OBJECTIVE: To investigate the genetic mechanism for adverse pregnancies due to submicroscopic chromosomal structural variants in two cases, and to provide a precise guidance for preimplantation genetic testing. METHODS: Two families who had visited Chengdu Women's and Children's Central Hospital for reproduction guidance due to recurrent miscarriages, adverse pregnancy history and abnormal genetic testing of the offspring in June and December 2023 were selected as the study subjects. Chromosomal karyotyping and optical genome mapping (OGM) were carried out on peripheral blood samples from the two couples, and preimplantation genetic testing for structural rearrangement (PGT-SR) were performed on the blastocyst trophoblasts. This study was approved by the Medical Ethics Committee of the Hospital (Ethic No.: 2023-23). RESULTS: No abnormality was found on the G-banded karyotyping analysis for both couples. The OGM results revealed that the female partner of couple 1 had a translocation between 4pter-p16.3 (3.99 Mb) and 11pter-p15.4 (2.66 Mb), whilst no abnormality was found in the male partner. Similarly, the male partner of couple 2 had a translocation between 19q13.43-qter (1.90 Mb) and 22q13.31-qter (3.34 Mb). No abnormality was found in the female partner of couple 2. Neither breakpoints nor the adjacent region had involved an OMIM gene, except the formation of a fusion gene ZIM2-AS1-Z82186.1 (Both genes are non-coding, and the fusion gene was deemed as variant of unknown significance). PGT-SR of 11 blastocysts derived from couple 1 revealed that one embryo was suitable for priority transfer, three embryos were suitable for transfer, one embryo was recommended for genetic counselling, and six embryos were unsuitable for the transfer. For couple 2, six blastocysts were tested, of which only one embryo was deemed suitable for transfer. CONCLUSION When genetic testing of offspring indicates copy number variations such as deletions, duplications or mosaicism, the high-resolution OGM technique can be selected to screen parents for submicroscopic chromosomal structural variations. The result can facilitate accurate assessment for the risk of recurrence in offspring, selection of suitable method for reproduction, and identifying targets for PGT.
Humans ; Female ; Pregnancy ; Adult ; Male ; Karyotyping ; Chromosome Aberrations ; Abortion, Habitual/genetics* ; Preimplantation Diagnosis ; Genetic Testing

OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

Human ; Infant, Newborn ; Mass Screening ; Neonatal Screening ; Censuses

Infant, Newborn ; Mass Screening ; Neonatal Screening

Inherited conditions have implications not only for the individual affected but for the entire family. It is in this context that family communication of genetic risk information is important to understand. This paper aims to provide an overview of the construct of family communication of genetic risk and provide implications for healthcare providers. A search of relevant literature was done with electronic databases including PubMed, CINAHL, Embase, Scopus, and Web of Science. The findings from the literature were organized based on the Family Communication of Genetic Risk (FCGR) conceptual framework which highlights the attributes of the family communication of genetic risk process including influential factors, communication strategy, communication occurrence, and outcomes of communication. Healthcare providers need to understand how individuals share genetic risk with their family members so that appropriate support and interventions can be provided to them. This is especially important across countries, including the Philippines, as genetic services and testing move beyond the traditional medical genetics clinic to other medical specialties, a development where we would expect an increase in individuals and family members undergoing genetic evaluation and testing.

Introduction: Dental caries is a preventable chronic disease whereby identification of risk factors will facilitate preventive measures. This study aims to determine the level of oral health literacy (OHL), self-care practices (SCP), salivary parameters and ascertain its assocation with caries status amongst the undergraduates in IMU University. Methods: Levels of OHL (Knowledge-OHL, dental services utilisation, and label reading habit) and SCP were assessed through a self-administered questionnaire. Chairside saliva kits were used to measure the salivary parameters whilst clinical examination was performed to assess caries status. Independent T-test and Analysis of Variance (ANOVA) was used to compare differences between sex and courses respectively for measures of interest (OHL, SCP, salivary parameters, and caries status) whereas bivariate correlation with Pearsons’s coefficient was performed to examine their association with caries status. Results: The participants (n=132) had a mean Knowledge-OHL score of 23.75±8.09 with no significant difference between sex (females, 24.01±8.51; males, 23.48±7.69; p=0.15). Dentistry students had significantly higher Knowledge-OHL score than students of all other courses (p=0.01). The mean SCP score was 20.19±3.16 whereas mean DMFT was 2.32 ±3.14. All participants had healthy saliva parameters. Caries status was significantly correlated with Knowledge-OHL score (p=0.02, r=-0.18), dental services utilisation (p=0.04, r=-0.15) but not with label reading habit (p=0.78, r=0.03), SCP (p=0.30, r=-0.05) and all salivary parameters. Conclusion Knowledge-OHL and oral health services utilisation are significantly associated with oral health status
Dental Caries ; Health Literacy ; Oral Health ; Saliva ; Self Care

BACKGROUND AND OBJECTIVE

Contraceptives are widely acknowledged for preventing unwanted pregnancies. However, there is a prevalent lack of awareness regarding contraceptives, leading to unaddressed misconceptions. This study aimed to identify common contraceptive misconceptions among men and women of reproductive age and explore how primary health workers address them.

A qualitative study was conducted in two phases within District 5, Manila City. Phase 1 comprised focused group discussions with men and women of reproductive age (n=60), while Phase 2 involved conducting in-depth interviews with primary healthcare providers (n=16). MAXQDA, a qualitative software, to organize and code the data, was utilized.

Women of reproductive age reported several misconceptions about contraceptives, including concerns about adverse health effects, emotional and behavioral changes, perceived ineffectiveness, and cosmetic or bodily changes. For instance, they believed that contraceptives could lead to serious health complications, such as cancer, genital injury, and even death. Primary healthcare providers addressed these misconceptions through open dialogue during service delivery, particularly during prenatal and postpartum check-ups and infant immunizations. They utilized patient education strategies, including the teach-back method, and conducted community outreach and workshops on contraceptives and family planning, especially during Women’s Month.

Several misconceptions were identified among women of reproductive age regarding the proper use and safety of contraceptive methods, as well as misguided beliefs. In contrast, men did not exhibit any misconceptions about contraceptives, which warrants further investigation. Primary healthcare providers have taken a proactive approach to address this issue by offering comprehensive explanations and ensuring clear understanding between healthcare providers and women. Promoting contraceptive health literacy could help bridge the knowledge gap between men and women of reproductive age.

BACKGROUND

Sugar-sweetened beverages (SSBs) are a common part of Filipino meals. Increased SSB consumption is linked to weight gain and increased risk of noncommunicable diseases (NCDs). Previous studies have shown that health literacy (HL) is associated with positive health outcomes. However, there are limited studies examining its relationship with specific dietary behavior, including SSB consumption.

The study aims to investigate the association between HL and SSB consumption among Filipinos aged 15 to 70 years.

An analytic cross-sectional study using secondary data from the 2018-2019 National Health Literacy Survey (NHLS) was conducted. A total of 1,765 study participants (15 to 70 years old) were included. Socio-demographic information, daily SSB consumption (33 was considered "sufficient." Multivariate logistic regression was conducted to estimate adjusted odds ratios and confidence intervals for daily SSB consumption.

Out of the 1,765 study participants, 64.14% reported consuming (≥1 SSB drink per day, of whom majority (57.52%) were adults (31 to 59 years old), females (72.21%), married or in common-law partnership (65.70%), living in the Luzon region (47.23%), urban residents (71.94%), high school graduates (30.52%), have an annual household income of PhP 100,000–249,999 (37.03%), and employed (92.61%). Among those consuming ≥1 SSB drink per day, 51.89% had limited HL. Age, sex, and subnational level (National Capital Region, Luzon, Visayas, and Mindanao) were found to be significantly associated with the consumption of ≥1 SSB drink(s) per day. A weak association was found between HL and SSB consumption (aOR: 0.9591; 95% CI: 0.7832, 1.1747), that is, the adjusted odds of having limited HL were found to be slightly lower among those consuming ≥1 SSB drink(s) per day than those who consume

There was a high prevalence of daily SSB consumption among Filipinos. Among the variables considered, only age, sex, and subnational level were found to be significant determinants of SSB consumption. The findings of the study may provide valuable insights for targeted health promotion and education interventions in reducing SSB consumption among Filipinos such as workplace wellness programs, nutrition education, and the provision of healthier beverage alternatives. Priority should be given to younger individuals, males, and residents of the National Capital Region. This research also fills a gap in the literature regarding the role of HL in SSB consumption within the Philippine context. Findings of this study support adopting the Health Literacy Universal Precautions to ensure accessible health information and services for all, regardless of HL level.