Introduction:
Down syndrome (DS), is the most common non-sex chromosome duplication disorder in living humans, with a prevalence of 1 in 800 births worldwide 1,2. In 95% of the cases, DS is caused by the existence of an extra copy of chromosome 21 resulting in trisomy3. Less frequently, translocation and mosaicism can lead to DS 2,3.
Individuals with DS have typical physical characteristics including short stature, up slanted palpebral fissures, flat nasal bridge, microcephaly, nuchal folds. hypotonia, and broad, short hands1,3. DS is associated with many medical conditions including musculoskeletal disorders, congenital heart defects, seen in up to 50% of those affected, gastrointestinal malformations such as Hirschsprung’s disease, respiratory disease, hematologic malignancies, as well as hearing and visual problems 1,3,4. Autoimmune diseases including Hashimoto’s disease, celiac disease and Type I diabetes mellitus are common in patients with DS1. Individuals with DS often suffer from obesity that occurs in 25% of children and 50% of adults 1. Down syndrome leads to a spectrum of intellectual disability and neurodevelopmental problems including limited social awareness, decreased motor coordination, and an increased incidence of autism spectrum disorder 1. However, five percent of people with DS have an IQ close to normal threshold 5.
People with Down syndrome rarely reproduce, although the information on exact statistics is limited. Women with DS are fertile and a number of cases of pregnancy in DS mothers have been previously reported6–8. However, the literature suggests that women with DS are more likely to have early menopause and a decrease in the levels of anti-Mullerian hormone. It is thought that early menopause is secondary to reduced ovarian reserve 5.
To our knowledge, there are no studies in the literature to address pregnancy, delivery, or neonatal outcomes among women living with DS. Hence, we utilized a population database to address the paucity of data around pregnancy outcomes in women with DS.