Table 3.

Summary of reproductive health issues and suggested management strategies in adults with 22q11.2DS

Issue	Suggested management strategies to consider
Cardiac, endocrine, and neuropsychiatric morbidities of 22q11.2DS	Optimization of health conditions pre-conception (Bassett et al. 2011) Reassessment of treatment plan, considering the potential for disease exacerbations from pregnancy, teratogenicity of medications, patient non-adherence, and negative maternal and fetal consequences of untreated morbidities (Negro and Mestman 2011; Seeman 2013; Thorne 2004) Antenatal care, delivery, neonatal evaluation, and postpartum care in a high-risk obstetric center with an experienced multidisciplinary team (Bassett et al. 2011; Hatton et al. 2012; Seeman 2013) Appropriate screening during pregnancy, including early fetal echocardiogram to screen for congenital heart disease (Rasiah et al. 2006)
Social support	Awareness of potential sources of conflict between patient and partner/family (Finucane 2010; Karas et al. 2014) Tailoring of support based on the individual patient’s needs and his/her existing supports (e.g., social work, child care resources, child protection services, financial resources) (Butcher et al. 2012; Finucane 2010; Karas et al. 2014)
Sexual and reproductive health	Individualized education beginning in adolescence on healthy romantic relationships, personal safety, contraception (including standard considerations of medical contra-indications to specific modes of contraception and the individual’s ability to adhere to recommended management), sexually transmitted infections, pregnancy, and parenthood (Costain et al. 2011; Fantasia and Fontenot 2011; Moos et al. 2008) Education on all standard prenatal recommendations, including folate supplementation and smoking/alcohol cessation (Bassett and Chow 2008; Kirkham et al. 2005)
Genetic counseling	Increased awareness of, and index of suspicion for, 22q11.2DS to facilitate early diagnosis (Greenhalgh et al. 2003; Kapadia and Bassett 2008; Monteiro et al. 2013) Periodic, repeated counseling beginning in adolescence or at time of diagnosis (Bassett et al. 2011; Finucane 2010) Comprehensive counseling with education on: the risk of transmission of the 22q11.2 deletion; the early and later-onset manifestations, and the intra-familial phenotypic variability, of 22q11.2DS; prenatal diagnosis options, including pre-implantation genetic diagnosis, chorionic villus sampling, and amniocentesis; preparation for pregnancy, delivery, and parenthood (Bassett et al. 2011; McDonald-McGinn and Zackai 2008) Strategies to increase understanding of counseling: use of developmentally appropriate language and concepts (e.g., minimization of topics such as risk and probability if the patient has difficulty understanding abstract concepts); suggestion to the patient to bring a supportive caregiver, partner, or family member to appointments; provision of written information in addition to verbal discussion (Butcher et al. 2012; Finucane 2010)