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Am J Med Genet. 2001 Aug 1;102(2):136-8.

Successful pregnancy in a woman with Bloom syndrome.

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Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, Virginia, USA.


Bloom syndrome is a rare autosomal recessive disorder notable for increased chromosome fragility and an increased rate of somatic mutation. The clinical manifestations include small stature, a characteristic dermatologic lesion, and an excess incidence of malignancy. Fertility is generally reduced. A 19-year-old white woman with Bloom syndrome was successfully treated for preterm labor at 32 weeks' gestation, and ultimately delivered a healthy male infant at 35 weeks' gestation. Reports of pregnancy in women with Bloom syndrome are few. Despite reduced fertility, conception can occur, and women with Bloom syndrome should receive appropriate reproductive counseling to prevent unintended pregnancies and increased surveillance for preterm birth.

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