Noninvasive Fetal RhD Blood Group Genotyping: A Systematic Review of Economic Evaluations

Gajić-Veljanoski, Olga; Li, Chunmei; Schaink, Alexis K.; Guo, Jennifer; Higgins, Caroline; Shehata, Nadine; Okun, Nanette; Vrijer, Barbra de; Pechlivanoglou, Petros; Ng, Vivian; Sikich, Nancy

doi:10.1016/j.jogc.2021.07.014

Cited by 4 publications

(6 citation statements)

References 30 publications

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“…8,11,33 Economic evaluations of noninvasive fetal RhD blood group genotyping mainly depend on the RHD genotyping costs, anti-D immunoglobulin costs, and RhD-negative allele frequencies. 34 cost of genotyping increased in our testing as maternal RHD genotyping was first performed on all RhD-negative pregnant women, but the cost of fetal phenotype prediction could be reduced by qPCR or high-throughput sequencing. As a preliminary exploration of fetal RHD genotyping for Chinese pregnant women with the RhD-negative phenotype, our sample size is insufficient to clearly examine the cost-effectiveness of fetal genotyping in alloimmunized pregnancies; hence, prospective large-scale trials are needed in the future.…”

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

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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%

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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“…Although several cost-effectiveness studies have been published, the results are inconsistent. 2,3 In nonalloimmunized pregnancies, some studies 4,5 found fetal RhD genotyping to be cost-saving, while several other studies [6][7][8][9] suggested that the testing may not be cost-effective, depending on the test cost. 9,10 No research has elucidated the cost-effectiveness of this intervention for the targeted management of alloimmunized pregnancies solely.…”

Section: Introductionmentioning

confidence: 99%

“…9,10 No research has elucidated the cost-effectiveness of this intervention for the targeted management of alloimmunized pregnancies solely. 2 Therefore, we examined the cost-effectiveness of noninvasive fetal RhD genotyping followed by targeted treatment compared with usual care in both nonalloimmunized and alloimmunized RhD-negative pregnancies in Canada.…”

Section: Introductionmentioning

confidence: 99%

“…Although several cost‐effectiveness studies have been published, the results are inconsistent 2,3 . In nonalloimmunized pregnancies, some studies 4,5 found fetal RhD genotyping to be cost‐saving, while several other studies 6–9 suggested that the testing may not be cost‐effective, depending on the test cost 9,10 .…”

Section: Introductionmentioning

confidence: 99%

“…In nonalloimmunized pregnancies, some studies 4,5 found fetal RhD genotyping to be cost‐saving, while several other studies 6–9 suggested that the testing may not be cost‐effective, depending on the test cost 9,10 . No research has elucidated the cost‐effectiveness of this intervention for the targeted management of alloimmunized pregnancies solely 2 . Therefore, we examined the cost‐effectiveness of noninvasive fetal RhD genotyping followed by targeted treatment compared with usual care in both nonalloimmunized and alloimmunized RhD‐negative pregnancies in Canada.…”

Section: Introductionmentioning

confidence: 99%

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Cost‐effectiveness of noninvasive fetal RhD blood group genotyping in nonalloimmunized and alloimmunized pregnancies

Gajić-Veljanoski¹,

Li²,

Schaink³

et al. 2022

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Background We sought to determine the cost‐effectiveness of noninvasive fetal RhD blood group genotyping in nonalloimmunized and alloimmunized pregnancies in Canada. Study design and methods We developed two probabilistic state‐transition (Markov) microsimulation models to compare fetal genotyping followed by targeted management versus usual care (i.e., universal Rh immunoglobulin [RhIG] prophylaxis in nonalloimmunized RhD‐negative pregnancies, or universal intensive monitoring in alloimmunized pregnancies). The reference case considered a healthcare payer perspective and a 10‐year time horizon. Sensitivity analysis examined assumptions related to test cost, paternal screening, subsequent pregnancies, other alloantibodies (e.g., K, Rh c/C/E), societal perspective, and lifetime horizon. Results Fetal genotyping in nonalloimmunized pregnancies (at per‐sample test cost of C$247/US$311) was associated with a slightly higher probability of maternal alloimmunization (22 vs. 21 per 10,000) and a reduced number of RhIG injections (1.427 vs. 1.795) than usual care. It was more expensive (C$154/US$194, 95% Credible Interval [CrI]: C$139/US$175‐C$169/US$213) and had little impact on QALYs (0.0007, 95%CrI: −0.01–0.01). These results were sensitive to the test cost (threshold achieved at C$88/US$111), and inclusion of paternal screening. Fetal genotyping in alloimmunized pregnancies (at test cost of C$328/US$413) was less expensive (‐C$6280/US$7903, 95% CrI: ‐C$6325/US$7959 to ‐C$6229/US$7838) and more effective (0.19 QALYs, 95% CrI 0.17–0.20) than usual care. These cost savings remained robust in sensitivity analyses. Discussion Noninvasive fetal RhD genotyping saves resources and represents good value for the management of alloimmunized pregnancies. If the cost of genotyping is substantially decreased, the targeted intervention can become a viable option for nonalloimmunized pregnancies.

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Clinical Validation of a Prenatal Cell-Free DNA Screening Test for Fetal RHD in a Large U.S. Cohort

Gilstrop Thompson,

Xu,

Moore

et al. 2024

Obstetrics &Amp; Gynecology

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OBJECTIVE: To present a large U.S. clinical validation of a next-generation sequencing–based, noninvasive prenatal cell-free DNA test for fetal RHD. METHODS: This clinical validation study assessed the performance of a commercially available, next-generation sequencing–based cell-free DNA test for fetal RHD status. Samples that passed quality metrics were included if the patient had a previously reported cell-free DNA result for fetal aneuploidy, maternal RhD-negative serology, newborn RhD serology, and maternal RHD deletion or RHD-CE-D hybrid(r's) genotype. Dizygotic twin pregnancies were excluded. Maternal and fetal RHD genotypes were evaluated with prospective cell-free DNA next-generation sequencing analysis. At the time of analysis, investigators were blinded to fetal RhD status. RESULTS: The cohort consisted of 655 pregnant patients with serologic results for RhD antigen. Patient demographics included a representative distribution of race and ethnicities in the RhD-negative U.S. population (74.0% White, 13.7% Hispanic, 7.0% Black, and 2.1% Asian). Cell-free DNA fetal RHD was not reported in two cases. There were zero false-negative cases; 356 of 356 fetuses were correctly identified as fetal RhD positive (sensitivity 100%, 95% CI, 98.9–100%). Of the 297 RhD-negative fetuses, 295 were correctly identified as RhD negative (specificity 99.3%, 95% CI, 97.6–99.8%). Of the fetuses with a negative RhD phenotype, the cell-free DNA test accurately identified three with the fetal RHD pseudogene (RHDΨ) genotype. CONCLUSION: Validation of this test in this large U.S. cohort of RhD-negative patients provides data on early and accurate noninvasive prenatal identification of fetal RHD genotype at 9 weeks of gestation or more. This test has the potential to assist patients and clinicians in the prevention and management of RhD alloimmunization.

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Noninvasive Fetal RhD Blood Group Genotyping: A Systematic Review of Economic Evaluations

Cited by 4 publications

References 30 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

Cost‐effectiveness of noninvasive fetal RhD blood group genotyping in nonalloimmunized and alloimmunized pregnancies

Clinical Validation of a Prenatal Cell-Free DNA Screening Test for Fetal RHD in a Large U.S. Cohort

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