Acceptance of preimplantation genetic diagnosis for β‐thalassemia in Lebanese women with previously affected children

Farra, Chantal; Nassar, Anwar H.; Usta, Ihab M.; Salameh, Pascale; Souaid, Mirna; Awwad, Johnny

doi:10.1002/pd.2067

Cited by 25 publications

(19 citation statements)

References 17 publications

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“…There were studies which had investigated women's attitudes to PGD, including Pergament (1991) who found that the technology was more acceptable to women who had previous abnormal PND results and that the agreed major advantage of PGD was the avoidance of TOP. Participants in other studies included women at risk of transmitting thalassaemia (Palomba et al, 1994;Chamayou et al, 1998;Farra et al, 2008;Hui et al, 2002). These women generally found PGD preferable to PND with higher rates of approval from women who had experienced TOPs or who had an affected child.…”

Section: Context Of Other Studiesmentioning

confidence: 96%

The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents

2015

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Section: Context Of Other Studiesmentioning

confidence: 96%

The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents

2015

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“…In the few studies that have examined aspects of decision making surrounding PGD use, investigators worldwide have primarily targeted female partners (Farra et al, 2008; Hui et al, 2002; Karatas et al, 2010a; Miedzybrodzka et al, 1993; Pergament, 1991; Quinn et al, 2009) or have used hypothetical or prospective scenarios (Chamayou et al, 1998; Hui et al, 2002; Kalfoglou et al, 2005; Krones et al, 2005). Other scholars have provided recommendations or opinions as to how genetically at-risk couples should act toward PGD (Cameron & Williamson, 2003; de Wert, 2005; El-Toukhy et al, 2008; Offit et al, 2006; Watt, 2004).…”

Section: Introductionmentioning

confidence: 99%

The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: Initial findings from a grounded theory study

Hershberger¹,

Gallo²,

Kavanaugh³

et al. 2012

Social Science & Medicine

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Exponential growth in genomics has led to public and private initiatives worldwide that have dramatically increased the number of procreative couples who are aware of their ability to transmit genetic disorders to their future children. Understanding how couples process the meaning of being genetically at risk for their procreative life lags far behind the advances in genomic and reproductive sciences. Moreover, society, policy makers, and clinicians are not aware of the experiences and nuances involved when modern couples are faced with using Preimplantation Genetic Diagnosis (PGD). The purpose of this study was to discover the decision-making process of genetically at-risk couples as they decide whether to use PGD to prevent the transmission of known single-gene or sex-linked genetic disorders to their children. A qualitative, grounded theory design guided the study in which 22 couples (44 individual partners) from the USA, who were actively considering PGD, participated. Couples were recruited from June 2009 to May 2010 from the Internet and from a large PGD center and a patient newsletter. In-depth semi-structured interviews were completed with each individual partner within the couple dyad, separate from their respective partner. We discovered that couples move through four phases (Identify, Contemplate, Resolve, Engage) of a complex, dynamic, and iterative decision-making process where multiple, sequential decisions are made. In the Identify phase, couples acknowledge the meaning of their at-risk status. Parenthood and reproductive options are explored in the Contemplate phase, where 41% of couples remained for up to 36 months before moving into the Resolve phase. In Resolve, one of three decisions about PGD use is reached, including: Accepting, Declining, or Oscillating. Actualizing decisions occur in the Engage phase. Awareness of the decision-making process among genetically at-risk couples provides foundational work for understanding critical processes and aids in identifying important gaps for intervention and future research.

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“…Sixty-eight per cent of women considered PGD a better alternative to PND. The most important perceived advantage of PGD was the avoidance of termination of an affected pregnancy (Farra et al 2008) …”

Section: Prenatal Genetic Diagnosis For Haemoglobinopathies In Arab Cmentioning

confidence: 99%

Epidemiological profile of common haemoglobinopathies in Arab countries

2012

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Haemoglobinopathies including the thalassemias and sickle cell disease are known to be prevalent inherited disorders in most Arab countries with varying prevalence rates and molecular characterisation. β-thalassemia is encountered in polymorphic frequencies in almost all Arab countries with carrier rates of 1-11 % and a varying number of mutations. The most widespread mutation in Lebanon, Egypt, Syria, Jordan, Tunisia and Algeria is the IVS-I-110 (G>A). In the Eastern Arabian Peninsula, the Asian Indian mutations (IVS-I-5 (G>C), codons 8/9 (+G) and IVS-I (−25 bp del)) are more common. The α-thalassemias are encountered in the majority of Arab countries in frequencies ranging from 1 to 58 % with the highest frequencies reported from Gulf countries. The (−α 3.7 ) mutation is the most frequent followed by the non-deletional α2 polyadenylation signal mutation (AATAAA>AATAAG) and the α2 IVS1 5-bp deletion. The rates of sickle cell trait in Arab countries range from 0.3 to 30 %, with the Benin, the Arab-Indian and the Bantu haplotypes constituting the bulk of the haplotypes, leading to two major phenotypes; a mild one associated with the Arab-Indian and a severe one with the Benin and Bantu haplotypes. Public health approaches targeting prevention of haemoglobinopathies in Arab countries include newborn screening for sickle cell disease, and premarital screening for carriers of β-thalassemia and sickle cell disease. These services are still patchy and inadequate in many Arab countries recommending the upgrade of these services with strengthening of the education and training of health care providers and raising public awareness on the feasibility of prevention and care for haemoglobinopathies.

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Acceptance of preimplantation genetic diagnosis for β‐thalassemia in Lebanese women with previously affected children

Abstract: PGD is an acceptable alternative to conventional prenatal diagnosis in women at risk of conceiving a child affected with beta-thalassemia. This is particularly true in countries of the Middle-East where therapeutic abortions for fetal indications are prohibited by the law and religion.

Cited by 25 publications

References 17 publications

The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents

The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents

The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: Initial findings from a grounded theory study

Epidemiological profile of common haemoglobinopathies in Arab countries

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