Fetal RHD Genotyping from Circulating Cell-Free Fetal DNA in Plasma of Rh Negative Pregnant Women in Iran

Ahmadi, Mohammad Hossein; Hantuoshzadeh, Sedigheh; Okhovat, Mohammad Ali; Nasiri, Nahid; Azarkeivan, Azita; Amirizadeh, Naser

doi:10.1007/s12288-015-0616-0

Cited by 5 publications

(4 citation statements)

References 37 publications

(40 reference statements)

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“…In the process of publishing this review the search was re‐run from April 2015 to September 2015, in view of the rapid progression in this area. This yielded 78 new citations, of which 11 additional papers would be eligible for inclusion, with 10 191 women in total . These studies examine fetal sex ( n = 436 women), rhesus D status ( n = 2965), trisomy 21 ( n = 6661), trisomy 18 ( n = 6701), trisomy 13 ( n = 6495), and monosomy X ( n = 40), which equate to a small proportion of additional tests, compared with the studies that we have already analysed.…”

Section: Discussionmentioning

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

216

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: Discussionmentioning

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

216

160

View full text Add to dashboard Cite

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“…Most developed countries perform prenatal RhD genotyping and prophylaxis is given only after fetal RhD positive genotype in an RhD-negative mother is determined. The robotic systems [ 14 – 16 ] as well as qPCR are utilized in these countries for highly accurate fetal RhD genotyping [ 17 , 18 ]. However, these methods are not only expensive but also unavailable in most developing countries.…”

Section: Discussionmentioning

confidence: 99%

Fetal Rhesus D Genotyping and Sex Determination from Maternal Plasma of Rhesus D-Negative Antenatal Population: The Usefulness of Conventional Polymerase Chain Reaction in Resource-limited Settings

Addai‐Mensah

Afriyie

Sakyi

et al. 2020

Obstetrics and Gynecology International

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Background. This prospective cohort study evaluated the usefulness of conventional PCR in genotyping fetal Rhesus D (RhD) and sex from the maternal plasma of RhD-negative (RhD−) antenatal population in resource-limited settings. Methods. Thirty apparently healthy RhD− pregnant women with RhD positive (RhD+) partners were included. Blood samples were collected from each participant (in the third trimester of pregnancy) for DNA extraction/purification and fetal RhD genotyping. Results. Out of the 30 samples, 26 (86.7%) were found to be RhD+ while 4 (13.3%) were RhD−. The RhD+ comprised 24 (80.0%) RhD+ based on exons 5, 7, and 10 combined. Exons 5 and 7 were detected in two additional samples but not exon 10. Serological phenotyping of neonatal blood confirmed 26 RhD+ and 4 RhD−. There was a perfect agreement between the fetal RhD genotype and neonatal RhD phenotyping after delivery for exons 5 and 7 (concordance = 100%, κ = 100.0%, diagnostic accuracy = 100%, p < 0.0001 ) while exon 10 presented with an almost perfect agreement (concordance = 93.3%, κ = 76.2%, diagnostic accuracy = 93.3%, p < 0.0001 ). Regarding the prenatal test for the SRY gene, 9 (30.0%) were predicted to be males and the remaining 21 (60.0%) were females. All the 9 and 21 anticipated males and females, respectively, were confirmed after delivery (concordance = 100%, κ = 100.0%, diagnostic accuracy = 100%). Conclusion. Our study suggests that conventional PCR using the SRY, RhD exons 5 and 7 could be useful for predicting fetal sex and RhD from maternal peripheral blood in resource-limited settings.

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“…The Rh-negative phenotype was confirmed via a Real-time PCR method using specific primers 16 . RT-PCR was performed in a volume of 25 µl in 30 cycles using a thermal cycler (Rotor-Gene, RG3000, Corbett, Australia) and RealQ Plus 2x Master Mix Green (Ampliqon, Copenhagen, Denmark) under the following conditions:…”

Section: Methodsmentioning

confidence: 99%

RHD Genotyping of Rh-Negative and Weak D Phenotype among Blood Donors in Southeast Iran

Sadeghi-Bojd¹,

Amirizadeh²,

Oodi³

2021

IJHOSCR

Self Cite

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Background: The D antigen is a subset of Rh blood group antigens involved in the hemolytic disease of the newborn [HDFN] and hemolytic transfusion reaction [HTR]. The hybrid Rhesus box that was created after RH gene deletion, was known as a mechanism of the Rh-negative phenotype. Hybrid marker identification is used to confirm the deletion of the RHD gene and to determine zygosity. This study aims to detect this marker in Rh-negative and weak D phenotype blood donors of the southeast of Iran. Materials and Methods: The molecular analysis of the hybrid Rhesus box was performed on the 200 Rh-negative blood donors in Sistan and Baluchestan province, southeast Iran. The presence of alleles responsible for the D variants was assessed by DNA sequencing in 26 weak D phenotype donors. Results: Of the 200 Rh-negative blood samples, 198 samples were homozygous (99%), and two samples were heterozygous (1%). Heterozygous samples had RHD*01N.73 allele and the RHD*01N.18 allele. Of the 26 samples with weak D phenotype, 16 partial DLO (61%), 4 partial DBT1 (15.3%), 2 partial DV type 2 (7.7%), 1 weak D type 1, 1 weak D type 4.2.3, 1weak D type 105 and 1 RHD (S103P) (4%) were determined. Conclusion: Since RHD gene deletion is the main mechanism of the Rh-negativity in Sistan and Baluchestan provinces, a hybrid Rhesus box marker can be used in resolving RhD typing discrepancies by RHD genotyping methods.

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Fetal RHD Genotyping from Circulating Cell-Free Fetal DNA in Plasma of Rh Negative Pregnant Women in Iran

Cited by 5 publications

References 37 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

Fetal Rhesus D Genotyping and Sex Determination from Maternal Plasma of Rhesus D-Negative Antenatal Population: The Usefulness of Conventional Polymerase Chain Reaction in Resource-limited Settings

RHD Genotyping of Rh-Negative and Weak D Phenotype among Blood Donors in Southeast Iran

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