Abstract
ObjectiveRecessive genetic diseases impose physical and psychological impacts to both newborns and parents who may not be aware of being carriers. Expanded carrier screening (ECS) allows screening for multiple genetic conditions at the same time. Whether or not such non-targeted panethnic approach of genetic carrier screening should replace the conventional targeted approach remains controversial. There is limited data on view and acceptance of ECS in general population, as well as the optimal timing of offering ECS to women. This study assesses views and acceptance of ECS in both pregnant women and non-pregnant women seeking fertility counseling or checkup and their reasons for accepting or declining ECS.Materials and methodsThis is a questionnaire survey with ECS information in the form of pamphlets distributed from December 2016 to end of 2018. Women were recruited from the antenatal clinics and the assisted reproductive unit at the Department of Obstetrics and Gynaecology, Queen Mary Hospital and the prepregnancy counseling clinic at the Family Planning Association of Hong Kong.ResultsA total of 923 women were recruited: 623 pregnant women and 300 non-pregnant women. There were significantly more non-pregnant women accepting ECS compared to pregnant women (70.7% vs. 61.2%). Eight hundred and sixty-eight (94%) women perceived ECS as at least as effective as or superior to traditional targeted screening. Significantly more pregnant women have heard about ECS compared with non-pregnant women (42.4% vs. 32.3%, P = 0.0197). Majority of women showed lack of understanding about ECS despite reading pamphlets that were given to them prior to filling in the questionnaires. Cost of ECS was a major reason for declining ECS, 28% (n = 256). Significantly more pregnant women worried about anxiety caused by ECS compared with the non-pregnant group (21.1% vs. 7.4%, P = 0.0006).ConclusionOur study demonstrates that expanded carrier screening was perceived as a better screening by most women. Prepregnancy ECS maybe a better approach than ECS during pregnancy, as it allows more reproductive options and may cause less anxiety. Nevertheless, implementation of universal panethnic ECS will need more patient education, ways to reduce anxiety, and consensus on optimal timing in offering ECS.
Highlights
Recessive genetic diseases impose physical and psychological impacts on both newborns and parents
The questionnaire included questions on whether they had heard of expanded carrier screening (ECS), their first impression on ECS compared to the conventional ethnic-targeted screening, how they felt about undertaking ECS, whether they will or will not accept to receive ECS and their reasons, and their basic demographics
The American College of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) published a joint statement in 2015 stating the acceptability of ECS as a carrier screening test, on the other hand emphasizing its complexities in choice of disease to be screened, as well as pre- and post-test counseling (Edwards et al, 2015)
Summary
Recessive genetic diseases impose physical and psychological impacts on both newborns and parents. These parents are often not aware of being carriers, and unexpected birth of affected babies will strike them hard and may lead to delayed diagnoses or delayed treatment for the babies. The risk of having a newborn with an autosomal recessive disorder was estimated to range from 1.7 to 30 in one thousand neonates (Baird et al, 1988; United Nations Scientific Committee on the Effects of Atomic Radiation, 1994; Sankaranarayanan, 1998), and foreseeably will further increase as those with diseases are living longer as technology advances. Prevalence of α-thalassemia and β-thalassemia carrier is 7.8% and 2.2%, respectively, in Chinese population (Lai et al, 2017)
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