目的:研究和比较单基因条件(PGT-M)和双原核(2PN)胚胎的植入前遗传学检测结果和周期结局。
方法:2018年1月至2022年12月的回顾性队列研究,包括IVF-PGT-M周期。
方法:共244例接受351个IVF-PGT-M周期的患者。
方法:单基因疾病分子检测的胚胎活检。
方法:IVF-PGT-M周期中1PN和2PN胚胎移植后的分子诊断结果和临床结果。
结果:与2PN来源的胚胎相比,1PN来源的胚胎发育潜力明显较低,接受活检的胚胎率较低;1PN来源的胚胎显示出明显较低的囊胚数量(24%对37.9%P<0.01)和高质量的囊胚(22.3%对48.1%,P<0.01)与2PN来源的胚胎比拟。与2PN衍生的胚胎相比,1PN中成功完成且未受影响的PGT-M结果较低(47.1%对65.5%和18.7%对31.6%,分别,两者P<0.01),异常分子结果明显较高(39.6%对22.7%,P<0.01)。24个1PN来源的胚胎移植,没有受影响的遗传性疾病,导致5例临床妊娠(20.8%)和4例活产(16.7%)。
结论:在由1PN产生的胚胎较少的限度内,产生适合移植的未受影响的胚胎,接受PGT-M的1PN胚胎的临床妊娠率和活产率令人放心.我们,因此,建议将PGT-M应用于源自1PN胚胎的胚胎,以提高累积临床妊娠率和活产率。
OBJECTIVE: To study and compare the preimplantation genetic testing for monogenic disorders (PGT-M) results, and to evaluate the treatment cycle outcomes of embryos derived from a single pronucleus (1PN) vs. two pronuclei (2PN).
METHODS: A retrospective cohort study from January 2018 to December 2022 involving in vitro fertilization (IVF)-PGT-M treatment cycles.
METHODS: Single, academically affiliated fertility center.
METHODS: A total of 244 patients underwent 351 IVF-PGT-M treatment cycles.
METHODS: Embryo biopsy with molecular testing for a monogenic disorder.
METHODS: The molecular diagnosis results and clinical outcomes after the transfer of embryos derived from 1PN and 2PN in IVF-PGT-M treatment cycles.
RESULTS: Embryos derived from 1PN have a significantly low developmental potential with a lower rate of embryos that underwent biopsy compared with 2PN-derived embryos; 1PN-derived embryos demonstrated a significantly lower number of blastocysts (24% vs. 37.9%) and top-quality blastocysts (22.3% vs. 48.1%) compared with 2PN-derived embryos. Lower successfully completed and unaffected PGT-M results were achieved in 1PN compared with 2PN-derived embryos (47.1% vs. 65.5% and 18.7% vs. 31.6%, respectively), with significantly higher abnormal molecular results (39.6% vs. 22.7%). The embryo transfer of 24 1PN-derived embryos with no affected genetic disorder resulted in 5 (20.8%) clinical pregnancies and 4 (16.7%) live births (LBs).
CONCLUSIONS: Within the limits of fewer embryos derived from 1PN that yielded unaffected embryos suitable for transfer, the clinical pregnancy and LB rate of 1PN embryos undergoing PGT-M are reassuring. We, therefore, suggest applying PGT-M to embryos derived from 1PN embryos to improve the cumulative clinical pregnancy and LB rates.