FISH analysis of 15 chromosomes in human day 4 and 5 preimplantation embryos: the added value of extended aneuploidy detection

被引:28
作者
Baart, E. B.
van den Berg, I.
Martini, E.
Eussen, H. J.
Fauser, B. C. J. M.
Van Opstal, D.
机构
[1] Univ Med Ctr, Dept Reprod Med & Gynaecol, NL-3584 CX Utrecht, Netherlands
[2] Univ Med Ctr, Erasmus MC, Dept Obstet & Gynaecol, Div Reprod Med, NL-3015 GD Rotterdam, Netherlands
[3] Univ Med Ctr, Erasmus MC, Dept Clin Genet, NL-3015 GD Rotterdam, Netherlands
关键词
aneuploidy; chromosomal mosaicism; human preimplantation embryos; preimplantation genetic screening; cryopreservation;
D O I
10.1002/pd.1623
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Objective Screening for an increased number of chromosomes may improve the detection of abnormal embryos and thus contribute to the capability of preimplantation genetic screening (PGS) to detect the embryo(s) for transfer in IVF with the best chance for a healthy child. Good-quality day 4 and 5 embryos were analyzed after cryopreservation for the nine chromosomes mostly recommended for screening (13, 14, 15, 16, 18, 21, 22, X and Y), next to six additional chromosomes which are less well studied in this context (1, 2, 7, 6, 10 and 17). Method The copy numbers of 15 chromosomes were investigated by fluorescence in situ hybridization (FISH) in three consecutive rounds. The proportion of aneuploid and mosaic embryos was determined and compared in retrospect to results in case only the recommended probe set had been analyzed. Results A total of 52 embryos from 29 infertile women were analyzed. Screening the embryos for six additional chromosomes increased the proportion of abnormal embryos from 67 to 81% (P = 0.03), owing to an increase in mosaic embryos. Conclusion All but one of the meiotic aneuploidies found in this study would have been detected by the probe set most frequently used in PIGS clinics. However, aneuploid cell lines originating from mitotic errors could be detected for almost all chromosomes, so screening of six additional chromosomes mainly increased the proportion of mosaic embryos. The added value of screening for six additional chromosomes in PGS for clinical practice will remain undetermined as long as the fate of mosaic embryos after transfer is unclear. Copyright (C) 2007 John Wiley & Sons, Ltd.
引用
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页码:55 / 63
页数:9
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