Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.

Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.

Objective To develop a kit of time?resolved fluoroimmunoassay(TRFIA)for detection of Schistosoma japonicum protein SjP38,and evaluate its effectiveness. Methods The anti 9G7 SjP38 monoclonal antibody was used as the capture anti?body coated with 96?hole plate,and the Eu3+labeled 1A6 monoclonal antibody was used as the detection antibody to establish the TRFIA SjP38 kit. In addition,the accuracy,sensitivity,precision,stability and coincidence rate to pathogenic diagnosis of the kit were evaluated. Results This established kit possessed high accuracy,wide linear range from 2 to 1 250 ng/ml,high sensitivity with the minimum detectable concentration of 0.14 ng/ml,and good precision(the coefficient variation of the intra?and inter?assay were 3.6%to 4.6%and 5.1%to 6.7%,respectively). The stability tests showed that the reagents could be stable for six months at 4℃,7 d at 37℃. The positive and negative corresponding rates to the pathogen detection method were 95%and 100%respectively. Conclusion All the performance and detection indicators of the kit have reached the requirements of clinical test,but its clinical application still needs further validation.

Biosecurity is defined as effectively responding to biological damage associated with various destructive fac -tors and threats ,maintaining and protecting national interests ,security and public health in the era of globalization .This pa-per analyzes the overall situation of biosecurity capability building since the SARS outbreak in 2003 before concluding that remarkable progress has been made in China , but the gap remains great compared with the need of national security envi -ronment and the capacity building of developed countries .This paper outlines four considcrations regarding the development of biosecurity research strategic planning and offer eight tips on strengthening research on biosecurity technology in China .

Classification of biological agents is a basic work in biodefense capability building that can help set priorities of biodefense .In this study , we compared and analyzed the Biological Agent Category Lists and the defining criteria used by the Center for Disease Control and Prevention ( CDC) of the United States, the European Union and Russia .We also compared with biological agent category lists for other purposes .

ObjectiveTo evaluate the safety and efficacy of biological meshes (human aceUular dermal matrix mesh) in single-stage repair of infected or contaminated abdominal abdominal wall defects and abdominal hernias. MethodsSeventeen patients with abdominal wall defects or abdominal hernias were enrolled. The wounds of all these patients were infected or contaminated due to the existence of enterocutaneous fistula or stoma, wound infection and synchronous colonic resection. The diagnosis included enterocutaeneous fistula 8 cases, incisional hernia 6 cases, incarcerated inguinal hernia 1 case and cylindrical abdominoperineal resection for rectal cancer for 2 cases. The sizes of abdominal defects ranged from 3 cm × 2 cm to 6 cm × 17 cm, and all the cases were repaired with human acellular dermal matrix mesh(RENOV(R)). Most of the patients were repaired with intraperitoneal onlay mesh technique( IPOM, for 12 cases), and other methods included Lichtenstein operation for 1 case, inlay repair for 2 cases and sublay for 2 cases. Results All the 17 patients recovered uneventfully. For 12 patients, the wounds were sutured at operation and only one case of delayed healing occurred due to fat liquefaction. For the other 5 patients, the wounds were left open and healed after vacuum assisted closure (VAC) therapy or wet- to- dry dressing changes. On follow up for 8.3 ±4.5 months ( 1 to 15 months), no occurrence of incisional hernia or recurrence was found. laxity of abdominal wall occurred in one case. A patient complained intermittent pain of the site of suture for mesh fixing two months after operation and the pain resolved spontaneously one month later. ConclusionsThe biological mesh, acellular dermal matrix mesh, could be used in single- stage repair of infected or contaminated abdominal wall defects safely and effectively, although the long-term outcome still needs further evaluation.