爱沙尼亚塔尔图大学Andres Salumets、比利时鲁汶大学Joris Robert Vermeesch、Thierry Voet与荷兰马斯特里赫特大学Masoud Zamani Esteki等研究人员合作发现，体外受精不会增加胎儿和胎盘谱系从头复制数量改变的发生频率。2019年11月4日，《自然—医学》杂志在线发表了该研究成果。
研究人员表示，尽管染色体不稳定性（CIN）是体外受精（IVF）后卵裂期胚胎发生中的常见现象，但其在自然受孕人类胚胎中的发生率尚不清楚。CIN导致镶嵌胚胎包含遗传正常细胞和异常细胞的组合，并且与体内设想的着床前胚胎相比，在体外产生的着床前胚胎中明显更高。即使具有CIN来源的复杂非整倍性的胚胎可能在胚胎发生的卵裂和胚泡阶段之间停滞，但含有异常细胞的大量胚胎仍可以通过这种强烈的选择障碍。但是，对于IVF治疗后的产前发育期间和出生时，CIN的患病率和程度都没有被很好地了解。
研究人员剖析了IVF和自然受孕儿童产后胎儿和胎盘组织的基因组景观，以研究IVF相关CIN可能引起的大遗传畸变的发生率和持续性。研究人员证明，CIN在产前发育的后期并没有被保留，并且从头数值畸变或大的结构DNA不平衡发生在IVF和自然怀胎的新生儿中的发生率相似。这些研究结果证实，人体外受精治疗对胎儿和胎盘谱系的染色体组成没有有害影响。
附：英文原文
Title: In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages
Author: Masoud Zamani Esteki, Triin Viltrop, Olga Tuiko, Airi Tiirats, Mariann Koel, Margit Nukas, Olga ilina, Katre Teearu, Heidi Marjonen, Hanna Kahila, Jeroen Meekels, Viveca Sderstrm-Anttila, Anne-Maria Suikkari, Aila Tiitinen, Reedik Mgi, Sulev Kks, Nina Kaminen-Ahola, Ants Kurg, Thierry Voet, Joris Robert Vermeesch, Andres Salumets
Issue&Volume: 2019-11-04
Abstract: Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage embryogenesis following in vitro fertilization (IVF)1,2,3, its rate in naturally conceived human embryos is unknown. CIN leads to mosaic embryos that contain a combination of genetically normal and abnormal cells, and is significantly higher in in vitro-produced preimplantation embryos as compared to in vivo-conceived preimplantation embryos4. Even though embryos with CIN-derived complex aneuploidies may arrest between the cleavage and blastocyst stages of embryogenesis5,6, a high number of embryos containing abnormal cells can pass this strong selection barrier7,8. However, neither the prevalence nor extent of CIN during prenatal development and at birth, following IVF treatment, is well understood. Here we profiled the genomic landscape of fetal and placental tissues postpartum from both IVF and naturally conceived children, to investigate the prevalence and persistence of large genetic aberrations that probably arose from IVF-related CIN. We demonstrate that CIN is not preserved at later stages of prenatal development, and that de novo numerical aberrations or large structural DNA imbalances occur at similar rates in IVF and naturally conceived live-born neonates. Our findings affirm that human IVF treatment has no detrimental effect on the chromosomal constitution of fetal and placental lineages.
DOI: 10.1038/s41591-019-0620-2
Source: https://www.nature.com/articles/s41591-019-0620-2
Nature Medicine：《自然—医学》，创刊于1995年。隶属于施普林格·自然出版集团，最新IF：87.241
官方网址：https://www.nature.com/nm/
投稿链接：https://mts-nmed.nature.com/cgi-bin/main.plex
本期文章：《自然—医学》：Online/在线发表
