目的:与单独使用PGT-A的IVF周期相比,使用植入前基因检测单基因疾病(PGT-M)和非整倍体(PGT-A)比较IVF周期中的非整倍体率。并确定与单独使用PGT-A的周期相比,使用PGT-M+PGT-A在周期中获得至少一个可用胚胎的可能性。
方法:回顾性队列研究对象:2019年11月至2023年3月,在单一遗传学实验室,对18-45岁接受PGT-A且有或无PGT-M的患者进行所有IVF周期。
方法:使用PGT-M+PGT-A与单独使用PGT-A的比较结果:共纳入72,522个IVF周期;使用PGT-M+PGT-A的4,255个周期(5.9%)和单独使用PGT-A的68,267个周期(94.1%)。PGT-M+PGT-A组比单独PGT-A组年轻(<35岁:56.1%vs30.5%,p<0.001)。大多数PGT-M周期用于常染色体显性致病变异(42.4%),其次是常染色体隐性遗传(36.5%),X连锁显性(13.3%),和X连锁隐性(7.5%)。对于年龄<35的患者,单独进行PGT-A活检的胚胎中位数高于PGT-M+PGT-A周期,但在所有其他年龄组中相当。与单独的PGT-A周期相比,PGT-MPGT-A之间的年龄分层非整倍体率没有显着差异。在所有遗传模式中,拥有可用胚胎的可能性随着年龄的增长而下降。与单独的PGT-A相比,对于所有遗传模式中年龄≤40岁的患者,PGT-M+PGT-A周期产生可用胚胎的可能性显著降低(p<0.01)。除38-40岁年龄组的常染色体隐性遗传疾病和35-37岁年龄组的X连锁隐性遗传疾病的周期外。在40岁以上的患者中,两组之间没有一致的差异。患有常染色体显性疾病的患者的周期对于年龄<43的患者产生可用胚胎的可能性最低。
结论:使用PGT-M+PGT-A的IVF周期与单独使用PGT-A的IVF周期具有相似的年龄特异性非整倍体率。与单独使用PGT-A的患者相比,使用PGT-MPGT-A的患者≤40的周期产生可用胚胎的可能性明显较小。
OBJECTIVE: To compare aneuploidy rates among in vitro fertilization (IVF) cycles using preimplantation genetic testing for monogenic disorders (PGT-M) and aneuploidy (PGT-A) compared with IVF cycles using PGT-A alone, and to determine the likelihood of obtaining at least one usable embryo in cycles using PGT-M+PGT-A compared with cycles using PGT-A alone.
METHODS: Retrospective cohort study.
METHODS: Single genetics laboratory.
METHODS: All IVF cycles for patients aged 18-45 undergoing PGT-A with or without concurrent PGT-M at a single genetics laboratory from November 2019 to March 2023.
METHODS: Use of PGT-M+PGT-A vs. use of PGT-A alone.
METHODS: Per cycle aneuploidy rate stratified by age, and per cycle likelihood of obtaining at least one usable embryo stratified by age and inheritance pattern of monogenic disease.
RESULTS: A total of 72,522 IVF cycles were included; 4,255 cycles (5.9%) using PGT-M+PGT-A and 68,267 cycles (94.1%) using PGT-A alone. The PGT-M+PGT-A group was younger than the PGT-A alone group (<35 years old: 56.1% vs. 30.5%). The majority of PGT-M cycles were performed for autosomal dominant pathogenic variants (42.4%), followed by autosomal recessive (36.5%), X-linked dominant (13.3%), and X-linked recessive (7.5%). The median number of embryos biopsied was higher in PGT-A alone compared with PGT-M+PGT-A cycles for patients aged <35, but it was equivalent in all other age groups. Age stratified aneuploidy rates did not significantly differ between PGT-M+PGT-A compared with PGT-A alone cycles. The probability of having a usable embryo declined with increasing age across all inheritance patterns. Compared with PGT-A alone, PGT-M+PGT-A cycles for patients aged ≤40 across all inheritance patterns were significantly less likely to yield a usable embryo, except in cycles for autosomal recessive diseases in the 38-40 age group and X-linked recessive diseases in the 35-37 age group. There were no consistent differences seen between groups in patients over 40. Cycles for patients with autosomal dominant diseases had the lowest likelihood of yielding a usable embryo for patients aged <43.
CONCLUSIONS: In vitro fertilization cycles using PGT-M+PGT-A have similar age-specific aneuploidy rates to those using PGT-A alone. Cycles for patients ≤40 using PGT-M+PGT-A are significantly less likely to yield a usable embryo compared with those using PGT-A alone.