Chapter 21 - Reproduction, prenatal screening, and diagnosis in 22q11.2 deletion syndrome

Abstract

Despite the fact that the chromosome 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome, very little is known about the impact on reproduction in affected individuals. Successful reproduction has been reported in both men and women with 22q11.2DS. Genetic counseling is recommended in all cases to discuss the risk for recurrence in offspring. In addition, women of reproductive age affected with 22q11.2DS should be offered preconception counseling to optimize maternal health status prior to pregnancy and minimize maternal risks associated with common morbidities such as congenital heart disease, hypocalcemia, thrombocytopenia, and psychiatric disorders that can impact pregnancy outcome. Multiple testing and screening options are available for the prenatal diagnosis of 22q11.2DS, although invasive testing using microarray is the most informative method. The fetal phenotype of 22q11.2DS is just as variable as when the diagnosis is made for a neonate or young adult, making screening through noninvasive methods such as prenatal ultrasound challenging. Given that most individuals survive well into adulthood, the reproductive and pregnancy implications of 22q11.2DS require future study and the development of clinical guidelines.