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All Journal MEDIA MEDIKA INDONESIANA Journal of Nutrition and Health Jurnal Psikologi Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Jurnal Keperawatan Anak Indonesian Journal of Urology Journal of Biomedicine and Translational Research Universa Medicina Paediatrica Indonesiana Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research
Sultana MH Faradz
Division Of Human Genetics, Center For Biomedical Research, Faculty Of Medicine Diponegoro University
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing Public Health Social Sciences

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Genetic Counselling Empowers Parents of Children with Intellectual Disabilities : A Fragile X Syndrome Perspective Amir, Mentari; Aulia, Siti Farhanah; Ranakusuma, Octaviani Indrasari; Faradz, Sultana MH
Journal of Biomedicine and Translational Research Vol 11, No 1 (2025): April 2025
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v11i1.25938

Abstract

Background: Intellectual disabilities (ID) profoundly affect individuals and their families, leading to financial strain, emotional distress, and limited access to healthcare and education. Fragile X Syndrome (FXS), the most common inherited cause of ID, remains largely underdiagnosed in Indonesia due to limited awareness and resources. Objective: This study aimed to assess the impact of genetic counselling on parental empowerment. Methods: This pre-experimental study employed a before and after counselling. A total of 238 parents of children with ID from four special schools in Jakarta participated. Data were collected using the Genetic Counselling Outcome Scale-24 (GCOS-24), which assesses empowerment. Purposive sampling was applied, and data were analysed using paired t-tests and one-way ANOVA. Results: The mean GCOS-24 score increased significantly from 106.79 (SD = 16.36) before counselling to 125.11 (SD = 15.42) after counselling (p < 0.001). Only 27.3% of parents were aware of genetic disorders, reflecting their limited baseline knowledge. A one-way ANOVA analysis showed a statistically significant difference in GCOS-24 score improvements based on parental education level (F=4.035, p=0.008) with parents with primary school education showing the greatest improvement compared to those with high school (p < 0.05). Conclusions: Genetic counselling significantly enhanced parent empowerment, as evidenced by increased GCOS-24 scores. These findings emphasize the importance of expanding genetic counselling services and educational initiatives in Indonesia to improve awareness and support for families managing ID.
Low sEng Level in Preeclampsia with MFTHFR Gene Polymorphism Suggesting a Protective Factor Pramono, M. Besari Adi; Faradz, Sultana MH; Suhartono, Suhartono; Susanto, Hardhono; Rachmawati, Banundari; Pramono, Noor
Journal of Biomedicine and Translational Research Vol 11, No 3 (2025): December 2025
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v11i3.29375

Abstract

Background: Preeclampsia is one of the most serious complications of pregnancy and the leading cause of maternal and fetal mortality. Various studies have shown that Glutathione Peroxidase (GPx) deficiency and increased Soluble endoglin (sEng) level are consistently associated with the incidence of preeclampsia. Several studies also show the role of MTHFR A1298C and C677T gene polymorphisms in preeclampsia.Objective: This study investigated association between blood GPx, sEng levels, MTHFR A1298C and C677T gene polymorphisms in Preeclampsia.Methods: This analytic observational case-control study was conducted on 70 cases of preeclampsia and 70 controls. Blood GPx and sEng levels were measured using Enzyme Linked Immunosorbent Assay (ELISA). MTHFR A1298C and C677T gene polymorphism was genotyped using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The data obtained were analyzed using the Mann-Whitney U test, chi-square test, and independent T-test.Results: There were no significant differences in GPx levels or MTHFR A1298C/C677T genotype distribution between groups. sEng levels were significantly higher in the preeclampsia group than controls (p=0.001). ROC analysis identified a cut-off of 7.75 ng/mL. Among preeclampsia patients, those with the MTHFR 1298AC/CC genotypes had lower sEng levels than wildtype (p=0.027), suggesting a potential protective effect. No association was found for C677T.Conclusion: We found no significant difference in GPx level, MTHFR A1298C and C677T gene polymorphism between preeclampsia and control group. Soluble endoglin (sEng) level in the preeclampsia group (mean: 11.0±5.22) were significantly different (p=0.001) compared to the control group (mean: 8.1±5.31). Increased level of sEng is associated with incidence of preeclampsia. A key finding in this study is the significantly lower sEng levels observed in preeclampsia patients carrying the MTHFR 1298AC and 1298CC alleles compared to the control group (p=0.027). This indicates a protective factor where in preeclampsia with MTHFR gene alleles 1298AC and 1298CC sEng levels are lower compared to wildtype.
Co-Authors A, Mahayu Dewi Achmad Zulfa Juniarto Agustini Utari Aisha Balkhar Ali Amir, Mentari Ani Melani Maskoen Annastasia Ediati Ardy Santosa Ardy Santosa Ardy Santosa Aulia, Siti Farhanah Baharudin Baharudin Banundari Rachmawati Ben CJ Hamel Bregje WM van Bon Bremmy Laksono Ching Leng Kee Costrie G. W Daldiyono Hardjodisatro, Daldiyono Darmono Dik Puspasari Donna Hermawati Dwi Kustiani, Dwi Eddy Sudijanto, Eddy Fanti Saktini Farmaditya EF Mundhofir, Farmaditya EF Farmaditya EP Mundhofir Farmaditya EP Mundhofir Farmaditya EP Mundhofir Fatinah Shahab Ferdy Kurniawan Cayami Hardhono Susanto Hary Tjahjanto Helger G Yntema Hery D Purnomo, Hery D Hery Djagat Purnomo Inu Mulyantoro Inu Mulyantoro Jessica Juan Pramudita Kasno Kasno Lantip Rujito Lies Anne Severijnen, Lies Anne M. Besari Adi Pramono, M. Besari Adi Mahayu Dewi Ariani Maria Belladonna Rahmawati Martina Ruiterkamp-Versteeg Muhammad Hussein Gasem Nani Maharani Ni Made Indri Dwi Susanti Niken Safitri Dyan Kusumaningrum Noor Pramono Nur Farhanah Nurin Aisyiyah Listyasari Nurin Aisyiyah Listyasari Nurin Aisyiyah Listyasari Nydia Rena Benita Sihombing Nydia Rena Benita Sihombing Octaviani Indrasari Ranakusuma Peter Hanzon, Peter R Djokomoeljanto1, R Rahajeng N Tunjungputri Rahman Jamal Rayvita AN Meagratia Rita Indriyati Rob Willemsen, Rob Santosa Santosa Sue-Mian Then Suhartono Syarief Taufik Tan Yue Ming Tri I Winarni Tri Indah Winarni Udin Bahrudin Vikawati, Nura Eky W, Costrie G. Willy M Nillesen Wiwik Lestari Ziske Maritska