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Views of adults with 22q11 deletion syndrome on reproductive choices

To the Editor: The 22q11 deletion syndrome (22q11DS, OMIM 611867) is one of the most common genomic disorders, affecting 1/2,500–1/4,000 people (Bassett et al., 2005). 22q11DS is a multisystem disorder associated with neuropsychiatric features (depression, anxiety, and schizophrenia), intellectual disability (85–90% of affected individuals), congenital heart disease, and endocrinopathies. In 90% of people with 22q11DS, the deletions have arisen de novo, while 10% are inherited. 22q11DS follows an autosomal dominant pattern of inheritance. Several reproductive medicine options are available for adults with 22q11DS who wish to have an unaffected child. Prenatal testing (with the option of termination of affected pregnancies) or preimplantation genetic diagnosis (PGD) is funded in the United Kingdom National Health Service (NHS). PGD involves testing an embryo (created by in vitro fertilization) at the blastocyst stage for the genetic variant causing a disease. Embryos which lack the genetic variant are then implanted. Around 30% of cycles will result in a live born baby free from the inherited disease in the family. Adverse pregnancy outcomes (including small for gestational age and stillbirth) have been documented in women with 22q11DS (Chan et al., 2015), but little is known about the opinions of people with 22q11DS on reproductive medicine options. The current study explored reproductive decision making and attitudes to reproductive genetic testing in adults with 22q11DS. An inductive qualitative design using semi-structured interviews was used, to explore the views of adults with 22q11DS on reproductive medicine options. Adults (>18 years) with 22q11DS (diagnosed by comparative genomic hybridization) were recruited from the Yorkshire and Humber Genome Medicine Service (15 were invited and 13 participated, 86% response rate). Research Ethics approval was granted by Leeds East Research Ethics Committee (16/YH/0026). The Standards for the Reporting of Qualitative Research guidelines were followed (O'Brien, Harris, Beckman, Reed, & Cook, 2014). Thirteen one-to-one interviews (Table 1) were performed based upon a semistructured interview guide (see Supplementary Data, Appendix S1). Interviews were audio recorded (with consent) and transcribed verbatim. Nvivo 12 was used for analysis. Framework analysis was undertaken (Gale, Heath, Cameron, Rashid, & Redwood, 2013). Line by line coding of the transcripts was undertaken, primarily by one author (AMcN). A second author (M.F.) repeated and reviewed the coding on 20% of the transcripts to achieve agreement on definition of codes. “Charting” was then performed to summarize interview data by code for each participant. Thematic saturation was reached after 13 interviews. An author with 22q11DS (R.L.) provided an expert by experience view on 22q11DS to comment on the face validity of the findings. After reviewing all 13 transcripts, 3 overarching themes emerged: (a) personal and family impact of 22q11DS, (b) attitudes toward reproductive medicine, and (c) lack of accessible information.