Diagnostic accuracy of non-invasive fetal RhD genotyping using cell-free fetal DNA: a meta analysis

Zhu, Yujuan; Zheng, Yanfang; Li, Li; Zhou, Hao; Xi, Liao; Guo, Jianxin; Yi, Ping

doi:10.3109/14767058.2014.882306

Cited by 29 publications

(17 citation statements)

References 28 publications

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“…Several systematic reviews and meta‐analyses evaluating test accuracy have been published . These have several limitations, however: (i) they evaluate individual conditions (e.g.…”

Section: Introductionmentioning

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

209

156

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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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“…Several systematic reviews and meta‐analyses evaluating test accuracy have been published . These have several limitations, however: (i) they evaluate individual conditions (e.g.…”

Section: Introductionmentioning

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

209

156

View full text Add to dashboard Cite

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“…Our study demonstrated 98.51 per cent diagnostic accuracy although 20.8, 53.3 and 26.7 per cent participants were recruited during the first, second and third trimester, respectively. A diagnostic accuracy of 96.5-100 per cent13 is considered as an acceptable reference range for this non-invasive test, for routine clinical use.…”

Section: Discussionmentioning

confidence: 99%

“…RHD genotyping utilizing a multi-exon approach could detect appropriately some RHD variants associated with RhD-negative phenotype, thus minimizing the rate of false positives. The identification of such RHD variants depends on analysis of inconsistencies between the different targeted exons of RHD gene due to analytical variations or errors, like low cffDNA quantity during the first trimester, or faulty DNA extraction, leading to a false result1318. In clinical practice, these results would lead to the mismanagement of the RhD pregnancies who are at a risk of alloimmunization.…”

Section: Discussionmentioning

confidence: 99%

Non-invasive prenatal rhesus D genotyping using cell-free foetal DNA

2019

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Background & objectives:Non-invasive prenatal diagnosis (NIPD) of rhesus D (RHD) genotype using cell-free foetal DNA is extensively used in many developed countries. Studies on NIPD from India are scarce. The aim of the present study was to evaluate the performance of non-invasive foetal RHD genotyping by targeting exon 10 of the RHD gene using cell-free DNA.Methods:DNA was extracted from the maternal plasma of alloimmunized and non-alloimmunized women between 7 and 34 wk of gestation. RHD sequence was determined by quantitative real time polymerase chain reaction (PCR). Results were compared with RhD phenotype obtained from cord blood samples of neonates.Results:A total of 135 samples from RhD-negative pregnant women were collected. The foetal RHD status was conclusive in all 135 (100%) cases. The highest number of cases reported for RHD genotyping were from Punjab (38.5%) followed by Haryana (24.4%), Himachal Pradesh (17.0%) and Chandigarh Union Territory (13.3%). The non-invasive test correctly predicted the foetal RhD phenotype in 133 of 135 cases, making the accuracy of the test as 98.51 per cent [95% confidence interval (CI): 97.90-99.50%]. The overall sensitivity and specificity of the test were 99.18 per cent (95% CI: 95.52-99.98%) and 92.31 per cent (95% CI: 63.97-99.81%), respectively, with negative and positive predictive values of 99.80 per cent (95% CI: 94.85-99.87%) and 96.31 per cent (95% CI: 62.87-98.84%), respectively.Interpretation & conclusions:Non-invasive foetal RHD determination by single-exon quantitative PCR exhibited high accuracy and could be used in routine clinical practice after confirmatory studies are done.

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“…Fetal blood and tissue are rarely required for prenatal diagnosis, and umbilical cord blood sampling and fetal biopsy are rarely performed for this indication. Analysis of cell-free DNA from maternal plasma has been used for prenatal testing for a number of DNA abnormalities or traits, such as Rh type, but cell-free DNA testing still is considered to be a screening method and is not sufficiently accurate to be considered diagnostic for any indication (14,15).…”

Section: Amniocentesismentioning

confidence: 99%

Practice Bulletin No. 162

2016

Obstetrics &Amp; Gynecology

235

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Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Although it is necessary to perform amniocentesis or chorionic villus sampling (CVS) to definitively diagnose most genetic disorders, in some circumstances, fetal imaging with ultrasonography, echocardiography, or magnetic resonance imaging may be diagnostic of a particular structural fetal abnormality that is suggestive of an underlying genetic condition.The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and any testing should be focused on the individual patient's risks, reproductive goals, and preferences. It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing. It also is important that patients realize that there is a broad range of clinical presentations, or phenotypes, for many genetic disorders and that results of genetic testing cannot predict all outcomes. Prenatal genetic testing has many benefits, including reassuring patients when results are normal, identifying disorders for which prenatal treatment may provide benefit, optimizing neonatal outcomes by ensuring the appropriate location for delivery and the necessary personnel to care for affected infants, and allowing the opportunity for pregnancy termination.The purpose of this Practice Bulletin is to review the current status of prenatal genetic diagnostic testing and the evidence supporting its use. For information regarding screening for fetal aneuploidy, refer to Practice Bulletin No. 163, Screening for Fetal Aneuploidy.

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Diagnostic accuracy of non-invasive fetal RhD genotyping using cell-free fetal DNA: a meta analysis

Abstract: Non-invasive fetal RhD genotyping from maternal blood has high accuracy, sensitivity and specificity. METHODS reducing false results have been explored and applied in research. These achievements indicate that this technique will be widely used in routine clinical care.

Cited by 29 publications

References 28 publications

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

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

Non-invasive prenatal rhesus D genotyping using cell-free foetal DNA

Practice Bulletin No. 162

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