Noninvasive Fetal Blood Group Typing

Schoot, C. Ellen van der; Winkelhorst, Dian; Clausen, Frederik Banch

doi:10.1016/b978-0-12-814189-2.00008-6

Cited by 12 publications

(5 citation statements)

References 161 publications

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“…In the presented study, we tested 1%, 0.5%, 0.25% spike chimeric samples from genomic DNA of two blood donors with opposite K/k, Jka/b, Rhc, HPA-1, 5, 15 antigens and plasma DNA from 36 pregnant women at 9-33 gestation week, with known BG/HPA genotypes of their neonates (7) or partners (29), collected into EDTA classical or cfDNA tubes (Roche and Streck). Twenty-six women were immunized with: anti-K (10), anti-D (1), anti-D+C (1), anti-D+E+K (1), anti-D+C+K (1), anti-D +K (1), anti-D+C+G+S (1), anti-M (2), anti-HPA-1a (6), anti-HPA-3b (1), anti-HPA-15a (1); and 10 women (K-negative, HPA-1a-negative, HPA-3a-negative, HPA-3b-negative, Rhc-negative) were not immunized (details in Table 1).…”

Section: Patientsmentioning

confidence: 99%

“…4,5 Noninvasive prenatal testing (NIPT) of fetal antigen genotype based on real-time PCR protocols is implemented in many reference laboratories for women with clinically relevant antibodies such as anti-D from the Rh blood group (BG) system and identifies pregnancies with no risk of the disease. 6,7 But the technique does not permit to amplify specifically fetal single nucleotide variations (SNVs), being the molecular background of the majority of RBC and PLT antigens, in the highly concentrated maternal material, and there are limitations concerning estimation of cell-free fetal DNA (cffDNA) at the same workflow. [8][9][10] Also, NIPT based on next-generation sequencing (NGS) technology is known to detect fetal genetic material with some unspecific background.…”

Section: Introductionmentioning

confidence: 99%

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Prediction of fetal blood group antigens from maternal plasma using Ion AmpliSeq HD technology

et al. 2022

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Background Fetal blood group (BG) and platelet (HPA) antigens may trigger maternal immunization, causing a fetal disease. Noninvasive prenatal diagnostics (NIPT) predicts fetal genotype, identifying pregnancies with no risk. All current techniques detect fetal antigen alleles with unspecific background and without estimation of fetal fraction, thus new protocols for detection of fetal BG/HPA alleles with ultrahigh sensitivity still need to be tested to improve NIPT. Aim To design NIPT of clinically important antigens using Ion AmpliSeq HD technology. Methods Plasma DNA from 36 pregnant women (9–33 week of gestation, 24 immunized with anti‐HPA‐1a,‐3b,‐15a, ‐K, or ‐D+C+S), with known BG/HPA genotypes of their neonates/partners, was tested on Ion S5 System using the Ion AmpliSeq HD designer custom gene panel. NGS contained 25 rs‐targets encoding relevant BG/HPA antigens and 10 markers. Results Using the NGS protocol, 76 out of 85 differences in fetal/maternal BG/HPA genotypes were determined in concentration above 2% fetal paternally inherited allele chimerism. The level of unspecific reads for BG/HPA alleles was below 0.87%. In 24 immunized women NGS revealed feto‐maternal incompatibility in 11 cases (from 2.44% to 7.41%) and excluded in 10 (<0.05%), three cases had inconclusive results (1.79%, 0.19%, 0.11%). The presence of fetal DNA was confirmed in each case by detecting markers with at least 2% chimerism. Conclusion The use of Ion AmpliSeq HD technology improves the prediction of feto‐maternal incompatibility, increasing the sensitivity of BG/HPA NIPT and serving confirmation of the fetal DNA at the same workflow.

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Section: Patientsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prediction of fetal blood group antigens from maternal plasma using Ion AmpliSeq HD technology

et al. 2022

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“…cffDNA can serve as a pathological marker or be used to provide genetic material for personalized medicine (30). The utilization of cffDNA, which is present in the blood circulation of pregnant women (5), has modernized prenatal care for genetic disorders and aneuploidies (31,32); cffDNA has also been used for >20 years for fetal blood group prediction (9,33). It is considered that non-invasive prenatal diagnosis using fetal DNA in maternal blood may play an increasingly important role in the future practice of prenatal testing.…”

Section: Discussionmentioning

confidence: 99%

Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies

Koukou,

Panteris,

Manolakos

et al. 2024

Biomed Rep

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Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the maternal circulation have been demonstrated in abnormal pregnancies. However, the results are conflicting. The present study aimed to investigate whether cffDNA levels are associated with pregnancy complications. The study group comprised pregnant women who presented with pregnancy complications, such as preterm birth, gestational hypertension, intrauterine growth retardation, gestational diabetes, polyhydramnios, oligohydramnios, vaginal bleeding and placental abruption. The control group comprised women who had a normal pregnancy course. Blood samples were obtained from 500 pregnant women between 11-13 weeks of gestation. cffDNA was amplified, sequenced and analyzed using the next-generation aneuploidy test of a Panorama-Natera kit. Nuchal translucency (NT) thickness as well as pregnancy associated plasma protein-A (PAPP-A) and β-human chorionic gonadotropin (β-hCG) levels were also assessed. Statistical analysis was performed in 494 out of the 500 samples collected with SPSS v.26 using non-parametric methods. The parameters were normalized by the multiples of median (MoM) method. The expression levels of PAPP-A, β-hCG, and the NT mean MoM values were significantly different between the study and control groups (P=0.005, P<0.001 and P=0.007, respectively). However, the expression levels of cffDNA and the mean MoM values were not significantly different between these two groups (P=0.687). The findings of the present study support the conclusion that cffDNA expression is not altered in a series of pregnancy complications. The prognostic value of cffDNA in predicting adverse pregnancy outcomes requires further investigation.

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“…• the amplicon for C antigen phenotype quantifies a 109 nucleotide insert linked to SNV RHCE*C [23] (Figure 1b),…”

Section: Specificallymentioning

confidence: 99%

Validation of a Non-invasive Prenatal Test for Fetal RhD, C, c, E, Kell and FyA Antigens

Alford¹,

Landry²,

Hou³

et al. 2023

Preprint

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We developed and validated a next generation sequencing (NGS) based NIPT assay using quantitative counting template (QCT) technology to detect RhD, C, c, E, Kell, and Fya fetal antigen genotypes in the diverse U.S. population. The assay quantifies paternally derived fetal antigen cell free DNA molecules after calibration to fetal fraction and a reference gene. The assay correctly determined fetal antigen status for all 1087 preclinical samples; analytical sensitivity 100% (95% CI: 99-100%) and analytical specificity 100% (95% CI: 99-100%). The assay showed a clear separation between antigen detected and not detected for 15,939 clinical samples and a fetal antigen determination was made for all samples with RHD psi, a variant more common among RhD-negative Black individuals. The NIPT results were 100% concordant with neonatal antigen genotype/ serology for 27 clinical samples. This NGS-based fetal antigen NIPT assay had excellent performance in a validation study of samples from a diverse U.S. population for fetal fractions as low as 1.1% and as early as 10 weeks of gestation, without the need of a sample from the biological partner. Implementation of NIPT for the detection of fetal antigen in RhD-negative and alloimmunized pregnant individuals will streamline care and reduce unnecessary treatment, monitoring and patient anxiety.

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Noninvasive Fetal Blood Group Typing

Cited by 12 publications

References 161 publications

Prediction of fetal blood group antigens from maternal plasma using Ion AmpliSeq HD technology

Prediction of fetal blood group antigens from maternal plasma using Ion AmpliSeq HD technology

Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies

Validation of a Non-invasive Prenatal Test for Fetal RhD, C, c, E, Kell and FyA Antigens

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