Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Abstract

Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.

Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing

“…Consistent with a shared‐decision model, questions may also elicit patient's values relating to pregnancy and parenting so counselors can engage with them in a discussion around these values to reach an informed and comfortable decision together . Such discussions may be especially important as beliefs and values about prenatal genetic testing, detectable conditions, and pregnancy termination vary both across and within cultures, and some important topics, such as raising a child with a disability, frequently remain undiscussed . Additional information about risks, procedures, and possible results could be provided through supplemental print or on‐line information, either before or after the genetic counseling session, thus allowing time to be spent on personalized education and decision‐making.…”

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

“…Despite these complexities, prospective parents often want all available information about their pregnancy, (Norton et al 2014; Turbitt et al 2015; Walser et al 2015; Willis et al, 2015; van der Steen et al 2015) although this may vary depending on culture and values (Alsulaiman et al 2012; Nahar et al 2013). When uncertain results are found, information may be poorly understood (Hillman et al 2015) and parents often experience distress (Bernhardt et al 2013; Werner-Lin et al 2015).…”

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

“…16 Early prenatal testing of hearing loss can give families more options for preparation and also allows time for laying the foundation for genetic therapy in the near future. [17][18][19] In this study, we used the trio strategy with either grandparents or proband, incorporating the GAHP and PAHP methods. Both methods could determine the correct parental haplotypes to provide the linkage relationship in order to deduce the inherited haplotype of the fetus, although the accuracy of PAHP was lower because of the accumulation of recombination in the offspring.…”