Noninvasive Antenatal Determination of Fetal Blood Group Using Next-Generation Sequencing

Rieneck, Klaus; Clausen, Frederik Banch; Dziegiel, Morten Hanefeld

doi:10.1101/cshperspect.a023093

Cited by 14 publications

(15 citation statements)

References 18 publications

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“…In parallel, cirDNA had become of interest in another clinical domain: in 1997, Lo et al showed that DNA of fetal origin circulated in the blood of pregnant women [ 25 ], permitting the early identification of fetal genetic anomalies, such as Down syndrome [ 28 ], through a simple maternal blood sample and to avoid amniocentesis and other invasive techniques that presented risks and complications. Analysis of fetal cirDNA from maternal blood collection additionally affords both sex and Rhesus factor determination [ 29 , 30 ]. Concerning the field of medically assisted procreation, extracellular DNA analysis is promising: at the moment, pre-implantation diagnosis is made by aspiration of one or two cells from the embryo, imposing traumatic risks and consequences for the implantation of the embryos [ 31 ].…”

Section: The Origin Of the Cirdna Conceptmentioning

confidence: 99%

Origins, structures, and functions of circulating DNA in oncology

Thierry¹,

Messaoudi²,

Gahan³

et al. 2016

Cancer Metastasis Rev

624

604

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While various clinical applications especially in oncology are now in progress such as diagnosis, prognosis, therapy monitoring, or patient follow-up, the determination of structural characteristics of cell-free circulating DNA (cirDNA) are still being researched. Nevertheless, some specific structures have been identified and cirDNA has been shown to be composed of many “kinds.” This structural description goes hand-in-hand with the mechanisms of its origins such as apoptosis, necrosis, active release, phagocytosis, and exocytose. There are multiple structural forms of cirDNA depending upon the mechanism of release: particulate structures (exosomes, microparticles, apoptotic bodies) or macromolecular structures (nucleosomes, virtosomes/proteolipidonucleic acid complexes, DNA traps, links with serum proteins or to the cell-free membrane parts). In addition, cirDNA concerns both nuclear and/or mitochondrial DNA with both species exhibiting different structural characteristics that potentially reveal different forms of biological stability or diagnostic significance. This review focuses on the origins, structures and functional aspects that are paradoxically less well described in the literature while numerous reviews are directed to the clinical application of cirDNA. Differentiation of the various structures and better knowledge of the fate of cirDNA would considerably expand the diagnostic power of cirDNA analysis especially with regard to the patient follow-up enlarging the scope of personalized medicine. A better understanding of the subsequent fate of cirDNA would also help in deciphering its functional aspects such as their capacity for either genometastasis or their pro-inflammatory and immunological effects.

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Section: The Origin Of the Cirdna Conceptmentioning

confidence: 99%

Origins, structures, and functions of circulating DNA in oncology

Thierry¹,

Messaoudi²,

Gahan³

et al. 2016

Cancer Metastasis Rev

624

604

View full text Add to dashboard Cite

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“…We have recently reported a procedure based on nextgeneration sequencing (NGS) analysis of PCR-amplified cfDNA from maternal plasma for prediction of the fetal blood group [34][35][36][37]. As some fetuses may die from HDFN as early as GA 18 weeks, it is necessary to be able to predict the fetal blood group early in pregnancy.…”

Section: Non-invasive Prediction Of Fetal K Rhc Rhc Rhe and Abo Blood Groupmentioning

confidence: 99%

Laboratory Monitoring of Mother, Fetus, and Newborn in Hemolytic Disease of Fetus and Newborn

Dziegiel¹,

Krog²,

Hansen³

et al. 2021

Transfus Med Hemother

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Background: Laboratory monitoring of mother, fetus, and newborn in hemolytic disease of fetus and newborn (HDFN) aims to guide clinicians and the immunized women to focus on the most serious problems of alloimmunization and thus minimize the consequences of HDFN in general and of anti-D in particular. Here, we present the current approach of laboratory screening and testing for prevention and monitoring of HDFN at the Copenhagen University Hospital in Denmark. Summary: All pregnant women are typed and screened in the 1st trimester. This serves to identify the RhD-negative pregnant women who at gestational age (GA) of 25 weeks are offered a second screen test and a non-invasive fetal RhD prediction. At GA 29 weeks, and again after delivery, non-immunized RhD-negative women carrying an RhD-positive fetus are offered Rh immunoglobulin. If the 1st trimester screen reveals an alloantibody, antenatal investigation is initiated. This also includes RhD-positive women with alloantibodies. Specificity and titer are determined, the fetal phenotype is predicted by non-invasive genotyping based on cell-free DNA (RhD, K, Rhc, RhC, RhE, ABO), and serial monitoring of titer commences. Based on titers and specificity, monitoring with serial peak systolic velocity measurements in the fetal middle cerebral artery to detect anemia will take place. Intrauterine transfusion is given when fetal anemia is suspected. Monitoring of the newborn by titer and survival of fetal red blood cells by flow cytometry will help predict the length of the recovery of the newborn.

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“…In the Capital Region, we test for antenatal KEL and RHc type using DNA sequencing . In the Central Denmark Region, fetal RHc, RHC, RHE and KEL types have been tested since 2006 by real‐time PCR from gestational week 14, negative results are confirmed at gestational week 20.…”

Section: Denmarkmentioning

confidence: 99%