Noninvasive fetal<i>RHD</i>genotyping using cell-free fetal DNA incorporating fetal<i>RASSF1A</i>marker in RhD-negative pregnant women in Korea

Han, Sung Hee; Yang, Young Ho; Ryu, Jae Song; Kim, Young Jin; Lee, Kyoung Ryul

doi:10.5734/jgm.2015.12.2.100

Cited by 1 publication

(1 citation statement)

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“…The search revealed 4433 studies for inclusion. After reviewing the full article, 117 studies were eligible, reporting on 18 different conditions and 472 935 tests (Figure S1). The study characteristics are outlined in Table S1.…”

Section: Resultsmentioning

confidence: 99%

The accuracy of cell‐free fetal DNA‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis

Mackie

Hemming

Allen

et al. 2016

BJOG

226

160

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Background Cell-free fetal DNA (cffDNA) non-invasive prenatal testing (NIPT) is rapidly expanding, and is being introduced at varying rates depending on country and condition.Objectives Determine accuracy of cffDNA-based NIPT for all conditions. Evaluate influence of other factors on test performance.Search strategy Medline, Embase, CINAHL, Cochrane Library, from 1997 to April 2015.Selection criteria Cohort studies reporting cffDNA-based NIPT performance in singleton pregnancies.Data collection and analysis Bivariate or univariate meta-analysis and subgroup analysis performed to explore influence of test type and population risk. False and inconclusive results were poorly reported across all conditions. Although the test type affected both sensitivity and specificity, there was no evidence that population risk had any effect.Conclusion Performance of cffDNA-based NIPT is affected by condition under investigation. For fetal sex and rhesus D status, NIPT can be considered diagnostic. For trisomy 21, 18, and 13, the lower sensitivity, specificity, and disease prevalence, combined with the biological influence of confined placental mosaicism, designates it a screening test. These factors must be considered when counselling patients and assessing the cost of introduction into routine care.Keywords Cell-free fetal DNA, diagnostic accuracy, non-invasive prenatal testing.Tweetable abstract cffDNA NIPT accuracy high, can be diagnostic for fetal sex and rhesus D, but only screening test in aneuploidy.

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Section: Resultsmentioning

confidence: 99%