Takashima T, Maeda H, Koyanagi T, Nishimura J, Nakano H
Department of Gynecology and Obstetrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Fetal Diagn Ther. 1992;7(3-4):186-9. doi: 10.1159/000263697.
A case of May-Hegglin anomaly, a rare autosomal dominant thrombocytopenia, is reported. This disorder is characterized by giant platelets, basophilic inclusion bodies within the cytoplasm of granulocytes and an occasional bleeding tendency. This bleeding tendency depends on the platelet count. The fetuses of such patients run the risk of intracranial hemorrhage in utero and during the early neonatal period following vaginal delivery. Prenatal diagnosis of this disorder has not yet been reported. We describe a case of this disorder, diagnosed in pregnancy, which, following prenatal diagnosis of mild thrombocytopenia in the fetus and confirmation by cordocentesis, could successfully undergo a vaginal delivery.
报告了一例May-Hegglin异常病例,这是一种罕见的常染色体显性血小板减少症。该疾病的特征是巨大血小板、粒细胞胞质内的嗜碱性包涵体以及偶尔的出血倾向。这种出血倾向取决于血小板计数。此类患者的胎儿在子宫内以及阴道分娩后的早期新生儿期有颅内出血的风险。尚未见该疾病产前诊断的报道。我们描述了一例在孕期诊断出的该疾病病例,在胎儿产前诊断为轻度血小板减少症并经脐带穿刺确诊后,成功进行了阴道分娩。