First trimester, second trimester, and integrated screening for Down's syndrome in China

Miao, Zhen; Liu, Xia; Shi, Tiefeng; Xü, Ying; Song, Qinhao; Tang, Shaohua

doi:10.1258/jms.2012.011145

Cited by 18 publications

(20 citation statements)

References 14 publications

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“…As Miao et al [14] described, the levels of AFP and fβhCG were quantified by time-resolved fluoroimmunoassay using Wallac 1235 AutoDELFIA (DELFIA1235: Perkin Elmer, Waltham, MA). The value were also presented as multiples of the median (MoM) and determined the risk of carrying a fetus with DS by Wallace LifeCycle Elipse analysis software (Perkin Elmer) in the second trimester.…”

Section: Methodsmentioning

confidence: 99%

Analysis of Down syndrome failed to be diagnosed after prenatal screening

et al. 2017

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To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS. In this multicenter study, we collected the missed cases from 3 prenatal diagnosis centers and analyzed their characters. A total of 126 DS babies failed to be diagnosed after prenatal screening. Their mothers accepted the prenatal screening in second trimester. We collected the mothers’ blood and detected the levels of alpha-fetoprotein (AFP) and the free beta subunit of human chorionic gonadotropin (fβhCG) by time-resolved fluoroimmunoassay. The values were also presented as multiples of the median (MoM) and determined the risk of carrying a fetus with DS by Wallace LifeCycle Elipse analysis software. Compared with normal control group, the level of fβhCG and hCG MoM were dramatically increased, while AFP and AFP MoM were decreased. The area under the receiver-operating-characteristic curve of trisomy 21 was 0.8387 for hCG-MoM and AFP-MoM testing. The sensitivity, specificity, positive predictive value, and negative predictive value were 84.6%, 74.8%, 75.4%, and 83.6%, respectively. Meanwhile, the prediction mode was “0.39957 + 1.90897∗HCG-MOM −3.32713∗AFP-MOM”. It was worthwhile noting that the risk of 65.9% DS missed diagnosis group were higher than 1/1000, 92.9% higher than 1/3000. However, 72.5% cases in normal control group were lower than 1/3000. Only 9.2% mothers would be higher than the value of risk in 1/1000. The prediction mode of hCG MoM and AFP MoM might be able to help us reduce the missed diagnosis. It is also necessary to adjust more reasonable range of noninvasive prenatal testing with further clinical researches.

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Section: Methodsmentioning

confidence: 99%

Analysis of Down syndrome failed to be diagnosed after prenatal screening

et al. 2017

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“…В 1992 г. впервые была установлена связь между высоким уровнем ингибина А в крови беременной и частотой выявления синдрома Дауна у плода [51]. Впоследствии это было подтверждено в других исследованиях, продемонстрировавших повышение уровня ингибина А в крови беременных с синдромом Дауна у плода [52,53]. При развитии у плода синдрома Дауна уровень циркулирующего инги бина А возрастает в 2 раза, что обусловливает клиническую значимость его определения.…”

Section: ингибин как маркер осложнений течения беременностиunclassified

“…При развитии у плода синдрома Дауна уровень циркулирующего инги бина А возрастает в 2 раза, что обусловливает клиническую значимость его определения. Отмечается повышение только α-субъединицы, а β-субъединица остается в пределах нормы [52].…”

Section: ингибин как маркер осложнений течения беременностиunclassified

Inhibin as a reproductive biomarker part 2. Clinical significance of inhibins in reproductive medicine

et al. 2019

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In the early 2000s, the determination of inhibin levels was used actively for the diagnosis of ovarian tumors, as a diagnostic marker for prenatal screening of Down syndrome, as well as a prognostic marker for ovarian reserve when conducting assisted reproductive technologies. However, to date, inhibin is rarely used as a marker for reproductive function. At the same time, numerous studies of recent years indicate the crucial role of inhibin in folliculogenesis and spermatogenesis, as well as in implantation and placentation. This allows to significantly expand the diagnostic spectrum of inhibin levels in various disorders of the reproductive system of both women and men.

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“…A strategy based on a first‐trimester combined test, costing RMB800, would be cheaper than cffDNA and more affordable in rural regions, while offering higher sensitivity than the second‐trimester tests provided the test is conducted correctly. Local experience of second‐trimester screening indicates that the expected performance rates have not been achieved in China . The reasons for this include the continued use of biochemistry adjustment models imported from Western populations and the use of low/high‐risk thresholds that are not based on the age distribution of Chinese women .…”

Section: Introductionmentioning

confidence: 99%

“…Local experience of second-trimester screening indicates that the expected performance rates have not been achieved in China. [11][12][13][14][15] The reasons for this include the continued use of biochemistry adjustment models imported from Western populations and the use of low/highrisk thresholds that are not based on the age distribution of Chinese women. 11 Reported AFP and free b-hCG multiples of the normal median (MoMs) were respectively 11-26% and 30-45% higher than expected, even after adjustment for weight and ethnicity.…”

Section: Introductionmentioning

confidence: 99%

Applicability of first‐trimester combined screening for fetal trisomy 21 in a resource‐limited setting in mainland China

Sahota

Lao

et al. 2016

BJOG

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Objective To assess the feasibility and performance of the firsttrimester combined screening test for trisomy 21 in a resourcelimited setting in mainland China.Design Prospective observational cohort study.Setting First Affiliated Hospital of Kunming Medical University, China.Population Ten thousand four hundred and forty-two pregnant women requesting first-trimester screening.Methods The combined screening test was performed from May 2012 to December 2014. Women with a high-risk result (≥1:600) were offered further confirmatory tests after counselling. The threshold for high risk was determined by Monte Carlo simulation to achieve a 5% false-positive rate according to the local age distribution. Pregnancy outcome and screening results were recorded for all women and monthly audits were conducted.Main outcome measures Sensitivity, screen positive rate, cost per case of Down syndrome detected.Results Six hundred and ten women (5.8% of the total screened) had a high-risk screening test, of whom 274 (44.9%) underwent a diagnostic test and 169 (27.7%) opted for a noninvasive prenatal screening test (NIPT); 160 (26.2%) declined further testing after counselling. The pregnancy outcome was available for 10 174 (97.4%) of the women. The observed incidence of Down syndrome was 0.13% (1/750). All 14 women with a trisomy 21 pregnancy had a high-risk screening test result. The cost per Down syndrome detected was RMB596 686 compared with RMB1.79 million if all had been screened by NIPT.Conclusions The combined screening test appears to be a more cost-effective strategy in mainland China. Screening performance in China would be improved by adopting Chinese-specific models, external quality control and assurance, and establishing risk thresholds appropriate for the age distribution of the population.Keywords China, cost-effectiveness, Down syndrome, firsttrimester screening, noninvasive prenatal testing, nuchal translucency.Tweetable abstract Combined first-trimester Downs screening in China was improved by adopting Chinese-specific models and external QC.

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First trimester, second trimester, and integrated screening for Down's syndrome in China

Abstract: These findings suggest that integrated screening was the most effective means of screening for Down's syndrome in a Chinese population.

Cited by 18 publications

References 14 publications

Analysis of Down syndrome failed to be diagnosed after prenatal screening

Analysis of Down syndrome failed to be diagnosed after prenatal screening

Inhibin as a reproductive biomarker part 2. Clinical significance of inhibins in reproductive medicine

Applicability of first‐trimester combined screening for fetal trisomy 21 in a resource‐limited setting in mainland China

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