Noninvasive Prenatal Diagnosis of Fetal RHD Status Using Cell-free Fetal DNA in Maternal Plasma

Ahmadi, Mohammad Hossein; Pourfathollah, Ali Akbar; Rabiei, Maryam; Amirizadeh, Naser

doi:10.18502/jri.v23i2.8998

Cited by 2 publications

(2 citation statements)

References 24 publications

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“…Since fetal cell‐free DNA was demonstrated in maternal blood, qPCR has been widely used to predict the fetal RHD genotype and RhD phenotype 23,24 . In a systematic review of 30 studies on fetal RHD genotyping, the sensitivity was 99.3% (95% confidence interval [CI] 98.2–99.7) and specificity was 98.4% (95% CI 96.4–99.3) 25 . The presence of RHD variants carried by pregnant women was an important interference factor for the accuracy of fetal RhD phenotype prediction.…”

Section: Discussionmentioning

confidence: 99%

“…23,24 In a systematic review of 30 studies on fetal RHD genotyping, the sensitivity was 99.3% (95% confidence interval [CI] 98.2-99.7) and specificity was 98.4% (95% CI 96.4-99.3). 25 The presence of RHD variants carried by pregnant women was an important interference factor for the accuracy of fetal RhD phenotype prediction. Previous studies attempted to improve the accuracy of RHD fetal genotyping by optimizing PCR primers or analyzing more gene fragments, [26][27][28] but it was still unfit for pregnant women carrying the RHD(1227G>A) allele.…”

Section: Discussionmentioning

confidence: 99%

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Noninvasive screening of fetal RHD genotype in Chinese pregnant women with serologic RhD‐negative phenotype

Duan,

Li,

Jiang

et al. 2023

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BackgroundNoninvasive fetal RHD genotyping has been provided to nonimmunized RhD‐negative pregnant women to guide anti‐D prophylaxis. Among the Chinese, more than 30% of the RhD‐negative phenotype is associated with variant RHD alleles, which would limit the accuracy of fetal RHD status prediction; thus, more targeting and proper programs need to be developed.Study Design and MethodsFluorescence quantitative polymerase chain reaction PCR (qPCR) or Sanger sequencing on all RHD exons was used to detect maternal RHD genotypes. For pregnant women with RHD*01N.01 or RHD*01N.03 alleles, the presence of RHD exons 5 and 10 in cell‐free DNA was determined by qPCR. For pregnant women with the RHD(1227G>A) allele, high‐throughput sequencing on exon 9 of the RHD gene and RHCE gene was used to predict fetal RhD phenotype.ResultsAmong 65 cases of Chinese pregnant women with the serologic RhD‐negative phenotype, three major genotypes were identified: RHD*01N.01/RHD*01N.01 (61.5%), RHD*01N.01/RHD(1227G>A) or RHD*01N.03/RHD(1227G>A) (20%), and RHD*01N.01/RHD*01N.03 (13.8%), along with three cases of minor genotypes (4.6%). For 43 pregnant women with the RHD*01N.01 or RHD*01N.03 alleles, qPCR on maternal cell‐free DNA yielded a 98.5% (42/43) accuracy rate and 100% successful prediction rate. High‐throughput sequencing was successfully used to predict fetal RhD phenotypes for 13 pregnant women with RHD(1227G>A).ConclusionOn the basis of maternal RHD genotyping, fetal genotyping through qPCR or high‐throughput sequencing can improve the accuracy and success rate of prenatal fetal RhD phenotype prediction among Chinese pregnant women. It plays a potential role in guiding anti‐D prophylaxis and pregnancy management in Chinese pregnant women.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Noninvasive screening of fetal RHD genotype in Chinese pregnant women with serologic RhD‐negative phenotype

Duan,

Li,

Jiang

et al. 2023

Transfusion

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Antenatal RHD screening to guide antenatal anti-D immunoprophylaxis in non-immunized D– pregnant women

Clausen

2024

Immunohematology

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In pregnancy, D– pregnant women may be at risk of becoming immunized against D when carrying a D+ fetus, which may eventually lead to hemolytic disease of the fetus and newborn. Administrating antenatal and postnatal anti-D immunoglobulin prophylaxis decreases the risk of immunization substantially. Noninvasive fetal RHD genotyping, based on testing cell-free DNA extracted from maternal plasma, offers a reliable tool to predict the fetal RhD phenotype during pregnancy. Used as a screening program, antenatal RHD screening can guide the administration of antenatal prophylaxis in non-immunized D– pregnant women so that unnecessary prophylaxis is avoided in those women who carry a D– fetus. In Europe, antenatal RHD screening programs have been running since 2009, demonstrating high test accuracies and program feasibility. In this review, an overview is provided of current state-of-the-art antenatal RHD screening, which includes discussions on the rationale for its implementation, methodology, detection strategies, and test performance. The performance of antenatal RHD screening in a routine setting is characterized by high accuracy, with a high diagnostic sensitivity of ≥99.9 percent. The result of using antenatal RHD screening is that 97–99 percent of the women who carry a D– fetus avoid unnecessary prophylaxis. As such, this activity contributes to avoiding unnecessary treatment and saves valuable anti-D immunoglobulin, which has a shortage worldwide. The main challenges for a reliable noninvasive fetal RHD genotyping assay are low cell-free DNA levels, the genetics of the Rh blood group system, and choosing an appropriate detection strategy for an admixed population. In many parts of the world, however, the main challenge is to improve the basic care for D– pregnant women.

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Noninvasive Prenatal Diagnosis of Fetal RHD Status Using Cell-free Fetal DNA in Maternal Plasma

Cited by 2 publications

References 24 publications

Noninvasive screening of fetal RHD genotype in Chinese pregnant women with serologic RhD‐negative phenotype

Noninvasive screening of fetal RHD genotype in Chinese pregnant women with serologic RhD‐negative phenotype

Antenatal RHD screening to guide antenatal anti-D immunoprophylaxis in non-immunized D– pregnant women

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