Congenital defects and genetic diseases in the fetus are the focus of prenatal screening and prenatal diagnosis. Obstetrics and gynecology, pediatrics, medical imaging (ultrasound and magnetic resonance imaging), clinical laboratory, pathology, and other disciplines are mostly involved in this multidisciplinary work on maternal and infant health care, which aims to prevent birth defects in strict accordance with laws, regulations, and pertinent industry standards, such as the Notice of the National Health Commission on Issuing the Basic Standards for Prenatal Screening Technical Medical Institutions and the Basic Standards for Prenatal Diagnosis Technical Medical Institutions (Guowei Maternal and Child Letter [2019] No. 297). To further support the implementation of prenatal screening and diagnosis work and streamline workflow, this study has compiled the timing, inspection, and testing procedures of various projects in each link from the standpoint of the disease clinical laboratory diagnostic pathway. This approach improves communication amongst various disciplines in prenatal screening and diagnosis work and offers clinical service quality, and it also helps improve the standard of the birth population and prevent and controll severe birth defects.

Congenital defects and genetic diseases in the fetus are the focus of prenatal screening and prenatal diagnosis. Obstetrics and gynecology, pediatrics, medical imaging (ultrasound and magnetic resonance imaging), clinical laboratory, pathology, and other disciplines are mostly involved in this multidisciplinary work on maternal and infant health care, which aims to prevent birth defects in strict accordance with laws, regulations, and pertinent industry standards, such as the Notice of the National Health Commission on Issuing the Basic Standards for Prenatal Screening Technical Medical Institutions and the Basic Standards for Prenatal Diagnosis Technical Medical Institutions (Guowei Maternal and Child Letter [2019] No. 297). To further support the implementation of prenatal screening and diagnosis work and streamline workflow, this study has compiled the timing, inspection, and testing procedures of various projects in each link from the standpoint of the disease clinical laboratory diagnostic pathway. This approach improves communication amongst various disciplines in prenatal screening and diagnosis work and offers clinical service quality, and it also helps improve the standard of the birth population and prevent and controll severe birth defects.

Non-small cell lung cancer (NSCLC) ranks the first among malignant tumors in China and even in the whole world. In recent years, the developement of genetic testing technology, particularly tumor gene sequencing, has provided a solid basis for the clinical molecular diagnosis of NSCLC, which has greatly increased the chances of patients benefiting from targeted therapy or immunotherapy, and ultimately extending their survival. Standardizing the use of tumor gene sequencing is crucial for the precision medicine in NSCLC. This paper discusses the normalization of tumor gene sequencing technology in the clinical molecular diagnostic pathway of NSCLC, which may promote the standardized use of tumor gene sequencing technology in targeted therapy or immunotherapy drug selection, toxicity and side effect prediction, efficacy monitoring, recurrence and prognosis evaluation of NSCLC patients. This article discusses the standardization of the application of tumor gene sequencing technology in the clinical molecular diagnosis pathway of NSCLC. Additionally, it offers a foundation for the uniform use of tumor gene sequencing technology in other solid tumors.