Objective of the Paper: To demonstrate the efficiency of pre-implantation genetic testing (PGT) with Illumina high throughput sequencing in patients with aggravated obstetric and gynaecological history (as exemplified by case reports).
Key Points. The study of the karyotype in patients with reproduction disorders function (RFD) is a golden standard and a mandatory step in examination of couples who plan for pregnancy. The most advanced method for genetic testing of embryos allowing simultaneous identification of aneuploidies and unbalanced chromosomal pathologies is the method of high throughput sequencing (Next Generation Sequencing, NGS).
In this article, we describe two cases of PGT with NGS in couples with RFD. When the couples were enrolled into the assisted reproductive technology program, one couple had normal karyotype; and in the other couple, the woman had reciprocal translation between 2 and 7 chromosomes: 46,XX,t(2;7)(p21;q36). However, examination of the embryos in these couples demonstrated that initially karyotypes of the women had been incorrectly identified.
Conclusion. In RFD, awareness of the break points in chromosome rearrangements is potentially important, because they can greatly impact selection of the method for subsequent genetical testing of the embryo. Illumina high throughput sequencing can be successfully used in patients with karyotype alternations, even if the parent karyotype is identified incorrectly or is unknown.
Contributions: Glinkina, Zh.I. — genetic examination and data interpretation (pre-implantation genetic testing), patient ART counselling with pre-implantation genetic testing, text of the article, approval of the manuscript for publication; Kulakova, E.V. and Kuzmicheva, V.S. — ART program implementation; Vityazeva, I.I. and Pomerantseva, E.I. — ART program implementation, text of the article; Oparina, N.V. — cytogenic assay (blood lymphocytes).
Conflict of interest: The authors declare that they do not have any conflict of interests.
Zh.I. Glinkina (Corresponding author) — Hi-Tech Genetics; 111/1 Leninskiy Prosp., Moscow, Russian Federation 119532. E-mail: email@example.com
E.V. Kulakova — V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynecology and Perinatal Medicine of the Ministry of Health of the Russian Federation; 4 Academician Oparin Str., Moscow, Russian Federation 117997. E-mail: firstname.lastname@example.org
I.I. Vityazeva — National Medical Research Centre of Endocrinology of the Ministry of Health of the Russian Federation; 11 Dmitry Ulyanov Str., Moscow, Russian Federation 117036. E-mail: email@example.com
E.I. Pomerantseva — Novaya Zhizn Medical Centre; 7 Sovetskoy Armii Str., Moscow, Russian Federation 127018. E-mail: firstname.lastname@example.org
N.V. Oparina — M.F. Vladimirsky Moscow Regional Clinical Research Institute (a Government-funded Healthcare Institution); 61/2 Shchepkin St., Moscow, Russian Federation 129110. E-mail: email@example.com
V.S. Kuzmicheva — Moscow Regional Scientific Centre of Obstetrics and Gynaecology, Moscow, Russian Federation 101000. E-mail: firstname.lastname@example.org