Matorras Roberto, Sierra Silvia, Pérez-Fernández Silvia, Malaina Iker, Santos-Zorrozua Borja, Prieto Begoña, Quintana Fernando, Ferrando Marcos, Rubio Carmen, Gantxegi Maitane
Instituto Valenciano de Infertilidad (IVI), IVIRMA, Bilbao, Spain.
Biobizkaia Health Research Institute, Baracaldo, Spain.
J Assist Reprod Genet. 2025 Apr 9. doi: 10.1007/s10815-025-03462-0.
To study the influence of parental age on aneuploidy rates (AR) in PGT-A cycles and on the recurrence rate.
A total of 16,029 PGT-A cycles were studied over a 9-year period. The median age was 40.0 [37.0; 41.0] in women and 40.0 [37.0; 43.0] in men. In 48.3%, the biopsy was performed on day 3 embryos (D3E) and in 51.7% on blastocysts (79.5% using NGS).
In women, the AR was almost constant at < 50% until the age of 35 but increased steadily to reach > 90% at 44. The AR pattern varied according to embryo stage and was considerably higher in D3E, with a steeper curve. A U-pattern was observed in D3E, whereas this was not seen in blastocysts. In the blastocysts analyzed using NGS, trisomy 21 increased sixfold (from < 1% at < 30 to nearly 5% in women aged 40), whereas trisomies 13 and 18 increased their frequency twofold. After 3 biopsied blastocysts studied using NGS, 100% of women aged ≤ 30 had at least 1 euploid embryo, vs 96% aged 31-35, almost 80% aged 36-40, 50% aged 41-45, and 33% aged 46-50. In terms of the man's age, the non-adjusted analysis revealed a correlation with AR. However, after correcting for the woman's age, no correlation was observed. The man's age was not associated with any of the aneuploidies potentially resulting in a newborn.
Carrying out PGT-A systematically in IVF cycles from the age of 38-39 is highly recommended. Advanced paternal age does not carry an increased risk of aneuploidy for the embryo and does not in itself constitute an indication for PGT-A.
研究父母年龄对植入前基因检测非整倍体率（AR）及复发率的影响。
在9年期间共研究了16,029个植入前基因检测周期。女性的中位年龄为40.0[37.0；41.0]，男性为40.0[37.0；43.0]。48.3%的活检在第3天胚胎（D3E）上进行，51.7%在囊胚上进行（79.5%使用下一代测序技术）。
在女性中，AR在35岁之前几乎恒定在<50%，但之后稳步上升，到44岁时达到>90%。AR模式因胚胎阶段而异，在D3E中明显更高，曲线更陡。在D3E中观察到U型模式，而在囊胚中未观察到。在使用下一代测序技术分析的囊胚中，21三体增加了六倍（从<30岁时的<1%增加到40岁女性的近5%），而13和18三体的频率增加了两倍。在对3个使用下一代测序技术研究的活检囊胚进行分析后，≤30岁的女性中有100%至少有1个整倍体胚胎，31 - 35岁的为96%，36 - 40岁的近80%，41 - 45岁的为50%，46 - 50岁的为33%。就男性年龄而言，未校正分析显示与AR相关。然而，在校正女性年龄后，未观察到相关性。男性年龄与任何可能导致新生儿的非整倍体均无关联。
强烈建议从38 - 39岁起在体外受精周期中系统地进行植入前基因检测。父亲年龄较大不会增加胚胎非整倍体的风险，其本身也不构成植入前基因检测的指征。
