Pregnancies in women with rare diseases: Selected maternal and perinatal outcomes

Rare diseases (RD) are characterized by chronicity and may be associated with reduced life expectancy and quality of life. Case series and reports regarding pregnancies in individuals with specific RD exist, but there is no data on the outcome of pregnancies in the overall group.

A retrospective analysis was conducted of all pregnancies in women with RD who were managed at our center between January 2018 and July 2022. Maternal, fetal, and obstetric parameters were recorded.

During the study period, 388 pregnant women with 434 RD were managed. Of these, 11.9% had more than one RD. The breakdown of conditions was as follows: 50.7% acquired diseases, 21% congenital diseases excluding malformations, 17.5% malformations, and 10.8% tumors. Disease-specific complications occurred in 23.2% of women, and pregnancy-specific complications in 25.1% of live births. Women with preconception stability experienced significantly fewer complications. The cesarean section rate was 50.6%. Preterm birth occurred in 15.3% of cases, and 20.4% of newborns required admission to the neonatal intensive care unit.

Women with RD experience a high rate of disease-specific and pregnancy complications. Preconception stability is a key factor for an uncomplicated course of pregnancy and birth.