Prospective validation of first‐trimester combined screening for trisomy 21

Kagan, K. O.; Etchegaray, Adolfo; Zhou, Yi; Wright, David; Nicolaides, Kypros H.

doi:10.1002/uog.6412

Cited by 117 publications

(111 citation statements)

References 9 publications

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“…Sie erfolgt derzeit als Ersttrimesteruntersuchung -in der Regel zwischen 11 und 14 abgeschlossenen Schwangerschaftswochen (SSW) p.m. (post menstruationem) [4,5,6,7]. Zur Anwendung kommen derzeit: die Anamnese mütter-licher Risikofaktoren, die Ultraschalluntersuchung mit Messung der Scheitel-Steiß-Länge und der fetalen Nackentransparenz sowie optional zusätzliche sonographisch festgestellte morphologische oder hämodynamische Parameter oder strukturelle Besonderheiten und die Bestimmung serologischer laboratoriumsmedizinischer Messgrößen, wie der freien β-Kette des humanen Choriongonadotropins (freies β-hCG) und das schwangerschaftsassoziierte Plasmaprotein A (PAPP-A) aus mütterlichem Blut.…”

Section: Vorbemerkung Zur Methodeunclassified

Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Durchführung der vorgeburtlichen Risikoabklärung sowie an die insoweit erforderlichen Maßnahmen zur Qualitätssicherung gemäß 23 Abs. 2 Nr. 5 GenDG

2013

Bundesgesundheitsbl.

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Section: Vorbemerkung Zur Methodeunclassified

Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Durchführung der vorgeburtlichen Risikoabklärung sowie an die insoweit erforderlichen Maßnahmen zur Qualitätssicherung gemäß 23 Abs. 2 Nr. 5 GenDG

2013

Bundesgesundheitsbl.

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“…Around 1 % of euploid foetuses are found in the high-risk group and 12 % and 87% in the intermediate-risk and low-risk collectives. 83 %, 14% and 3 %, respectively, of trisomy 21 foetuses are found in the high-risk, intermediate-risk and low-risk groups [25].…”

Section: Studymentioning

confidence: 98%

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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“…Several prospective interventional studies in many thousands of pregnancies have demonstrated that for a 5% false-positive rate, the first-trimester combined test identifies about 90% of trisomy 21 pregnancies (Krantz et al, 2000;Bindra et al, 2002;Schuchter et al, 2002;Spencer et al, 2003c;Wapner et al, 2003;Nicolaides et al, 2005;Ekelund et al, 2008;Kagan et al, 2009a;Leung et al, 2009). …”

Section: Screening By Fetal Nt Thickness and Serum Biochemistrymentioning

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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Prospective validation of first‐trimester combined screening for trisomy 21

Abstract: Objective To examine the performance of the new algorithm in screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and maternal serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A). Methods

Cited by 117 publications

References 9 publications

Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Durchführung der vorgeburtlichen Risikoabklärung sowie an die insoweit erforderlichen Maßnahmen zur Qualitätssicherung gemäß 23 Abs. 2 Nr. 5 GenDG

Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Durchführung der vorgeburtlichen Risikoabklärung sowie an die insoweit erforderlichen Maßnahmen zur Qualitätssicherung gemäß 23 Abs. 2 Nr. 5 GenDG

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

Aneuploidy and Anomaly Screening

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