Purpose

The study aimed to investigate the relationship between elevated maternal body mass index (BMI) and foetal chromosomal aberrations by performing single-nucleotide polymorphism (SNP) array-based genetic testing on products of conception (POC).

Methods

We retrospectively reviewed the data for 1068 assisted reproductive technology (ART)-conceived POC originated from 1068 patients with early spontaneous miscarriage. First, all types of chromosomal abnormalities were defined. Then, the baseline characteristics, including maternal age, BMI, thyroid-stimulating hormone (TSH), gestational age, fertilization method, reasons for fertility treatment, embryo transfer (ET) cycle, stage of embryo development and the embryo morphology grade, were compared between chromosomally normal and abnormal POC groups. Finally, a multivariate logistic regression model was used to analyse various factors affecting the foetal chromosomal abnormality rate.

Results

The SNP array results showed that 45.3% (484/1068) of POC were chromosomally normal and that 54.7% (584/1068) of POC presented chromosomal abnormalities. Of these 584 chromosomally abnormal POC, 388 (66.4%) were trisomy, 42 (7.2%) had a monosomy, 68 (11.6%) were found with segmental aneuploidy, 46 (7.9%) were mosaic, 28 (4.8%) were identified as polyploidy and 12 (2.1%) were euploid samples with uniparental disomy (UPD). Multivariate logistic regression results showed that the risk of miscarrying chromosomally abnormal POC increased 1.424-fold in women with normal BMI compared to women with an elevated BMI (≥ 25 kg/m²) (OR = 1.424, 95% CI = 1.074–1.888, p = 0.014).

Conclusion

Women with an elevated BMI (≥ 25 kg/m²) are more likely to miscarry chromosomally normal POC.

中文翻译：

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受孕产物的基因检测及其与体重指数的关系。

目的

该研究旨在通过对受孕产物 (POC) 进行基于单核苷酸多态性 (SNP) 阵列的基因检测来研究升高的孕妇体重指数 (BMI) 与胎儿染色体畸变之间的关系。

方法

我们回顾性审查了来自 1068 名早期自然流产患者的 1068 名辅助生殖技术 (ART) 受孕 POC 的数据。首先，定义了所有类型的染色体异常。然后，比较基线特征，包括母亲年龄、BMI、促甲状腺激素（TSH）、胎龄、受精方式、生育治疗的原因、胚胎移植（ET）周期、胚胎发育阶段和胚胎形态分级。在染色体正常和异常的 POC 组之间。最后，采用多元logistic回归模型分析影响胎儿染色体异常率的各种因素。

结果

SNP阵列结果显示，45.3%（484/1068）的POC染色体正常，54.7%（584/1068）的POC染色体异常。在这 584 条染色体异常 POC 中，388 条（66.4%）为三体性，42 条（7.2%）为单体性，68 条（11.6%）为节段性非整倍体，46 条（7.9%）为嵌合体，28 条（4.8%）被鉴定作为多倍体和 12 (2.1%) 是具有单亲二体 (UPD) 的整倍体样品。多变量逻辑回归结果显示，与 BMI 升高（≥ 25 kg/m ²）的女性相比，BMI 正常的女性流产染色体异常 POC 的风险增加了 1.424 倍（OR = 1.424，95% CI = 1.074–1.888，p  = 0.014）。

结论

BMI 升高（≥ 25 kg/m ²）的女性更有可能流产染色体正常的 POC。