Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives

Thain, Emily; Shuman, Cheryl; Miller, Kristen; Sappleton, Karen; Myles-Reid, Diane; Chitayat, David; Gibbons, Clare

doi:10.1002/jgc4.1150

Cited by 15 publications

(24 citation statements)

References 35 publications

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“…A number of genetic counselling outcomes identified pertained to when and under what context RGCS should be offered. Of the reviewed articles, 14 identified preconception over early pregnancy as the ideal time to offer RGCS [ 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 ]. Amongst these 14 studies, all four participant groups were in favour of preconception carrier screening.…”

Section: Resultsmentioning

confidence: 99%

“…Interestingly, this outcome was restricted to RGCS user studies, including three prospective user and six retrospective user studies. In contrast, 41% of all reviewed articles highlighted the importance of RGCS education and training programs for HCPs, including around a third of prospective [ 32 , 38 ] and retrospective user studies [ 24 , 28 , 31 , 34 , 39 , 40 , 41 ], over 80% of genetic HCP studies [ 30 , 42 , 43 , 44 , 45 ] and 67% of non-genetic HCP studies [ 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ].…”

Section: Resultsmentioning

confidence: 99%

“…There were three studies that identified HCPs lacking in knowledge and confidence regarding RGCS as an area for concern [ 43 , 45 , 46 ]. Nineteen per cent of the reviewed articles, all of which were retrospective user studies, found that the attitude of the HCP offering RGCS can influence patient decision-making in relation to the uptake of screening and subsequent reproductive decisions [ 26 , 34 , 35 , 36 , 41 , 48 , 53 ]. Almost 40% of the studies, including eight retrospective user [ 26 , 28 , 31 , 34 , 39 , 40 , 48 , 49 ], 5 genetic HCP [ 27 , 30 , 43 , 45 , 57 ] and two non-genetic HCP [ 31 , 46 ] studies referred to the importance or underutilization of referral to genetic HCPs for at-risk or carrier couples or individuals following RGCS.…”

Section: Resultsmentioning

confidence: 99%

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Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

Edwards

Laing

2022

JPM

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Reproductive genetic carrier screening provides individuals and couples with information regarding their risk of having a child affected by an autosomal recessive or X-linked recessive genetic condition. This information allows them the opportunity to make reproductive decisions in line with their own beliefs and values. Traditionally, carrier screening has been accessed by family members of affected individuals. In recent years, improvements to accessibility and updates to recommendations suggest that all women planning or in early pregnancy should be offered reproductive genetic carrier screening. As uptake moves towards the population scale, how can the genetic counselling needs of such large-scale screening be met? A scoping review of the literature was performed to ascertain what the genetic counselling needs of reproductive genetic carrier screening are, and what future research is needed. Four broad themes were identified in the existing literature: (1) The offer—when and in what context to offer screening; (2) Information—the importance of and what to include in education, and pre- and post-test counselling; (3) Who and how—who the genetic counselling is performed by and how; (4) Personalization—how do we find the balance between standardized and individualized approaches? Based on the existing literature, we present a set of recommendations for consideration in implementing population-scale reproductive genetic carrier screening as well as suggested areas for future research.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

Edwards

Laing

2022

JPM

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“…Consanguinity is associated with significantly increased rates of inherited metabolic disorders in certain communities, such as families of Pakistani, Turkish, Afghan, or Arab origin [41]. Premarital and preconceptional counseling are warranted for consanguineous couples [42,43].…”

Section: Discussionmentioning

confidence: 99%

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

Kenneson

Singh

2020

Orphanet J Rare Dis

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Background N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and mortality. Since its recognition in 1981, NAGS deficiency has been treated with carbamylglutamate with or without other measures (nutritional, ammonia scavengers, dialytic, etc.). We conducted a systematic literature review of NAGS deficiency to summarize current knowledge around presentation and management. Methods Case reports and case series were identified using the Medline database, as well as references from other articles and a general internet search. Clinical data related to presentation and management were abstracted by two reviewers. Results In total, 98 cases of NAGS deficiency from 79 families, in 48 articles or abstracts were identified. Of these, 1 was diagnosed prenatally, 57 were neonatal cases, 34 were post-neonatal, and 6 did not specify age at presentation or were asymptomatic at diagnosis. Twenty-one cases had relevant family history. We summarize triggers of hyperammonemic episodes, diagnosis, clinical signs and symptoms, and management strategies. DNA testing is the preferred method of diagnosis, although therapeutic trials to assess response of ammonia levels to carbamylglutamate may also be helpful. Management usually consists of treatment with carbamylglutamate, although the reported maintenance dose varied across case reports. Protein restriction was sometimes used in conjunction with carbamylglutamate. Supplementation with citrulline, arginine, and sodium benzoate also were reported. Conclusions Presentation of NAGS deficiency varies by age and symptoms. In addition, both diagnosis and management have evolved over time and vary across clinics. Prompt recognition and appropriate treatment of NAGS deficiency with carbamylglutamate may improve outcomes of affected individuals. Further research is needed to assess the roles of protein restriction and supplements in the treatment of NAGS deficiency, especially during times of illness or lack of access to carbamylglutamate.

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“…[22][23][24] Competent genetic counselling services and community-level genetic literacy interventions are greatly needed. [25][26][27] There are community programs that detect carriers of hemoglobinopathies, such as thalassemia and sickle cell anemia, through the implementation of premarital screening in some middle east countries, including Saudi Arabia. [28][29][30][31][32] However, in Saudi Arabia, 90% of couples at risk of having affected children still decided to marry; this means that any risk factor would be stand still.…”

Section: Introductionmentioning

confidence: 99%

Relationship Between Consanguineous Marriages and Incidence and Severity of Refractive Errors: A Cross-sectional Study

Alsaqr¹

2019

IJOVS

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Congenital and genetic ocular disorders are linked to parental consanguinity. The aims was to investigate the effects of consanguineous marriages on the refractive errors of preschool-aged and adolescent patients. Two sample groups were recruited: the preschooler group (3-6 years; 335 participants) and the adolescent group (12-20 years; 998 participants). The required sample size was calculated using a sample size estimation software. Visual acuity was measured using the 15-line Lea symbols chart in the pre-school aged group and non-illuminated ETDRS VA chart in the adolescent group. Spherical equivalent refractive errors were noted with near-retinoscopy technique in young children and with the ARK-30 autorefractor in the adolescent group. In order to explore the impact of consanguineous marriages, the data were analyzed separately based on the age group using SPSS version 21 software. In the preschooler group, myopia was found in 4.2%, hyperopia in 8.1%, and astigmatism in 20%. Three children had high myopic scores (-10.00 D, -13.50 D and -17.50 D). In the adolescent group, 45.6% participants were myopic, 3.8% were hyperopic, and 22.3% were astigmatic. Despite the higher frequency of RE in those 15 years and older in the cousins group and the consanguineous parents of the three preschool-aged children with high myopia, there were no statistically significant (p>0.05) evidence that consanguineous marriages impact the refractive errors of their children. In conclusion, despite previous studies showing a link between ocular genetic or congenital disorders and consanguinity, no such link could be established with regard to refractive errors.

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Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives

Cited by 15 publications

References 35 publications

Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

Relationship Between Consanguineous Marriages and Incidence and Severity of Refractive Errors: A Cross-sectional Study

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