Peninsula Quan** reporter Liu Xuelian correspondent Xin Zhifeng.
The reporter learned from the recent meeting held in Laoshan District that in 2023, Laoshan District will strengthen the primary prevention of birth defects, and as of December 6, 2023, a total of 1,663 women planning to have children in the district have completed relevant examinations, and 165 female carriers of monogenic genetic diseases and 11 male (spouse) carriers have been identified.
It is reported that in 2023, Laoshan District will take the lead in the province to add 9 kinds of single-gene genetic disease screening and 4 thyroid function tests and thyroid color ultrasound examinations in the pre-pregnancy eugenics project in the form of district ** facts, strengthen the primary prevention of birth defects, reduce personal expenses by about 1.93 million yuan, and have a total of 36 free pre-pregnancy examination items, the most in the city.
At the same time, a new integrated service point for pre-marital medical examination in the district will be built, and a comprehensive publicity and education service platform for pre-marital medical examination will be built to provide citizens with "one-stop" services such as marriage registration, pre-marital medical examination, pre-pregnancy eugenic health examination, and eugenic consultation and guidance. In 2023, the number of premarital medical examinations doubled compared to the same period last year.
Improve the maternal and child health service system supported by higher-level general hospitals and specialized hospitals, with the district maternal and child health care and family planning service center as the core, and based on the community health service centers and community clinics and other grassroots medical institutions, build a "four-level linkage" working mechanism for cities, districts, streets, and villages, and strive to promote prevention, screening, diagnosis, and integrated prevention and treatment services, and continuously improve the ability of comprehensive prevention and treatment of birth defects.
As of December 6, 2023, a total of 1,663 women planning to have children in Laoshan District have completed 9 single-gene disease carrier screenings, 5 thyroid function tests and thyroid color ultrasound examinations. A total of 165 female carriers of monogenic genetic diseases, 11 male (spouse) carriers, and 5 high-risk couples with pathogenic variants in the same gene were detected, including Wilson's disease, phenylketonuria, ocular albinism type I and other serious genetic diseases. Recently, a couple of pregnant couples were diagnosed with Wilson's disease through prenatal diagnosis, and relevant measures have been taken to effectively avoid the irreversible serious consequences and heavy economic burden caused by the birth of the defective child to the family and society.