Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

Daniels, Geoff; Finning, Kirstin; Martin, Pauline; Massey, Edwin

doi:10.1002/pd.2172

Cited by 146 publications

(132 citation statements)

References 68 publications

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“…17 The latter methodology has found broad appeal due to its noninvasive approach. 18 For pregnancies at risk of HDFN due to maternal alloimmunization and possible fetal RBC expression of the cognate antigen, prenatal care by maternal-fetal medicine physicians is recommended. A detailed maternal history is useful to determine previous pregnancy outcomes, particularly for past stillbirths or hydropic fetal losses, and potential etiology of the offending red cell antibody.…”

Section: Diagnosismentioning

confidence: 99%

Hemolytic disease of the fetus and newborn: managing the mother, fetus, and newborn

Delaney

Matthews

2015

Hematology

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Hemolytic disease of the fetus and newborn (HDFN) affects 3/100 000 to 80/100 000 patients per year. It is due to maternal blood group antibodies that cause fetal red cell destruction and in some cases, marrow suppression. This process leads to fetal anemia, and in severe cases can progress to edema, ascites, heart failure, and death. Infants affected with HDFN can have hyperbilirubinemia in the acute phase and hyporegenerative anemia for weeks to months after birth. The diagnosis and management of pregnant women with HDFN is based on laboratory and radiographic monitoring. Fetuses with marked anemia may require intervention with intrauterine transfusion. HDFN due to RhD can be prevented by RhIg administration. Prevention for other causal blood group specificities is less studied. Learning Objectives• Explain the fetal and infant clinical findings associated with hemolytic disease of the fetus and newborn (HDFN) • Describe the approach to pregnancy management when a mother has red cell alloimmunization • Discuss the prevention strategies for HDFN Hemolytic disease of the fetus and newborn (HDFN) is rare condition that occurs when maternal red blood cell (RBC) or blood group antibodies cross the placenta during pregnancy and cause fetal red cell destruction. The fetal physiological consequences of severe anemia in the fetus can also lead to edema, ascites, hydrops, heart failure, and death. In less severe cases, the in utero red cell incompatibility can persist postnatally with neonatal anemia due to hemolysis, along with hyperbilirubinemia and erythropoietic suppression. Epidemiology and pathophysiologyThere are an estimated 3/100 000 to 80/100 000 cases of HDFN per year in the United States. 1 The maternal blood group antibodies that cause HDFN can be naturally occurring ABO antibodies (isohemagglutinins), or develop after exposure to foreign RBC; the latter are called blood group alloantibodies. For HDFN to occur, the fetus must be antigen positive (paternally inherited) and the mother must be antigen negative. Several studies have investigated the prevalence of red cell sensitization. In a large series of 22 102 females in the US, 254 (1.15%) of the women were found to have a red cell alloantibodies, of whom 18% had more than one alloantibody. 2 In the Netherlands, the prevalence of red cell alloantibodies detected in the first trimester was 1.2%. 3 The most common cause of blood group incompatibility results from the ABO blood group system, with incompatibility present in up to 20% of infants. 4 However, because anti-ABO antibodies are predominantly IgM class, most are not effectively transported across the placenta. In addition, the A and B antigens are not well developed on fetal red blood cells. Together, this results in a low rate of clinically severe HDFN due to ABO compatibility, although

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Section: Diagnosismentioning

confidence: 99%

Hemolytic disease of the fetus and newborn: managing the mother, fetus, and newborn

Delaney

Matthews

2015

Hematology

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“…Thus, determination of fetal RhD phenotype by noninvasive fetal RHD genotyping during pregnancy has a strong impact on the management of RhD-negative pregnant women (Finning et al, 2008;Minon et al, 2008;Müller et al, 2008;Daniels et al, 2009;Mannessier, 2009). The frequency of RHD-positive and -negative fetuses was 56.3 and 33.3%, respectively, as predicted by PCR (and confirmed at birth).…”

Section: Discussionmentioning

confidence: 99%

Noninvasive fetal RHD genotyping from maternal plasma in an admixed Brazilian population

Schmidt¹,

Cabral²,

Faria³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. We evaluated the efficacy of noninvasive fetal Rhesus D (RHD) genotyping from maternal plasma in a highly admixed population. Fifty-five blood samples from RhD-negative pregnant women from Brazil were processed for extraction of cell-free plasma DNA. Realtime PCR was performed to amplify segments of exons 5 and 7 from the RHD gene, as well as for detection of the SRY gene to confirm the presence of fetal DNA. Fetal genotyping results were compared with the RhD phenotype determined from newborn cord blood samples obtained at birth. Thirty-two samples were RHD-positive, 18 were RHD-negative and 5 were inconclusive due to amplification of only one RHD exon. In 43 samples, the fetal RHD genotype was compared to the neonatal RhD phenotype, and only one result was discordant, due to false-negative serology. There was one false SRY genotyping negative result. We conclude that noninvasive fetal RHD genotyping from maternal blood provides accurate results and suggests its viability as a clinical tool for the management of RhD-negative pregnant women in an admixed population.

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“…If the fetus is RhD negative, it is unnecessary to administer IgG anti-D at 28 weeks gestation or perform RhD alloimmunization prevention in cases of potentially sensitising events (Table 1) [24][25][26][27] .…”

Section: Establishing Rhd Genotype Of the Fetusmentioning

confidence: 99%

PREVENTION OF RhD ALLOIMMUNIZATION IN RhD NEGATIVE WOMEN

Ľubušký¹

2010

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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Background. Despite the introduction of anti-D prophylaxis into clinical practice, RhD alloimmunization still presents a problem to date. The actual incidence of RhD alloimmunization in pregnant women remains unknown in most countries. Anti-D immunoglobulin is administered to RhD negative women at a fixed dose and in much greater amounts than is actually necessary. On the other hand, it is not possible to diagnose cases where greater doses are needed. To optimize the prevention of RhD alloimmunization in RhD negative women, it is important to diagnose conditions that lead to fetomaternal hemorrhage (FMH), precisely determine the volume and subsequently administer the appropriate dose of anti-D immunoglobulin. The possibility to accurately detect FMH and precisely determine its volume would enable more effective and less costly prevention of RhD alloimmunization. Anti-D immunoglobulin could be administered only in indicated cases and only in doses essentially necessary for prevention of RhD alloimmunization.Methods and results. The Cochrane and UpToDate databases of systematic reviews, as well as national guidelines, were reviewed.Conclusions. Due to the medical significance and indispensable economic costs associated with prevention of RhD alloimmunization, it would be appropriate to establish exact methodical guidelines. The text itself should be limited to a list of potentially sensitising events during which anti-D immunoglobulin should be administered to RhD negative women if anti-D antibodies are not already present. Following each potentially sensitising event, the minimal dose of anti-D immunoglobulin necessary for prevention of RhD alloimmunization should be determined. After 20 weeks of gestation, the volume of FMH should also be determined to specify the necessary dose of anti-D immunoglobulin.

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Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

Cited by 146 publications

References 68 publications

Hemolytic disease of the fetus and newborn: managing the mother, fetus, and newborn

Hemolytic disease of the fetus and newborn: managing the mother, fetus, and newborn

Noninvasive fetal RHD genotyping from maternal plasma in an admixed Brazilian population

PREVENTION OF RhD ALLOIMMUNIZATION IN RhD NEGATIVE WOMEN

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