New Perspectives in Prenatal Diagnosis of Sickle Cell Anemia

Yenilmez, Ebru Dündar; Tuli, Abdullah

doi:10.5772/64646

Cited by 7 publications

(9 citation statements)

References 31 publications

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“…Lower fetal losses are documented for centers having experience in performing these procedures. A higher number of attempts, presence of fetal structural abnormalities, underlying placental disorders, uterine malformations, and fibroids are associated with increased chances of fetal loss following the procedure ( 9 , 10 ). The high risk of fetal loss with cordocentesis as reported in literature was consistent with our observation of fetal loss after two cordocentesis procedures.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

et al. 2020

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Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

et al. 2020

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“…Furthermore, there is no specific screening test for the clear identification of heterozygote α-thalassaemia. Only molecular DNA analysis could give certain results in rare mutations [23,24].…”

Section: Molecular Methodsmentioning

confidence: 99%

Invasive and Noninvasive Approaches in Prenatal Diagnosis of Thalassemias

Tuli¹,

Yenilmez²

2018

Thalassemia and Other Hemolytic Anemias

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Thalassemia is a significant health problem worldwide. There are two main classifications, α-and β-thalassemias, which are usually caused by the defective synthesis of the α-globin, and which are commonly caused by different mutations of the β-globin chain. Different hemoglobin mutations have been identified to date. Thalassemias can result in profound anemia from early life and, if not treated with regular blood transfusions, can lead to death in the first year. Prenatal diagnosis of thalassemia is the essential part of preventive medicine and is currently dependent on the use of invasive diagnostic tests within the first 2 months of pregnancy. These diagnostic techniques carry a small but significant risk of fetal loss up to 1%. Molecular diagnostic methods have been developed for genotyping thalassemias based on PCR techniques and high-throughput technologies. Noninvasive tests using cell-free DNA (cfDNA) from a maternal blood sample is also an alternative method, thus eliminating the risk of miscarriage. This chapter summarizes the current invasive approaches and the noninvasive methods using cell-free fetal DNA as new molecular diagnostic methods for genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling, and prenatal diagnosis are discussed.

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“…The old invasive traditional methods such as Chorionic villus sampling (CVS amniocentesis, and cordocentesis) are currently replaced by non-invasive prenatal diagnosis (NIPD) with the revelation of cell-free fetal DNA (cffDNA) in maternal plasma and serum. This technique has the potential of identifying the fetal sex, fetal Rhesus D and paternal alleles in maternal plasma of SCD using highresolution melting (HRM) analysis [40].…”

Section: The Primary Preventive Stepmentioning

confidence: 99%

Beyond the Legislation for Sickle Cell Disease Prevention - Getting the Right Outcomes

Nwabuko¹

2019

AJIM

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This study aimed at highlighting benefits derivable from legislation for Sickle cell disease (SCD) prevention using the three levels of health legislative power (primary, secondary and tertiary). It was an evidence-based integrative review of 54 references related to SCD, epidemiology, management, and legislation for its control over the past three decades . Two keywords (SCD and Legislation/Policy) were used as search strategy to identify the problem, intervention, and outcome evaluation of the research questions. MeSH, Medline, CINAHL, PubMed, Cochrane Database Systematic Review, Google Scholar and African Journal Online were search databases reviewed. The expected outcomes were categorized into three levels of benefits. They were primary, secondary and tertiary categories of benefit. While the primary category would institutionalize pre-genetic counseling in the health institutions, the secondary and tertiary groups would establish screening (prenatal and newborn)/comprehensive care and curative interventions (i.e., investigational therapies and stem cell transplantation) respectively for people living with SCD. These interventions will enhance SCD surveillance, screening, auditing, health needs assessment, treatment, control, and prevention in the target audience. Conclusions The legislation for Sickle Cell Disease prevention in the target population would promote early disease detection, treatment, and prevention. We expect that with an increase in case ascertainment, the disability-adjusted life year (DALY) would reduce so also other complications. This legislation will diffuse new innovations in SCD management and research which will ultimately improve the health indices of people living with the disease globally.

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New Perspectives in Prenatal Diagnosis of Sickle Cell Anemia

Cited by 7 publications

References 31 publications

Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

Invasive and Noninvasive Approaches in Prenatal Diagnosis of Thalassemias

Beyond the Legislation for Sickle Cell Disease Prevention - Getting the Right Outcomes

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