Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

Gutensohn, K.; Müller, S; Thomann, Klaus-Dieter; Stein, W.; Suren, A.; Körtge-Jung, S; Schlüter, Gregor; Legler, T. J.

doi:10.1111/j.1471-0528.2010.02518.x

Cited by 40 publications

(30 citation statements)

References 35 publications

(47 reference statements)

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“…Due to interference of massive maternal DNA, it is difficult to identify the odd fetal chromosome. Therefore, cff DNA in maternal plasma was usually used in determination of X-linked genetic disordors, fetal RhD status, and some monogenetic diseases [12][13][14][15] . In order to use cff DNA for NIPD, real "fetal-phase-specific" DNA markers, which are highly specific, universal, and independent of sex or polymorphic, are needed.…”

Section: Discussionmentioning

confidence: 99%

Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma

Zhang

Chen

et al. 2011

J. Huazhong Univ. Sci. Technol. [Med. Sci.]

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This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma samples were collected from 388 singleton pregnancies, and placental or chorionic villus tissues from 112 of them. Methylation-specific PCR (MSP) and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR (MSRE + PCR) were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. Moreover, the differential methylation for each locus could be seen during the whole pregnant period. The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1% and 82.1% by MSP and 94.8% and 96.9% by MSRE + PCR. MSRE + PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences (P<0.05). Based on the data from 266 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies. The accuracy rate in 98 euploidy pregnancies was 96.9% (95/98). Three of the four trisomy 21 pregnancies were confirmed with this method. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.

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Section: Discussionmentioning

confidence: 99%

Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma

Zhang

Chen

et al. 2011

J. Huazhong Univ. Sci. Technol. [Med. Sci.]

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“…However, both patients never performed Rh-matched transfusion. Overall, it seems that RhCE-matched transfusion is simple and practicable in clinics in China compared to other countries such as France, Brazil, the US, or Thailand [17,24,27,37,38]. Moreover we would like to suggest that β-thalassemia patients in China should receive Rh subgroup-compatible blood from the beginning of transfusion therapy.…”

Section: Discussionmentioning

confidence: 99%

Rh-Matched Transfusion through Molecular Typing for β-Thalassemia Patients Is Required and Feasible in Chinese

Shao

Zhao

et al. 2018

Transfus Med Hemother

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Background: Molecular typing for RHCE blood group alleles has been established in many countries for patients and blood donors. In the Chinese literature nearly 80% of transfused patients with alloimmunization have antibodies specific for antigens of the Rh blood group system. We investigated if it is feasible to match packed red blood cells (RBCs) for Chinese β-thalassemia patients by RHCE genotyping. Methods: In this study, 481 patients with β-thalassemia were enrolled. They were genotyped for RHCE alleles by a simple PCR method with sequence-specific primers (PCR-SSP). Among these patients, 203 continuously received RBCs of the identical Rh subgroups according to the genotyping results for at least 3 months. Subsequently, their phenotypes were tested through a micro-column gel card method. For validation purposes, 400 donors were serologically typed with the same technology, of which 164 were genotyped too. Finally, the C, c, E, and e frequencies and the feasibility of the simple genotyping method were analyzed. Results: All patients showed mixed-field agglutination in the Rh subgroup gel cards before the same Rh subgroups in blood donors were selected for blood transfusion. The results, however, lacked mixed-field agglutination in all 203 cases after transfusion with RBC concentrates selected for the patient's C, c, E, and e antigens for at least 3 months. The genotyping results of 164 donors were all consistent with the serological results. Whole coding regions of RHCE were sequenced in 7 individuals with weak c, E, or e antigens. In only one sample we observed a 1059G>A nucleotide mutation coding for a truncated RhCE polypeptide (GenBank KT957625), in the other 6 samples no sequence variant was found. Both patients and donors were predominantly CcEe and CCee, with a prevalence of 55.3% and 24.9% for patients or 49.3% and 31.3% for donors, respectively. It revealed that about 80% of Chinese could receive Rh-matched RBCs easily. Conclusion: A simple RHCE genotyping technique is safe enough for Rh-matched transfusion of β-thalassemia patients in Chinese Han.

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“…In the light of this, a few studies have analyzed circulating cffDNA in maternal plasma for non-invasive prenatal RHCE and KEL genotyping and have demonstrated accurate test results [50,51].…”

Section: Fetal Rhesus D Genotypingmentioning

confidence: 99%

Fetal CNAPS – DNA/RNA

2014

Advances in Predictive, Preventive and Personalised Medicine

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The discovery of fetal circulating nucleic acids in maternal plasma and serum has revolutionized prenatal genetic testing by providing a non-invasive source of fetal genetic material. Since fetal DNA coexists with a high background of maternal DNA in the maternal plasma, early studies in the field have been focused on the detection of paternally inherited sequences that are absent from the maternal genome. This approach has been applied to fetal sex and blood type determination, as well as the detection of paternally inherited mutations causing single-gene disorders. The emergence of single molecule counting technologies, such as digital PCR and massively parallel sequencing, have allowed the detection of subtle allelic imbalances and the precise quantification of sequences in the maternal plasma. This precise quantification has enabled the deduction of maternally inherited fetal monogenic diseases, as well as the accurate detection of fetal chromosomal aneuploidies. While some of the applications of fetal circulating nucleic acid have been rapidly incorporated into clinical practice, a number of ethical, legal and social issues have been raised regarding the current and potential use of this technology. Overall, research on fetal circulating nucleic acids in maternal plasma and serum is a rapidly developing and exciting area. It is envisioned that the use of fetal circulating nucleic acids in maternal plasma and serum will play an increasingly important role in prenatal care.

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Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

Cited by 40 publications

References 35 publications

Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma

Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma

Rh-Matched Transfusion through Molecular Typing for β-Thalassemia Patients Is Required and Feasible in Chinese

Fetal CNAPS – DNA/RNA

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