Dichorionic diamniotic twin pregnancy after preimplantation genetic testing and single blastocyst transfer

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-06-13 DOI:10.1002/bdr2.2366

Qiuxiang Huang, Wei Yan, Lihua Mao, Caixia Wang, Juan Lin, Yun Liu, Zhihong Wang

{"title":"Dichorionic diamniotic twin pregnancy after preimplantation genetic testing and single blastocyst transfer","authors":"Qiuxiang Huang, Wei Yan, Lihua Mao, Caixia Wang, Juan Lin, Yun Liu, Zhihong Wang","doi":"10.1002/bdr2.2366","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>In addition to the potential for multiple pregnancies, natural conception occurring in preimplantation genetic testing (PGT) increases undesired genetic risk. Some studies showed that a dichorionic diamniotic twin pregnancy after a single blastocyst transfer could be caused by embryo splitting or concurrent spontaneous conception.</p>\n </section>\n \n <section>\n \n <h3> Case</h3>\n \n <p>We describe a patient undergoing PGT who had a dichorionic diamniotic twin pregnancy after single blastocyst transfer in a natural cycle. In this case, we recommended to determine genetic status of the twins by prenatal diagnosis. The results showed that karyotype, chromosome copy number variation, and parental <i>ACAT1</i> variation of the twins were all normal and similar. To investigate the origin of pregnancy, we used the genotype data of single-nucleotide polymorphisms typical of genome-wide association studies. Dizygotic twins were inferred by robust estimation of kinship coefficients, which confirmed the occurrence of a spontaneous conception.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>This case strengthens the importance of genetic counseling to inform couples with reproductive genetic risk, such as those who undergo PGT, that intercourse should be avoided, especially in natural transfer cycles. Moreover, prenatal diagnosis remains essential and is strongly recommended to avoid genetic risks.</p>\n </section>\n </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":1.6000,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Birth Defects Research","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/bdr2.2366","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DEVELOPMENTAL BIOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background

In addition to the potential for multiple pregnancies, natural conception occurring in preimplantation genetic testing (PGT) increases undesired genetic risk. Some studies showed that a dichorionic diamniotic twin pregnancy after a single blastocyst transfer could be caused by embryo splitting or concurrent spontaneous conception.

Case

We describe a patient undergoing PGT who had a dichorionic diamniotic twin pregnancy after single blastocyst transfer in a natural cycle. In this case, we recommended to determine genetic status of the twins by prenatal diagnosis. The results showed that karyotype, chromosome copy number variation, and parental ACAT1 variation of the twins were all normal and similar. To investigate the origin of pregnancy, we used the genotype data of single-nucleotide polymorphisms typical of genome-wide association studies. Dizygotic twins were inferred by robust estimation of kinship coefficients, which confirmed the occurrence of a spontaneous conception.

Conclusions

This case strengthens the importance of genetic counseling to inform couples with reproductive genetic risk, such as those who undergo PGT, that intercourse should be avoided, especially in natural transfer cycles. Moreover, prenatal diagnosis remains essential and is strongly recommended to avoid genetic risks.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

植入前基因检测和单囊胚移植后的二绒毛膜双胎妊娠。

背景：植入前基因检测（PGT）中发生的自然受孕除了可能导致多胎妊娠外，还会增加意外遗传风险。一些研究表明，单囊胚移植后的二绒毛膜双胎妊娠可能是由胚胎分裂或同时自然受孕引起的：我们描述了一名在自然周期中接受 PGT 的患者，在单囊胚移植后出现了二绒毛膜双胎妊娠。在这种情况下，我们建议通过产前诊断确定双胞胎的遗传状况。结果显示，双胞胎的核型、染色体拷贝数变异和父母 ACAT1 变异均正常且相似。为了研究妊娠起源，我们使用了全基因组关联研究中典型的单核苷酸多态性基因型数据。通过对亲缘关系系数的稳健估计，我们推断出了异卵双胞胎，这证实了自然受孕的发生：本病例加强了遗传咨询的重要性，告知有生殖遗传风险的夫妇，如接受 PGT 的夫妇，应避免性交，尤其是在自然受孕周期。此外，为避免遗传风险，产前诊断仍是必不可少的，并强烈建议进行产前诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.