Prenatal <i>β</i>‐thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice

Cousens, Nicole E; Gaff, Clara; Delatycki, Martin B.; Metcalfe, Sylvia

doi:10.1002/pd.4297

Cited by 8 publications

(23 citation statements)

References 14 publications

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“… 109 In contrast, carrier screening for beta-thalassaemia in Australia occurs with every pregnant woman in a very ad hoc fashion (ie, through initial full blood examination) with little (if any) pre-test counselling and also minimal education even post test. 110 Consequently, thalassaemia carriers often misunderstand their status. 111 As testing becomes more common people will become aware that all individuals are carriers for a limited number of sequence variants and this may decrease anxiety.…”

Section: The Carrier Screening Testmentioning

confidence: 99%

Responsible implementation of expanded carrier screening

et al. 2016

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This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.

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Section: The Carrier Screening Testmentioning

confidence: 99%

Responsible implementation of expanded carrier screening

et al. 2016

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“…It is therefore recommended for all of the health care providers to be aware of the genetic screening tests available in their health care system and to receive training about the efficiency, the advantages and the disadvantages of each of the screening tests. This information should be available to women prior to pursuing them to engage in any screening tests as well ( Cousens, Gaff, Delatycki, & Metcalfe, 2014 ).…”

Section: Resultsmentioning

confidence: 99%

Factors Affecting Improved Prenatal Screening: A Narrative Review

Shahhosseini

Arabi

Salehi

et al. 2015

GJHS

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Background:Prenatal screening deals with the detection of structural and functional abnormalities in the fetus. Health care providers can minimize unintended pregnancy outcomes by providing proper counseling and performing prenatal screening. The purpose of the present review study is to investigate factors affecting improved prenatal screening.Methods:The present study is a narrative review searching public databases such as Google Scholar and specialized databases such as Pubmed, Magiran, Scientific Information Database, Elsevier, Ovid and Science Direct as well. Using the keywords “prenatal screening”, “fetus health” and “prenatal counseling”, 70 relevant articles published from 1994 to 2014 were selected. After reviewing the abstracts, the full data from 26 articles were ultimately used for writing the present review study.Results:Three general themes emerged from reviewing the studies: health care providers’ skills, clients’ characteristics and ethical considerations, which were the main factors affecting improved prenatal screening.Conclusion:Prenatal screening can be successful if performed by a trained and experienced expert through techniques suitable for the mother’s age. Also simultaneously providing proper counseling and giving a full description of the risks and benefits of the procedures for clients is recommended.

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“…It has been actively pursued in many countries, such as Cyprus (23), China (24), Taiwan (25), Iran (26), Turkey (2,27), USA (28), UK (29) and Australia (30). Prenatal diagnosis had a great success in decreasing the number of live births with b-thal major (b-TM) in these countries.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

et al. 2014

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Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-22 weeks' gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out. DNA analyses showed 14 affected fetuses (25.45%), 32 (58.18%) carriers and eight (14.54%) normal fetuses. It appears that 20.0% of individuals carried the sickle cell anemia mutation and 80.0% carried the β-thal mutation. Thirteen different known mutations were detected in the fetuses. The most common mutations were: IVS-II-1 (G > A), codon 39 (C > T)], IVS-I-110 (G > A), IVS-I-1 (G > A) and IVS-I-5 (G > C). The Hb S [β6(A3)Glu → Val; HBB: c.20A > T] mutation was the only abnormal hemoglobin (Hb) that was found. The results point to a successful future for PND of β-thal and sickle cell anemia in Syria, using a rapid and accurate molecular method. We hope that this method will be used as a common application approach to decrease the incidence of β-thal major (β-TM).

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Prenatal β‐thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice

Abstract: β-thalassemia screening in Victoria occurs with apparent lack of awareness of guidelines and an acknowledged preference for a more systematic process and educational support. Informed consent was not considered an important component of this screening process.

Cited by 8 publications

References 14 publications

Responsible implementation of expanded carrier screening

Responsible implementation of expanded carrier screening

Factors Affecting Improved Prenatal Screening: A Narrative Review

Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

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