RESEARCH PAPER
Next generation sequencing for preimplantation genetic testing of blastocysts aneuploidies in women of different ages
 
More details
Hide details
1
Invicta Fertility and Reproductive Center, Gdansk, Warsaw, Wroclaw, Poland
2
Department of Obstetrics and Gynecological Nursing, Faculty of Health Sciences, Medical University of Gdansk, Poland
3
Department of Obstetrics and Gynaecology, Centre of Postgraduate Medical Education, Warsaw, Poland
4
Department of Gynecology and Oncological Gynecology, Medical University of Bialystok, Poland
5
Centre for Reproductive Medicine KRIOBANK, Bialystok, Poland
CORRESPONDING AUTHOR
Krzysztof Lukaszuk   

Invicta Fertility and Reproductive Center, Gdansk, Warsaw, Wroclaw, Poland
 
Ann Agric Environ Med. 2016;23(1):163–166
KEYWORDS
ABSTRACT
Most of the current preimplantation genetic screening of aneuploidies tests are based on the low quality and low density comparative genomic hybridization arrays. The results are based on fewer than 2,700 probes. Our main outcome was the association of aneuploidy rates and the women’s age. Between August–December 2013, 198 blastocysts from women (mean age 36.3+-4.6) undergoing in vitro fertilization underwent routine trophectoderm biopsy. NGS was performed on Ion Torrent PGM (Life Technologies). The results were analyzed in five age groups (<31, 31–35, 36–38, 39–40 and >40). 85 blastocysts were normal according to NGS results. The results in the investigated groups were (% of normal blastocyst in each group): <31 (41.9%), 31–35 (47.6%), 36–38 (47.8%), 39–40 (37.7%) and >40 (38.5%). Our study suggests that NGS PGD is applicable for routine preimplantation genetic testing. It allows also for easy customization of the procedure for each individual patient making personalized diagnostics a reality.
 
REFERENCES (17)
1.
Handyside AH. 24-chromosome copy number analysis: a comparison of available technologies. Fertil Steril. 2013; 100: 595–602.
 
2.
Ambartsumyan G, Clark AT. Aneuploidy and early human embryo development. Hum Mol Genet. 2008; 17: R10–R5.
 
3.
Rubio C, Rodrigo L, Mercader A, Mateu E, Buendia P, Pehlivan T, et al. Impact of chromosomal abnormalities on preimplantation embryo development. Prenat Diagn. 2007; 27: 748–56.
 
4.
Gianaroli L, Magli MC, Ferraretti AP, Fortini D, Grieco N. Pronuclear morphology and chromosomal abnormalities as scoring criteria for embryo selection. Fertil Steril. 2003; 80: 341–9.
 
5.
Machtinger R, Racowsky C. Morphological systems of human embryo assessment and clinical evidence. Reprod Biomed Online 2013; 26: 210–21.
 
6.
Treff NR, Forman EJ, Scott RT, Jr. Next-generation sequencing for preimplantation genetic diagnosis. Fertil Steril. 2013; 99: E17-E8.
 
7.
Martin J, Cervero A, Mir P, Conejero Martinez JA, Pellicer A, Simon C. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril. 2013; 99: 1054-U225.
 
8.
Verlinsky Y, Lerner S, Illkevitch N, Kuznetsov V, Kuznetsov I, Cieslak J, et al. Is there any predictive value of first polar body morphology for embryo genotype or developmental potential? Reprod Biomed Online 2003; 7: 336–41.
 
9.
Alfarawati S, Fragouli E, Colls P, Stevens J, Gutierrez-Mateo C, Schoolcraft WB, et al. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril. 2011; 95: 520–4.
 
10.
Montag M, Toth B, Strowitzki T. Polar body diagnosis. Numerical and structural analysis of chromosomal aberrations. Medizinische Genet. 2011; 23: 479–82.
 
11.
Yang Z, Liu J, Collins GS, Salem SA, Liu X, Lyle SS, et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet. 2012; 5: 24.
 
12.
Lukaszuk K, Liss J, Lukaszuk M, Maj B. Optimization of estradiol supplementation during the luteal phase improves the pregnancy rate in women undergoing in vitro fertilization-embryo transfer cycles. Fertil Steril. 2005; 83: 1372–6.
 
13.
Lukaszuk K, Kunicki M, Liss J, Lukaszuk M, Jakiel G. Use of ovarian reserve parameters for predicting live births in women undergoing in vitro fertilization. Eur J Obstet Gynecol Reprod Biol. 2013; 168: 173–7.
 
14.
Lukaszuk K, Kunicki M, Liss J, Bednarowska A, Jakiel G. Probability of live birth in women with extremely low anti-Mullerian hormone concentrations. Reprod Biomed Online 2014; 28: 64–9.
 
15.
Kuliev A, Cieslak J, Verlinsky Y. Frequency and distribution of chromosome abnormalities in human oocytes. Cytogenet Genome Res. 2005; 111: 193–8.
 
16.
Jozwiak A, Bijok J, Massalska D, Pawlowska B, Ilnicka A, Bogdanowicz J, et al. Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies. Ginekol Pol. 2013; 84: 682–90.
 
17.
Lukaszuk K, Liss J, Kunicki M, Jakiel G, Wasniewski T, Woclawek-Potocka I, Pastuszek E. Anti-Müllerian hormone (AMH) is a strong predictor of live birth in women undergoing assisted reproductive technology. Reproductive Biology. 2014; 14: 176–181.
 
eISSN:1898-2263
ISSN:1232-1966