Women with rare diseases experience high rates of complications during pregnancy, but disease stability before conception is linked to fewer disease-related complications, according to a study recently published in Acta Obstetricia et Gynecologica Scandinavica.
The retrospective study analyzed pregnancies in 388 women treated at a tertiary medical center in Germany between 2018 and 2022. Participants had a range of conditions, most commonly neurologic, cardiovascular, autoimmune and hemostaseologic rare diseases. Nearly 12% had more than one rare disease, and 5.7% received their rare disease diagnosis for the first time during pregnancy.
Disease-related complications occurred in 23.2% of women, and pregnancy-related complications occurred in 25.1% of live births. The cesarean section rate was 50.6%, nearly double Germany’s national average of 31%. Preterm birth occurred in 15.3% of cases, and one in five newborns required admission to the neonatal intensive care unitNeonatal intensive care unit A specialized hospital unit for newborns who need close monitoring and treatments such as platelet transfusions..
The study defined preconception stability as no disease-related complications in the six months before pregnancy. Among women who met that threshold, complications arose in 15.5% of cases, compared with 45.7% among those who did not.
The number of pregnancies in women with rare diseases is on the rise, and managing these pregnancies often requires individualized planning, since many conditions lack pregnancy-specific evidence.
These shared challenges can make decisions about conception, childbirth and postpartum care more complex, including for people affected by fetal and neonatal alloimmune thrombocytopenia (FNAIT). Despite this, only 5.9% of women in the study had received preconception counseling.
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“Preconception stability is a key factor for an uncomplicated course of pregnancy and birth,” researchers concluded. They also called for further prospective studies to evaluate structured care approaches for pregnant women with rare diseases.
The authors noted, however, that as a single-center retrospective study, the findings may reflect a higher-risk patient group and may not apply to all pregnant women with rare diseases.
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