title: Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.
abstract: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. Survival to reproductive age and beyond is now the norm. Several manifestations of this syndrome, such as congenital cardiac disease and neuropsychiatric disorders, may increase risk for adverse pregnancy outcomes in the general population. However, there are limited data on reproductive health in 22q11.2DS. We performed a retrospective chart review for 158 adults with 22q11.2DS (75 male, 83 female; mean age 34.3 years) and extracted key variables relevant to pregnancy and reproductive health. We present four illustrative cases as brief vignettes. There were 25 adults (21 > age 35 years; 21 female) with a history of one or more pregnancies. Outcomes for women with 22q11.2DS, 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, prenatal planning, and preparation for possible high-risk pregnancy and/or delivery.
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.|Undergraduate Medical Education, Department of Medicine, University of Toronto, Toronto, ON, Canada.
authors.forename: Chrystal
authors.initials: C
authors.lastname: Chan
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.|Undergraduate Medical Education, Department of Medicine, University of Toronto, Toronto, ON, Canada.
authors.forename: Gregory
authors.initials: G
authors.lastname: Costain
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
authors.forename: Lucas
authors.initials: L
authors.lastname: Ogura
authors.affiliation: Division of Cardiology, Department of Medicine, University Health Network, Toronto, ON, Canada.|Toronto Congenital Cardiac Centre for Adults, Toronto General Hospital, Toronto, ON, Canada.|Obstetric Medicine Program, Mount Sinai Hospital, Toronto, ON, Canada.
authors.forename: Candice K
authors.initials: CK
authors.lastname: Silversides
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.|Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
authors.forename: Eva W C
authors.initials: EW
authors.lastname: Chow
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada. anne.bassett@utoronto.ca.|Division of Cardiology, Department of Medicine, University Health Network, Toronto, ON, Canada. anne.bassett@utoronto.ca.|Toronto Congenital Cardiac Centre for Adults, Toronto General Hospital, Toronto, ON, Canada. anne.bassett@utoronto.ca.|Department of Psychiatry, University of Toronto, Toronto, ON, Canada. anne.bassett@utoronto.ca.|Department of Psychiatry, and Toronto General Research Institute, University Health Network, Toronto, ON, Canada. anne.bassett@utoronto.ca.|The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, ON, Canada. anne.bassett@utoronto.ca.
authors.forename: Anne S
authors.initials: AS
authors.lastname: Bassett
mesh_terms: D000328:Adult; D015897:Comorbidity; D004062:DiGeorge Syndrome / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D006330:Heart Defects, Congenital / Q000453:epidemiology; D006801:Humans; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology* / Q000235:genetics / Q000517:prevention & control; D011256:Pregnancy Outcome / Q000453:epidemiology* / Q000235:genetics; D011295:Prenatal Care / Q000706:statistics & numerical data; D060728:Reproductive Health / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D055815:Young Adult
keywords: Contraception; DiGeorge syndrome; Genomic disorder; Pregnancy complications; Prenatal testing; Velocardiofacial syndrome