Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

Abstract

Correspondence to: Anne S. Bassett. Conflict of Interest StatementsChrystal Chan, Gregory Costain, Lucas Ogura, Candice K. Silversides, Eva W.C. Chow, and Anne S. Bassett declare that they have no conflict of interest.Human Studies and Informed Consent All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study. .2DS, compared with expectations for the general population, showed a significantly elevated prevalence of small for gestational age liveborn offspring (p<0.001), associated mainly with infants with 22q11.2DS. Stillbirths also showed elevated prevalence (p<0.05). Not all observed adverse events appeared to be attributable to transmission of the 22q11.2 deletion. Recurring issues relevant to reproductive health in 22q11.2DS included the potential impact of maternal morbidities, inadequate social support, unsafe sexual practices, and delayed diagnosis of 22q11.2DS and/or lack of genetic counseling. These preliminary results emphasize the importance of early diagnosis and long term follow-up that could help facilitate genetic counseling for men and women with 22q11.2DS. We propose initial recommendations for pre-conception management, educational strategies, pre-natal planning, and preparation for possible high-risk pregnancy and/or delivery. Animal Studies

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review

“…Thirteen studies revealed negative and positive emotions experienced amongst families, caregivers, and patients (Bales et al, 2010a; Briegel et al, 2008; Chan et al, 2015; Costain et al, 2012; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Karas et al, 2014; Klingberg et al, 2010; Okashah et al, 2015; Phillips et al, 2017; Reilly et al, 2015). Three subthemes were identified: emotions experienced by parents and caregivers, emotional experiences faced by siblings, shared emotional experiences.…”

“…Still, patients stated the importance of family support in emotional and practical aspect of living with the disability, in particular, mothers were seen as the primary supporter (Phillips et al, 2017). Contrastingly, inadequate social support was evident in the family and/or spouse of patients who experienced pregnancy and child birth; some were estranged from their families (Chan et al, 2015). …”

“…Six studies were qualitative in nature (Bales et al, 2010a; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Klingberg et al, 2010; Phillips et al, 2017), seven used mixed methods (Butcher et al, 2012; Chan et al, 2015; Cohen et al, 2017; Hercher & Bruenner, 2008; Karas et al, 2014; Martin et al, 2012; Okashah et al, 2015), and two exclusively quantitative papers were included (Briegel et al, 2008; Reilly et al, 2015). Qualitative methods used included interviews, surveys, and questionnaires.…”

“…The 14 included studies were conducted between 2008 and 2017 (Bales et al, 2010a; Briegel et al, 2008; Chan et al, 2015; Cohen, McCartney, & Crampin, 2017; Costain, Chow, Ray, & Bassett, 2012; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Karas, Costain, Chow, & Bassett, 2014; Klingberg, Hallberg, & Óskarsdóttir, 2010; Martin et al, 2012; Okashah et al, 2015; Phillips, Goodwin, Johnson, & Campbell, 2017; Reilly et al, 2015), with the majority published between 2016 and 2017 ( n  = 5).…”

“…Six studies focused on experiences of parents and/or caregivers ( n  = 5) (Briegel et al, 2008; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Klingberg et al, 2010; Reilly et al, 2015), two studies focused exclusively on patients ( n  = 2) (Chan et al, 2015; Phillips et al, 2017), and one study focused on sibling (Goodwin, Alam, et al, 2017). Sample sizes ranged from 5 to 158; sample size largely dependent on study methodology.…”