Domestic non-invasive DNA prenatal diagnosis

Recently, the Provincial Health and Family Planning Commission issued a notice to clarify that the Provincial Maternal and Child Health Hospital, the Ganzhou Maternal and Child Health Hospital, and the Jiujiang Maternal and Child Health Hospital are the first pilot units in the province, which can carry out high-throughput genetic sequencing prenatal screening and diagnosis. Clinical application. This is a provincial “enhanced version” of the preclinical screening and diagnostic clinical application specification for high-throughput gene sequencing.

Domestic non-invasive DNA prenatal diagnosis

“Since the country has confirmed the pilot hospital in March, many pregnant women have come to our hospital for high-throughput gene sequencing prenatal screening and diagnosis.” On October 8, Liu Yanqiu, director of the Prenatal Diagnostic Center of the Provincial Maternal and Child Health Hospital, said that as of now, The Provincial Maternal and Child Health Hospital has an average of 200 cases per month, and this number is growing every month. In the past six months, the hospital passed this technology and, after diagnosis, blocked 16 defective children for the “pre-mother”.

It is understood that high-throughput gene sequencing prenatal screening and diagnosis technology is also known as non-invasive DNA prenatal diagnosis technology, and its most direct benefit to "pre-mother" is: no need to do amniocentesis immediately, as long as a small amount Peripheral blood can basically judge whether the baby is pregnant. It is reported that although the technology is very popular, the country has previously lacked the corresponding access specifications, and the clinical application of the technology is in a state of disorder. In March of this year, the technology was “national standard”, and the “Notice on the Pilot Work of Prenatal Diagnosis and Prevalence Screening and Diagnosis Clinical Application of High-throughput Gene Sequencing in Prenatal Diagnostic Institutions” was issued again by the Women and Children Division of the National Health and Family Planning Commission. It has clarified that 109 medical institutions nationwide are clinical pilot institutions, and also stipulates the clinical application scope of high-throughput genetic testing NIPT, and strictly establishes clinical service procedures, including informed consent signing, clinical data collection and specimen collection requirements, Test report review use, post-test clinical consultation, follow-up clinical services for high-risk pregnant women, follow-up visits, and statistical reporting.

According to people familiar with the matter, although the National Health and Family Planning Commission has identified hospitals that can carry out the technology six months ago, there are still medical institutions or companies that are not on the designated list to secretly carry out the "business."

The notice issued by the Provincial Health and Family Planning Commission requires that the health and family planning administrative departments at all levels and relevant units should do a good job in supervision. During the pilot period, prenatal diagnostic institutions not included in the pilot and health care institutions that do not have the qualifications for prenatal diagnostic techniques may not conduct high-throughput genetic sequencing prenatal screening and diagnostic clinical applications, which may be based on “land, proximity, mutual trust”. The principle is to sign a working agreement with the three pilot units in the province determined by the National Health and Family Planning Commission, establish a cooperative relationship for specimens, and entrust them to undertake high-throughput genetic sequencing prenatal screening and diagnosis services.

The notice also stipulates that pilot prenatal diagnostic institutions should establish and improve various rules and regulations and relevant technical specifications for high-throughput genetic sequencing prenatal screening and diagnosis services, strictly control the scope of application, improve clinical service procedures, and strengthen pregnant women with high-risk results. Follow-up follow-up management, strengthen quality control and training of relevant personnel, timely report information on pilot work, and effectively improve the ability and management level of prenatal screening and diagnosis services. It is strictly forbidden for any institution to use technical means to perform gender identification of non-medical needs. During the interview, many industry insiders said that after the introduction of provincial documents, it is hoped that the development of high-throughput genetic sequencing prenatal screening and diagnosis will be better regulated and regulated.

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