Performance of prenatal screening using maternal serum and ultrasound markers for Down syndrome in Chinese women: a systematic review and meta‐analysis

Abstract

Background Controversies about the performance of conventional prenatal screening using maternal serum and ultrasound markers (PSMSUM) in detecting Down syndrome (DS) have been raised as a result of a recently available noninvasive prenatal test based on cell-free fetal DNA sequencing.Objectives To evaluate the screening performance of PSMSUM in detecting DS in Chinese women.Search strategy An exhaustive literature search of MEDLINE, Embase, the Cochrane Library, ISI Web of Science and China BioMedical Disc.Selection criteria Primary studies, published from January 2004 to November 2014, which examined the screening accuracy of PSMSUM in pregnant Chinese women, compared with a reference standard, either chromosomal verification or inspection of the newborn.Data collection and analysis Data were extracted as screening positive/negative results for Down and non-Down syndrome pregnancies, allowing estimation of sensitivities and specificities. Risks of bias within and across studies were assessed. Screening accuracy measures were pooled using a bivariate random effects regression model.Main results Seventy-eight studies, involving six categories of PSMSUM, were included. Second-trimester double serum [pooled sensitivity (SEN) = 0.80, pooled specificity (SPE) = 0.95] and triple-serum (pooled SEN = 0.79, pooled SPE = 0.96) screening were the predominant PSMSUM methods. The screening performances of these methods achieved the national standard but varied enormously across studies. First-trimester combined screening (pooled SEN = 0.92, pooled SPE = 0.93) and secondtrimester quadruple serum screening (median SEN = 0.86, median SPE = 0.96) performed better, but were rarely used.Author's conclusions Second-trimester maternal serum screening has the potential to achieve satisfactory screening performance in middle-and low-income countries. The reported enormous range in screening performance of second-trimester PSMSUM calls for urgent implementation of methods for performance optimization.Keywords Down syndrome, prenatal screening, systematic review, trisomy 21.

A Cost-Effectiveness Analysis of Screening Strategies involving Noninvasive Prenatal Testing for Trisomy 21

“…Second, NIPT price varied between 0 and 325 US$. Third, 30-90% pregnant women with high risk after serum screening would accept NIPT 6,41 . Fourth, 90% pregnant women with positive screening results would accept prenatal diagnosis, based on national guidelines and rate observed 18 (Table 1).…”

“…To avoid the invasive procedure-related miscarriage, diagnostic testing through chorionic villus sampling (CVS), amniocentesis and cordocentesis is confined to certain high-risk population 5 . Traditional triple serum screening (AFP, β-hCG and uE3) in mid-trimester is most frequently adopted in China 6 , accounting for 40% of the registration. As an important supplementary for those missing the window period for NT measurements in the first trimester antenatal care, the detection rate (DR) varies between 60%-93% if fixing false positive rate (FPR) of 3% 7 .…”

Second tier non-invasive prenatal testing in a regional prenatal diagnosis service unit: a retrospective analysis and literature review

“…This measure has significantly reduced unnecessary invasive procedures for women of advanced maternal age without introducing any other risk factors. 3 However, the sensitivity and specificity of first or second trimester Down's syndrome screening tests are only about 90%, 4 and false positive cases and accidental findings of chromosomal and structural abnormalities may put women at risk of further unnecessary procedures. The discovery of the presence of cell-free fetal DNA in maternal plasma by Professor Dennis Lo in 1997 was a remarkable breakthrough in prenatal screening.…”

Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell‐free DNA

“…2 The conventional algorithm for prenatal diagnosis was revolutionized when noninvasive prenatal testing (NIPT) with cell-free DNA (cfDNA) was introduced for the detection of fetal aneuploidies. 5,6 Firsttrimester screening (FTS) with measurement of NT is still considered standard care worldwide, 7 despite an increasing trend toward replacement with NIPT using cfDNA. 5,6 Firsttrimester screening (FTS) with measurement of NT is still considered standard care worldwide, 7 despite an increasing trend toward replacement with NIPT using cfDNA.…”

“…3 cfDNA was shown to be superior in detecting the most frequent aneuploidies, 4 while generating fewer false-positive results. 5,6 Firsttrimester screening (FTS) with measurement of NT is still considered standard care worldwide, 7 despite an increasing trend toward replacement with NIPT using cfDNA. 5,8 In making the transition to cfDNA, it is important to evaluate whether there is any added value using ultrasonography-based This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.…”