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Updated: Aug 8, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy
J R Wax1, S Rosengren, E Spector
1Department of Obstetrics and Gynecology, Hartford Hospital, Connecticut, USA.
Abstract:
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet storage pool deficiency, and ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, colitis, and hemorrhagic diathesis can impact obstetric management. An 18-year-old primigravida with OCA was diagnosed during pregnancy with Hermansky-Pudlak syndrome by DNA analysis. Uneventful vaginal delivery occurred at term following prophylactic platelet transfusion. Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management.
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