Chisholm C A, Bray M J, Karns L B
Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
Am J Med Genet. 2001 Aug 1;102(2):136-8. doi: 10.1002/ajmg.1437.
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.
布卢姆综合征是一种罕见的常染色体隐性疾病,其特征是染色体脆性增加和体细胞突变率升高。临床表现包括身材矮小、特征性皮肤病变以及恶性肿瘤发病率过高。生育能力通常下降。一名患有布卢姆综合征的19岁白人女性在妊娠32周时成功接受了早产治疗,并最终在妊娠35周时产下一名健康男婴。关于布卢姆综合征女性怀孕的报道很少。尽管生育能力下降,但仍可能受孕,患有布卢姆综合征的女性应接受适当的生殖咨询,以防止意外怀孕并加强对早产的监测。