The assessments of oocyte quality and quantity and endocrine profile have traditionally been the cornerstone of the general workup of couples with infertility. Over the years, several clinical, hormonal, and functional biomarkers have been adopted to assess ovarian function and identify endocrine disorders before assisted reproductive technology. Furthermore, the genetic workup of patients has drastically changed, introducing novel markers. This not only allowed the prediction of response to ovarian stimulation but also contributed toward the development of a safer and more efficient management of women undergoing assisted reproductive technology.

The scope of this review is to provide an overview of the current and novel strategies adopted for the assessment of ovarian function and ovulatory and endocrine disorders in women planning to conceive. Furthermore, it aims to provide an insight in the role of novel genetic biomarkers and use of expanded carrier screening as part of preliminary workup of women with infertility.

传统上，对卵母细胞质量和数量以及内分泌状况的评估一直是不孕症夫妇一般检查的基石。多年来，已采用多种临床、激素和功能性生物标志物来评估卵巢功能并在辅助生殖技术之前识别内分泌疾病。此外，患者的基因检查发生了巨大变化，引入了新的标记。这不仅可以预测对卵巢刺激的反应，还有助于开发更安全、更有效地管理接受辅助生殖技术的女性。

本综述的范围是概述用于评估计划怀孕妇女的卵巢功能以及排卵和内分泌疾病的当前和新策略。此外，它旨在深入了解新型遗传生物标志物的作用以及扩大携带者筛查作为不孕症女性初步检查的一部分。