Multicenter study of first‐trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk‐orientated two‐stage first‐trimester screening

Nicolaides, Kypros H.; Spencer, Kevin; Avgidou, K.; Faiola, S.; Falcón, Orlando

doi:10.1002/uog.1860

Cited by 424 publications

(338 citation statements)

References 25 publications

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“…towards the placenta from the fetal heart, instead of towards the heart from the placenta) in 64% of Down's syndrome pregnancies and 4% of pregnancies with a normal outcome. 1 Several studies show that DV blood flow is a useful discriminatory test either in selected higher-risk populations 2,3 or in other populations. 4,5 DV blood flow can also be expressed quantitatively as the ductus venosus pulsality index (DVPI), which is the difference between the maximum blood velocity in systole and that at the end of diastole (A-wave) in the DV divided by the maximum velocity averaged over the time of one heartbeat, as follows: DVPI ¼ Systole velocity À End diastole velocity Average maximum velocity during one heart beat :…”

Section: Introductionmentioning

confidence: 99%

Ductus Venosus Pulsatility Index as an Antenatal Screening Marker for Down'S Syndrome: Use with the Combined and Integrated Tests

Borrell

Borobio

Bestwick³

et al. 2009

J Med Screen

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Objectives To assess the value of ductus venosus blood flow (expressed as pulsatility index, DVPI) in antenatal Down's syndrome screening when used with the Combined and Integrated tests. Methods DVPI measurements between 10 and 13 weeks' gestation in 66 Down's syndrome and 7184 unaffected pregnancies were collected from women attending the Hospital Clinic, Barcelona, for antenatal care from 1999 to 2007 and combined with the Serum Urine and Ultrasound Screening Study (SURUSS) data to model screening performance, safety and costeffectiveness of the screening tests with and without DVPI. Results The median DVPI multiple of the normal median in Down's syndrome pregnancies was 1.55 (95% CI 1.36 -1.73). As a single screening marker without using maternal age, DVPI has a 62% detection rate for a 5% false-positive rate. At a 90% detection rate (first trimester measurements at 11 weeks' gestation) the addition of DVPI reduced the false-positive rate of the Combined test from 8.5% to 4.6% and the Integrated test from 2.0% to 1.1%, with a corresponding reduction in fetal losses from diagnostic procedures. There was no material loss of cost-effectiveness. Conclusion Addition of DVPI measurements to the Combined and Integrated tests substantially improves the efficacy and safety of antenatal Down's syndrome screening.

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Section: Introductionmentioning

confidence: 99%

Ductus Venosus Pulsatility Index as an Antenatal Screening Marker for Down'S Syndrome: Use with the Combined and Integrated Tests

Borrell

Borobio

Bestwick³

et al. 2009

J Med Screen

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“…Все большее распространение в практике работы медико-генетических учреждений в мире находит обследование беременных с помощью ПС в I триме-стре. Выявление патологии во II триместре беремен-ности сопряжено с моральными проблемами и ря-дом акушерских осложнений, связанных с прерыва-нием беременности в поздние сроки [7,8,10,[13][14][15][16] Анализ архивного материала женской консуль-тации показал, что как раз массовый характер скри-нинга беременных в I триместре женская консуль-тация не обеспечивает. Из общего количества жен-щин, состоявших на учете по беременности с 2007 по 2011 г., в I триместре встали на учет 69,3%, а ПС проведено 59,3% беременных женщин.…”

Section: Discussionunclassified

The reasons of low efficiency of prenatal genetic diagnosis

Акуленко¹,

Манухин²,

Macharashvili³

2015

Probl. reprod.

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Цель исследования -оценить потребности в совершенствовании деятельности амбулаторного звена акушерско-гинекологической службы как первого уровня пренатальной диагностики (ПД). Материал и методы. Предпринят ретроспективный анализ архивного материала одной из женских консультаций города Москвы за период с 2007 по 2011 г. Результаты. Установлено, что в I триместре встали на учет 69,3% беременных, а пренатальному скринингу (ПС) подверглись 59,3% беременных, что свидетельствует о недостаточной готовности амбулаторного звена акушерско-гинекологической службы к переходу на ПС только в I триместре. Во II триместре у 72,0% женщин сроки проведения ПС были грубо нарушены, 10,0% женщин таковому не подвергались вовсе, заключения об индивидуальном риске хромосомных аномалий у плода имелись в амбулаторных картах только у 61,4% беременных. Информация о результатах медико-генетического консультирования в амбулаторных картах женской консультации отсутствовала более чем у 72,0% беременных, отнесенных к группе риска. Сравнительный анализ исходов беременности в группах пациенток, подвергавшихся и не подвергавшихся ПС, не выявил никаких статистически значимых различий. Выводы. Таким образом, главной причиной низкой эффективности ПД является систематическое несоблюдение регламента ПС на уровне амбулаторного звена акушерско-гинекологической службы. Results. 69.3% of pregnant patients were registered in the first trimester. Only 59.3% had prenatal genetic screening. In the second trimester the prenatal screening schedule was neglected in 72% of women; 10% had no this procedure at all. The individual risk of chromosomal abnormalities was assessed only in 61.4% of the pregnant outpatients. Data of the genetic consultations was missed in 72% of the pregnant women of risk group. Pregnancy outcomes were similar in both groups. Conclusions. The main cause of low quality of prenatal genetic diagnostics is the systemic failure of prenatal screening procedure guidelines.

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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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Multicenter study of first‐trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk‐orientated two‐stage first‐trimester screening

Abstract: Objectives To evaluate the performance of first-trimester 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

Cited by 424 publications

References 25 publications

Ductus Venosus Pulsatility Index as an Antenatal Screening Marker for Down'S Syndrome: Use with the Combined and Integrated Tests

Ductus Venosus Pulsatility Index as an Antenatal Screening Marker for Down'S Syndrome: Use with the Combined and Integrated Tests

The reasons of low efficiency of prenatal genetic diagnosis

Aneuploidy and Anomaly Screening

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