Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5

被引:62
作者
Baart, EB
Van Opstal, D
Los, FJ
Fauser, BCJM
Martini, E
机构
[1] Erasmus Med Ctr, Dept Obstet & Gynaecol, Div Reprod Med, NL-3015 GD Rotterdam, Netherlands
[2] Erasmus Med Ctr, Dept Clin Genet, NL-3015 GD Rotterdam, Netherlands
关键词
aneuploidy; cryopreservation; embryo biopsy; FISH; chromosomal mosaicism;
D O I
10.1093/humrep/deh094
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Background: Chromosomal mosaicism in human embryos may give rise to false positive or false negative results in preimplantation genetic diagnosis for aneuploidy screening (PGD-AS). Therefore, we have investigated whether the results obtained from a 2-cell biopsy of frozen-thawed embryos and fluorescence in situ hybridization (FISH) analysis are representative for the chromosome constitution of the remaining embryo on day 5. Methods: Cryopreserved day 3 embryos were thawed and from surviving embryos two blastomeres were biopsied. FISH analysis was performed for chromosomes 1, 7, 13, 15, 16, 18, 21, 22, X and Y. After biopsy, the embryos were cultured until day 5 and further analysed using the same probe panels. Results: In all, 17 embryos were available with a diagnosis based on two blastomeres on day 3 and confirmatory studies on day 5. In 10 of these 17 cases the initial diagnosis could be confirmed. However, in only six cases cytogenetic results were concordant. Besides the 10 cases with a 'correct' diagnosis, there were six false positive results and one false negative, all involving mosaicism. Conclusions: Investigating the chromosomal constitution of two blastomere nuclei offers a good opportunity to study the incidence of chromosomal mosaicism in early embryo development. The confirmation rate of the results obtained on day 3 depends on the interpretation and is higher when considered from a clinical than from a cytogenetic point of view.
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收藏
页码:685 / 693
页数:9
相关论文
共 53 条
[1]   The relationship between chromosomal abnormality in the human preimplantation embryo and development in vitro [J].
Almeida, PA ;
Bolton, VN .
REPRODUCTION FERTILITY AND DEVELOPMENT, 1996, 8 (02) :235-241
[2]   POSTFERTILIZATION POLYPLOIDY IN HUMAN PREIMPLANTATION EMBRYOS FERTILIZED INVITRO [J].
ANGELL, RR ;
SUMNER, AT ;
WEST, JD ;
THATCHER, SS ;
GLASIER, AF ;
BAIRD, DT .
HUMAN REPRODUCTION, 1987, 2 (08) :721-727
[3]   Preimplantation genetic diagnosis of aneuploidy:: Were we looking at the wrong chromosomes? [J].
Bahçe, M ;
Cohen, J ;
Munné, S .
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 1999, 16 (04) :176-181
[4]   ASSESSMENT OF POLYPLOIDY IN HUMAN MORULAE AND BLASTOCYSTS USING COCULTURE AND FLUORESCENT INSITU HYBRIDIZATION [J].
BENKHALIFA, M ;
JANNY, L ;
VYE, P ;
MALET, P ;
BOUCHER, D ;
MENEZO, Y .
HUMAN REPRODUCTION, 1993, 8 (06) :895-902
[5]   Chromosomal mosaicism throughout human preimplantation development in vitro:: incidence, type, and relevance to embryo outcome [J].
Bielanska, M ;
Tan, SL ;
Ao, A .
HUMAN REPRODUCTION, 2002, 17 (02) :413-419
[6]   IDENTIFICATION OF 2 DISTINCT SUBFAMILIES OF ALPHA-SATELLITE DNA THAT ARE HIGHLY SPECIFIC FOR HUMAN CHROMOSOME-15 [J].
CHOO, KH ;
EARLE, E ;
VISSEL, B ;
FILBY, RG .
GENOMICS, 1990, 7 (02) :143-151
[7]   CLONING OF HUMAN SATELLITE-III DNA - DIFFERENT COMPONENTS ARE ON DIFFERENT CHROMOSOMES [J].
COOKE, HJ ;
HINDLEY, J .
NUCLEIC ACIDS RESEARCH, 1979, 6 (10) :3177-3197
[8]   The added value of embryo cryopreservation to cumulative ongoing pregnancy rates per IVF treatment: Is cryopreservation worth the effort? [J].
de Jong, D ;
Eijkemans, MJC ;
Beckers, NGM ;
Pruijsten, RV ;
Fauser, BCJM ;
Macklon, NS .
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2002, 19 (12) :561-568
[9]  
Delhanty JDA, 2001, ANN HUM GENET, V65, P331, DOI 10.1017/S0003480001008739
[10]   An improved fixation technique for fluorescence in situ hybridization for preimplantation genetic diagnosis [J].
Dozortsev, DI ;
McGinnis, KT .
FERTILITY AND STERILITY, 2001, 76 (01) :186-188