PGDA NGS 360™ – PGT for aneuploidy screening using NGS – study case

Examples of patient from ARTVIMED Centre of Reproductive Medicine in Krakow, Poland. The biopsy sample of the embryos were examined in INVICTA Genetic Laboratory using PGT-A.

Bartosz Chrostowski, MD, PhD

Jurij Koseniuk, MSc, PhD

ARTVIMED Reproductive Medicine Centre in Cracow

Female patient aged 29, BMI 28, medical history indicating infertility 2.5 years (in 2014). Additional tests confirmed previously right-side tubal occlusion ((HyCoSy examination) and age-limited ovarian reserve – AMH 1.2 ng/mL. Semen analysis demonstrated sperm concentration 58.8 million/mL, progressive motility 60% and 2% sperm cells with normal morphology (based on strict criteria). The couple qualified to IVF program with antagonist protocol. Female patient stimulated for 11 days with 150 IU uFSH + 75 hMG, from Day 5 of stimulation she received cetrorelix 0.25 mg/d. Estradiol level on the day of hCG administration: 2137 pg/mL. 16 follicles were punctured, 13 cumuli oophori were obtained, of which 9 MII oocytes, 3 GV oocytes and 1 degenerated oocyte. 9 MII oocytes were subjected to IVF-ICSI (2014, before the Infertility Treatment Act entered into force). 7 normal, 2 haploid fertilizations were obtained. The embryos were then cultured to Day 5. 2 embryos in blastocyst stage, 4AA and 4AA, were transferred.

4 embryos in blastocyst stage (4AA, 4AA, 4BC and 4CC) were vitrified. A dichorionic twin pregnancy was obtained. During the ultrasound prenatal imaging at Week 12 of pregnancy, death of one fetus and the features suggesting aneuploidy in the second fetus were observed (according to the patient, abnormally high nuchal translucency; the examination was carried out in the U.S.) The death of the second fetus occurred before the commencement of invasive diagnostic test (before the date of amniocentesis). Given the unfavorable course of pregnancy, the patients asked us to perform preimplantation diagnosis of the frozen embryos. Consequently, the embryos were thawed in order to collect a fragment of trophectoderm for genetic testing. 4BC and 4CC class embryos degenerated after thawing and the material was collected from two embryos (4AA and 4AA). The embryos were re-vitrified. The genetic testing was performed using PGD NGS technique at Invicta laboratory. The test results confirmed euploidy in one embryo.