Pregnant patients should be offered the option of prenatal genetic screening and diagnostic testing. The type of screening and testing offered to a patient may depend on various factors including but not limited to age, family history, fetal findings, exposures, and patient preferences. Prenatal screening is available for a variety of genetic conditions including aneuploidy, congenital abnormalities, and carrier status. Diagnostic testing options include karyotype, prenatal microarray, as well as next‐generation sequencing. The various options differ in methodology, accuracy, timing and indication for testing, and information they provide. Given that the technologies related to prenatal testing are rapidly evolving and improving, the array of available screening and testing modalities are increasing. This article reviews the current offerings in prenatal screening and diagnosis.

中文翻译：

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产前基因筛查和检测的现状。

应为孕妇提供产前基因筛查和诊断检测的选择。提供给患者的筛查和测试类型可能取决于各种因素，包括但不限于年龄、家族史、胎儿发现、暴露和患者偏好。产前筛查可用于多种遗传疾病，包括非整倍体、先天性异常和携带者状态。诊断测试选项包括核型、产前微阵列以及下一代测序。各种选项在方法、准确性、时间和测试指示以及它们提供的信息方面有所不同。鉴于与产前检测相关的技术正在迅速发展和改进，可用的筛查和检测方式的种类也在增加。