RAPID KARYOTYPING IN PRENATAL-DIAGNOSIS - A COMPARATIVE-STUDY OF THE PIPETTE METHOD AND THE IN-SITU TECHNIQUE FOR CHROMOSOME HARVESTING

被引:4
|
作者
CLAUSSEN, U
ULMER, R
BEINDER, E
VOIGT, HJ
机构
[1] UNIV ERLANGEN NURNBERG,INST HUMAN GENET,W-8520 ERLANGEN,GERMANY
[2] UNIV ERLANGEN NURNBERG,DEPT OBSTET & GYNECOL,W-8520 ERLANGEN,GERMANY
关键词
PRENATAL DIAGNOSIS; COLONY METHOD; PIPETTE METHOD; RAPID KARYOTYPING; CHROMOSOME ABERRATIONS;
D O I
10.1002/pd.1970131203
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Rapid karyotyping in the second and third trimesters has important implications for the management of pregnancies at risk. From September 1985 to March 1992, 735 amniotic fluid samples sent to our laboratory for rapid karyotyping from 64 different diagnostic centres of the Federal Republic of Germany were included in a comparative study on harvesting for chromosome analysis using the 'pipette method' or the 'in situ' technique. The average time between preparation of the amniotic fluid and verbal notification of the analysed karyotype was 5.41 days. The 'pipette method' needed on average 4.65 days, and the 'in situ' technique 5.97 days. In comparison with other more invasive techniques available for rapid karyotyping such as cordocentesis and placental biopsy, amniocentesis and subsequent chromosome harvesting using the 'pipette method' and/or the 'in situ' technique proved very useful and efficient. The overall incidence of chromosome aberrations was 15.3 per cent. The high rate of structural chromosome aberrations and uncommon aneuploidies found in our investigation (12 per cent) indicates that for rapid karyotyping in the second and third trimesters, conventional cytogenetic techniques cannot be replaced by faster techniques based on fluorescent in situ hybridization on interphase cells in the near future.
引用
收藏
页码:1085 / 1093
页数:9
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