Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies

Traeger-Synodinos, Joanne; Vrettou, Christina; Kanavakis, Emmanuel

doi:10.1586/erm.11.7

Cited by 20 publications

(22 citation statements)

References 104 publications

(127 reference statements)

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“…Future prospects for NIPD include its continued expansion to cover a greater range of disorders, including hemoglobinopathies [22] and fetal and/or neonatal alloimmune thrombocytopenia [23]. The technology also continues to advance beyond qualitative PCR for specific fetal sequences, to include DNA arrays for common SNPs associated with beta-thalassemia [24] and microfluidics digital PCR for relative mutation dosage in hemophilia [25].…”

Section: Nipd Of Fetal Sex and Monogenic Disordersmentioning

confidence: 99%

Recent advances in the prenatal interrogation of the human fetal genome

Hui

Bianchi

2013

Trends in Genetics

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The amount of genetic and genomic information obtainable from the human fetus during pregnancy is accelerating at an unprecedented rate. Two themes have dominated recent technological advances in prenatal diagnosis: interrogation of the fetal genome in increasingly high resolution and the development of non-invasive methods of fetal testing using cell-free DNA in maternal plasma. These two areas of advancement have now converged with several recent reports of non-invasive assessment of the entire fetal genome from maternal blood. However, technological progress is outpacing the ability of the healthcare providers and patients to incorporate these new tests into existing clinical care, and further complicates many of the economic and ethical dilemmas in prenatal diagnosis. This review summarizes recent work in this field and discusses the integration of these new technologies into the clinic and society.

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Section: Nipd Of Fetal Sex and Monogenic Disordersmentioning

confidence: 99%

Recent advances in the prenatal interrogation of the human fetal genome

Hui

Bianchi

2013

Trends in Genetics

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“…For such situations targeted molecular methods are appropriate, selected according to the population‐specific mutation spectrum(s). However, when laboratory infrastructure and expertise allows, more generic methods, such as direct sequencing (for point mutations) and Multiplex Ligation‐dependent Probe Amplification, MLPA (for larger deletions or duplications), are becoming more widely applied, and are particularly relevant to address sample genotyping in multiethnic societies that have resulted from more recent trends of global migration .…”

Section: Conventional Prenatal Diagnosismentioning

confidence: 99%

“…For such situations targeted molecular methods are appropriate, selected according to the population-specific mutation spectrum(s). However, when laboratory infrastructure and expertise allows, more generic methods, such as direct sequencing (for point mutations) and Multiplex Ligation-dependent Probe Amplification, MLPA (for larger deletions or duplications), are becoming more widely applied, and are particularly relevant to address sample genotyping in multiethnic societies that have resulted from more recent trends of global migration [6,7]. In PND, absolute accuracy is fundamental, and is potentially supported by any molecular method, as long as there is strict adherence to the highest laboratory standards (Traeger-Synodinos J, Harteveld CL, Old J, Petrou M, Giordano PC, Galanello R, Angastiniotis M, De la Salle B, in preparation).…”

Section: Conventional Prenatal Diagnosismentioning

confidence: 99%

Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies

Traeger-Synodinos

2013

Int J Lab Hematology

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Summary Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) both represent highly important reproductive choices for couples with a high risk of transmitting a severe disease, such as a severe hemoglobinopathy. Conventional PND for hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has been applied for around 30 years, but the major disadvantages with this approach include ‘invasive’ fetal sampling, and the potential involvement of pregnancy termination when affected. In comparison, the major advantage of PGD over conventional PND is that it supports the initiation of unaffected pregnancies, avoiding the need to terminate affected pregnancies. However, it is a multistep technically demanding procedure requiring the close collaboration of experts from several fields. PGD is also limited by the need to involve assisted reproduction, even in couples without fertility problems. Furthermore, even for fertile couples, pregnancy rates rarely surpass 30–35%. Both PND and PGD have advantages and drawbacks. Before embarking on either procedure, couples should be carefully counseled by experts so that they can select the option most appropriate for them. Finally, whatever their choice, it is paramount that both prenatal and PGD be applied with the highest standards of clinical, laboratory, and ethical practice.

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“…They are caused by mutations that affect genes that coordinate the synthesis of the globin chains of hemoglobin (Hb), thereby resulting in absence or reduced synthesis (thalassemia and hereditary persistence of fetal hemoglobin) or structural changes (sickle cell disease, Hb C, Hb D and Hb E, among others). 1,2 Sickle cell disease and thalassemia are among the commonest hemoglobinopathies. These diseases may occur in isolation or together and cause a wide range of disorders of varying severity.…”

Section: Introductionmentioning

confidence: 99%

“…1,3 The prevalence of hemoglobinopathies varies according to the region and the ethnic composition of the population. In some countries in Europe, Africa and Asia, where there is high incidence of hemoglobinopathies, it is a public health concern, considering that thousands of children are born with these genetic disorders annually.…”

Section: Introductionmentioning

confidence: 99%

Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

Carlos

Souza

et al. 2015

Sao Paulo Med. J.

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CONTEXT AND OBJECTIVE: Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program. DESIGN AND SETTING: Cross-sectional study conducted in a public referral hospital in the Triângulo Mineiro region, Minas Gerais, Brazil. METHODS: Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins. RESULTS: There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (β-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants. CONCLUSIONS: These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and β-thal hemoglobinopathies. RESUMO CONTEXTO E OBJETIVO:As hemoglobinopatias estão entre as alterações genéticas mais comuns e mundialmente difundidas, variando conforme a composição étnica e/ou geográfica. Nosso objetivo foi verificar a incidência de hemoglobinopatias por métodos de triagem laboratorial e sua associação com a etnia em 1.004 recém-nascidos. TIPO DE ESTUDO E LOCAL: Estudo transversal; realizado em um hospital público de referência do Triângulo Mineiro, Minas Gerais, Brasil. MÉTODOS: Avaliação qualitativa das hemoglobinas foi realizada por eletroforese em acetato de celulose: em pH alcalino para identificação do perfil hemoglobínico, em pH ácido para diferenciação das Hb S da Hb D e Hb C da Hb E, e outras que migrem em posições semelhantes em pH alcalino e em pH neutro para detecção de Hb Bart's, identificada na talassemia alfa (α-thal); e avaliação quantitativa das hemoglobinas pelo método de eluição após eletroforese. RESULTADOS: Houve predomínio da α-thal, com 105 (10,46%) casos, seguida da Hb S, com 61 casos (6,08% -46 Hb AS, 2 Hb SS e 13 Hb S/α-thal), 9 casos (0,9%) de Hb AC e 6 (0,6%) sugestivos de betatalassemia (β-thal). A incidência de hemoglobinopatias foi significantemente maior em afrodescendentes. CONCLUSÕES: Esses achados reforçam a importância do Programa Nacional de Triagem Neonatal para o diagnóstico das síndromes falciformes e hemoglobinopatias C, D, E e β-thal e robustecem os dados da literatura sobre a necessidade da pesquisa da α-thal em sangue de cordão (não identificada pelo Programa Nacional) e em pacientes com anemia ...

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Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies

Cited by 20 publications

References 104 publications

Recent advances in the prenatal interrogation of the human fetal genome

Recent advances in the prenatal interrogation of the human fetal genome

Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies

Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

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