INUTERO FETAL MUSCLE BIOPSY FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR-DYSTROPHY

被引：36

作者：

EVANS, MI

GREB, A

KUNKEL, LM

SACKS, AJ

JOHNSON, MP

BOEHM, C

KAZAZIAN, HH

HOFFMAN, EP

机构：

[1] WAYNE STATE UNIV, HUTZEL HOSP, CTR FETAL DIAGNOSIS & THERAPY, DETROIT, MI 48202 USA

[2] WAYNE STATE UNIV, HUTZEL HOSP, DEPT OBSTET & GYNECOL, DETROIT, MI 48202 USA

[3] WAYNE STATE UNIV, HUTZEL HOSP, DEPT MOLEC BIOL, DETROIT, MI 48202 USA

[4] WAYNE STATE UNIV, HUTZEL HOSP, DEPT GENET, DETROIT, MI 48202 USA

[5] CHILDRENS HOSP MED CTR, DIV GENET, BOSTON, MA 02115 USA

[6] HARVARD UNIV, SCH MED, DEPT PEDIAT, BOSTON, MA 02115 USA

[7] JOHNS HOPKINS UNIV, CTR MED GENET, BALTIMORE, MD 21218 USA

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 1991年 / 165卷 / 03期

关键词：

DUCHENNE MUSCULAR DYSTROPHY; PRENATAL DIAGNOSIS; INUTERO MUSCLE BIOPSY;

D O I：

10.1016/0002-9378(91)90318-L

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Deoxyribonucleic acid techniques can be used to diagnose Duchenne muscular dystrophy prenatally in male fetuses that are at risk. Deoxyribonucleic acid-based prenatal diagnosis can be impossible when there is only one prior affected male and there is no identifiable deletion or alteration. We performed fetal muscle biopsy in utero in such a case and documented the presence of dystrophin, thereby confirming normally in a male fetus at risk. This first in utero experience adds fetal muscle biospy to the available procedures for fetal tissue diagnosis.

引用

页码：728 / 732

页数：5

共 11 条

[1] DYSTROPHIN DIAGNOSIS - COMPARISON OF DYSTROPHIN ABNORMALITIES BY IMMUNOFLUORESCENCE AND IMMUNOBLOT ANALYSES [J].