemistry was formerly the main reason for first trimester screening. However, today this is only one part of the overall examination. In the near future, the analysis of foetal DNA obtained from maternal blood will be used to supplement first trimester screening for aneuploidy or even replace current screening methods. In this review we show how prenatal medicine specialists can use foetal DNA analysis. Zusammenfassung !Das Ersttrimesterscreening in der 11 + bis 13 + SSW hat sich in den vergangenen Jahren zu einer der zentralen Ultraschalluntersuchungen in der Schwangerschaft entwickelt, welche die Prädik-tion zahlreicher Probleme in der Schwangerschaft, wie Präeklampsie oder Frühgeburtlichkeit, erlaubt. Die eigentliche Risikoberechnung für Trisomie 21/18 und 13, basierend auf dem mütter-lichen Altersrisiko, der fetalen Nackentransparenz und der maternalen Serumbiochemie, stellt dabei nur einen der Schwerpunkte dar,...

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Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation

Abstract: ABSTRACT

Cited by 144 publications

References 21 publications

Influence of first trimester biochemistry methodology on detection rate in screening for trisomy 21

Influence of first trimester biochemistry methodology on detection rate in screening for trisomy 21

Aneuploidy and Anomaly Screening

Assessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal Specialists

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