Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types

Hyland, Catherine A.; Millard, Glenda; O’Brien, Helen; Schoeman, Elizna M.; Lopez, Genghis H.; McGowan, Eunike C.; Tremellen, Anne; Puddephatt, Rachel; Gaerty, Kirsten; Flower, Robert L.; Hyett, Jonathan; Gardener, Glenn

doi:10.1016/j.pathol.2017.08.010

Cited by 19 publications

(19 citation statements)

References 33 publications

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“…No studies of the diagnostic-therapeutic chain were identified. 70 studies on diagnostic accuracy including approximately 66,000 participants were identified (all in bibliographic databases), of which the 12 largest (including over 90% of the total study population) were included in the analysis [5,[17][18][19][20][21][22][23][24][25][26][27][28]. Two controlled intervention studies investigating the benefit (prevention of sensitization) of antenatal anti-D prophylaxis were identified (in bibliographic databases).…”

Section: Resultsmentioning

confidence: 99%

Targeted antenatal anti-D prophylaxis for RhD-negative pregnant women: a systematic review

Runkel

Bein

Sieben

et al. 2020

BMC Pregnancy Childbirth

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Background: All non-sensitized Rhesus D (RhD)-negative pregnant women in Germany receive antenatal anti-D prophylaxis without knowledge of fetal RhD status. Non-invasive prenatal testing (NIPT) of cell-free fetal DNA in maternal plasma could avoid unnecessary anti-D administration. In this paper, we systematically reviewed the evidence on the benefit of NIPT for fetal RhD status in RhD-negative pregnant women. Methods: We systematically searched several bibliographic databases, trial registries, and other sources (up to October 2019) for controlled intervention studies investigating NIPT for fetal RhD versus conventional anti-D prophylaxis. The focus was on the impact on fetal and maternal morbidity. We primarily considered direct evidence (from randomized controlled trials) or if unavailable, linked evidence (from diagnostic accuracy studies and from controlled intervention studies investigating the administration or withholding of anti-D prophylaxis). The results of diagnostic accuracy studies were pooled in bivariate meta-analyses. Results: Neither direct evidence nor sufficient data for linked evidence were identified. Meta-analysis of data from about 60,000 participants showed high sensitivity (99.9%; 95% CI [99.5%; 100%] and specificity (99.2%; 95% CI [98.5%; 99.5%]). Conclusions: NIPT for fetal RhD status is equivalent to conventional serologic testing using the newborn's blood. Studies investigating patient-relevant outcomes are still lacking.

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Section: Resultsmentioning

confidence: 99%

Targeted antenatal anti-D prophylaxis for RhD-negative pregnant women: a systematic review

Runkel

Bein

Sieben

et al. 2020

BMC Pregnancy Childbirth

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“…Non‐invasive prenatal testing (NIPT) of cell‐free fetal (cff) DNA in maternal plasma determines whether the target paternal blood group allele has been inherited, thus predicting whether the fetus is at risk for HDFN. NIPT has proven reliable for fetal RHD genotyping for D‐negative pregnant women (Finning et al , ; Mackie et al , ; Hyland et al , ). Conventional real‐time PCR allows ready detection of fetal RHD sequences because the RHD gene is deleted on the D‐negative haplotype in the majority of cases (Colin et al , ).…”

Section: Primer and Probe Sequences For Droplet Digital Pcr Assaysmentioning

confidence: 99%

Non‐invasive prenatal testing (NIPT) for fetal Kell, Duffy and Rh blood group antigen prediction in alloimmunised pregnant women: power of droplet digital PCR

et al. 2020

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“…However, although the current study estimated that more than 2 million doses of IgG anti-Rh(D) should be administered annually in High Income countries to provide both antenatal and post-partum immunoprophylaxis, we found that only~1.7 million doses were actually administered annually. Nonetheless, it is possible that this difference is somewhat overestimated, because some High Income countries use non-invasive fetal Rh(D) genotyping programs to limit antenatal immunoprophylaxis to cases where the fetus is genotyped as Rh(D)-positive [24].…”

Section: Discussionmentioning

confidence: 99%

Hemolytic disease of the fetus and newborn due to Rh(D) incompatibility: A preventable disease that still produces significant morbidity and mortality in children

Pégoraro¹,

Urbinati²,

Visser

et al. 2020

PLoS ONE

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In the mid-20 th century, Hemolytic Disease of the Fetus and Newborn, caused by maternal alloimmunization to the Rh(D) blood group antigen expressed by fetal red blood cells (i.e., "Rh disease"), was a major cause of fetal and neonatal morbidity and mortality. However, with the regulatory approval, in 1968, of IgG anti-Rh(D) immunoprophylaxis to prevent maternal sensitization, the prospect of eradicating Rh disease was at hand. Indeed, the combination of antenatal and post-partum immunoprophylaxis is~99% effective at preventing maternal sensitization to Rh(D). To investigate global compliance with this therapeutic intervention, we used an epidemiological approach to estimate the current annual number of pregnancies worldwide involving an Rh(D)-negative mother and an Rh(D)-positive fetus. The annual number of doses of anti-Rh(D) IgG required for successful immunoprophylaxis for these cases was then calculated and compared with an estimate of the annual number of doses of anti-Rh(D) produced and provided worldwide. Our results suggest that~50% of the women around the world who require this type of immunoprophylaxis do not receive it, presumably due to a lack of awareness, availability, and/or affordability, thereby putting hundreds of thousands of fetuses and neonates at risk for Rh disease each year. The global failure to provide this generally acknowledged standard-of-care to prevent Rh disease, even 50 years after its availability, contributes to an enormous, continuing burden of fetal and neonatal disease and provides a critically important challenge to the international health care system.

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Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types

Cited by 19 publications

References 33 publications

Targeted antenatal anti-D prophylaxis for RhD-negative pregnant women: a systematic review

Targeted antenatal anti-D prophylaxis for RhD-negative pregnant women: a systematic review

Non‐invasive prenatal testing (NIPT) for fetal Kell, Duffy and Rh blood group antigen prediction in alloimmunised pregnant women: power of droplet digital PCR

Hemolytic disease of the fetus and newborn due to Rh(D) incompatibility: A preventable disease that still produces significant morbidity and mortality in children

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