In Utero Diagnosis and Management of a Fetus With Homozygous α-Thalassemia in the Second Trimester: A Case Report and Literature Review

被引：17

作者：

Dwinnell, Shannon J. ^{[1
,2
,3
]}

Coad, Sarah ^{[2
]}

Butler, Blair ^{[1
,2
,3
]}

Albersheim, Susan ^{[1
,2
,4
]}

Wadsworth, Louis D. ^{[1
,2
,6
]}

Wu, John K. ^{[1
,2
,5
]}

Delisle, Marie-France ^{[1
,2
,3
]}

机构：

[1] Childrens & Womens Hosp British Columbia, Vancouver, BC, Canada

[2] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada

[3] Dept Obstet & Gynecol, Div Maternal Fetal Med, Vancouver, BC, Canada

[4] Dept Pediat, Div Neonatol, Quebec City, PQ, Canada

[5] Dept Pediat, Div Hematol Oncol, Quebec City, PQ, Canada

[6] Dept Pathol & Lab Med, Div Hematopathol, Ottawa, ON, Canada

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2011年 / 33卷 / 08期

关键词：

homozygous alpha-thalassemia; hemoglobin Bart's; prenatal diagnosis; fetal therapy; intrauterine exchange transfusion; PEAK SYSTOLIC VELOCITY; MIDDLE CEREBRAL-ARTERY;

D O I：

10.1097/MPH.0b013e31821b368c

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Alpha thalassemia with the absence of 4 alpha-globin genes leads to fetal hydrops and fetal death from anemia. Historically considered a lethal condition, optimal in utero management of homozygous alpha-thalassemia is unclear. A fetus of Filipino descent at 26 weeks gestation presented with ultrasound evidence of anemia. Cordocentesis confirmed anemia and homozygous alpha-thalassemia (--(SEA)/--(SEA)). Intrauterine transfusion corrected anemia but fetal growth restriction and oligohydramnios persisted. Intrauterine exchange transfusion improved hemoglobin parameters, fetal growth, and oligohydramnios. The late preterm infant was delivered with classic limb reduction defects. Hemoglobin Bart's is nonfunctional for oxygen transport, and intrauterine exchange transfusion may be effective first-line therapy and further investigation is warranted.

引用

页码：E358 / E360

页数：3

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