Koren A, Cohen H, Shneyour I, Shalev E
Paediatric Department B, Central Emek Hospital, Afula, Israel.
Br J Haematol. 1994 Sep;88(1):207-8. doi: 10.1111/j.1365-2141.1994.tb05001.x.
Congenital dysgranulopoietic neutropenia is a severe life-threatening disease characterized by specific dysmorphic granulocytes. Prenatal diagnosis of congenital neutropenia was reported first in 1983. In 1989 we reported a family with congenital dysgranulopoietic neutropenia in two siblings (one male and one female); in 1992 the mother became pregnant and prenatal diagnosis was performed by cordocentesis. The results we obtained from the fetus at risk enabled us to suggest that it was not affected, and we advised the parents that the pregnancy could continue: a healthy female was born. The neutrophil count at 2 and 4 months was normal.
先天性粒细胞生成异常性中性粒细胞减少症是一种严重的、危及生命的疾病，其特征为特定的畸形粒细胞。先天性中性粒细胞减少症的产前诊断于1983年首次报道。1989年，我们报道了一个家庭，其两名兄弟姐妹（一男一女）患有先天性粒细胞生成异常性中性粒细胞减少症；1992年，母亲怀孕，通过脐带穿刺术进行了产前诊断。我们从处于风险中的胎儿获得的结果使我们认为其未受影响，我们建议父母该妊娠可以继续：一名健康的女婴出生。2个月和4个月时的中性粒细胞计数正常。
