title: [First in the world application of next generation sequencing in preimplantation genetic diagnostics in clinical practice - a case report].
abstract: Preimplantation genetic diagnosis (PGD) is a well established method for detecting genetic abnormalities during the course of infertility treatment, resulting in thousands of healthy newborns delivered worldwide. PGD with next generation sequencing (NGS) provides new possibilities for diagnosis and new parameters for evaluation. The use of next-generation DNA sequencing technique has lead to great progress in the human genome analysis. The aim of this study was molecular analysis using next generation sequencing technique of embryos from a couple suffering from recurrent pregnancy losses. As a result of in vitro fertilization procedure, seven embryos were created. Seven blastomeres, one from each embryo, were analyzed. Transfer of two blastocysts in a fresh cycle resulted in the singleton pregnancy. Healthy baby girl was delivered via caesarean section after 28 weeks of gestation (weight: 1250g, Apgar score: 8/9). The reason for the premature labor was likely caused by mother's pneumonia. This is the first case of clinical use of the NGS in PGD in fresh cycle after blastomere biopsy.
authors.affiliation: INVICTA Klinika Leczenia Niepłodności, Gdańsk; Zakład Pielęgniarstwa Położniczo-Ginekologicznego, Gdański Uniwersytet Medyczny, Gdańsk; INVICTA Klinika Leczenia Niepłodności, Warszawa.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Łukaszuk
authors.affiliation: Centrum Leczenia Niepłodności Małżeńskiej KRIOBANK, Białystok; Klinika Endokrynologii Ginekologicznej, Uniwersytet Medyczny w Białymstoku, Białystok.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kuczyńska
authors.affiliation: INVICTA Klinika Leczenia Niepłodności, Gdańsk.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Pukszta
authors.affiliation: Klinika Endokrynologii Ginekologicznej, Uniwersytet Medyczny w Białymstoku, Białystok; Klinika Perinatologii, Uniwersytet Medyczny w Białymstoku, Białystok.
authors.forename: Paweł
authors.initials: P
authors.lastname: Kuć
authors.affiliation: Klinika Ginekologii, Uniwersytet Medyczny w Białymstoku, Bialystok; Centrum Leczenia Niepłodności Małżeńskiej KRIOBANK, Białystok.
authors.forename: Waldemar
authors.initials: W
authors.lastname: Kuczyński
authors.affiliation: INVICTA Klinika Leczenia Niepłodności, Gdańsk.
authors.forename: Jakub
authors.initials: J
authors.lastname: Łukaszuk
authors.affiliation: INVICTA Klinika Leczenia Niepłodności, Gdańsk.
authors.forename: Joanna
authors.initials: J
authors.lastname: Liss
authors.affiliation: Zakład Immunologii i Patologii Rozrodu, Instytut Rozrodu Zwierząt i Badań Żywności Polskiej Akademii Nauk, Olsztyn.
authors.forename: Izabela
authors.initials: I
authors.lastname: Wocławek-Potocka
mesh_terms: D000328:Adult; D001757:Blastomeres / Q000166:cytology*; D025063:Chromosome Disorders / Q000175:diagnosis*; D004624:Embryo Transfer; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D011296:Prenatal Diagnosis; D016896:Treatment Outcome