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All Journal Jurnal Kedokteran Brawijaya ABDI MOESTOPO: Jurnal Pengabdian pada Masyarakat Journal of Community Development
Eva Diah Setijowati
Universitas Wijaya Kusuma Surabaya
Humanities Computer Science & IT Environmental Science Medicine & Pharmacology Nursing Public Health Social Sciences

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Chromosome Aberration on Growth and Developmental Disorder Eva Diah Setijowati; Herni Suprapti; Maria Widijanti Sugeng; Retno Dwi Wulandari
Jurnal Kedokteran Brawijaya Vol. 32 No. 2 (2022)
Publisher : Fakultas Kedokteran Universitas Brawijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21776/ub.jkb.2022.032.02.5

Abstract

Growth and development in humans begin at conception, which shows progress and interdependence. Normal children show the characteristic of growth and development. In children with growth and development disorder, chromosomal abnormality may be found. This study aimed to determine chromosomal abnormality in patients with growth and development disorder. The samples were taken from karyotype results of patients in the Medical Genetics Laboratory, Faculty of Medicine, Universitas Wijaya Kusuma Surabaya, from 2010-2020. The inclusion criteria were infants to adolescents aged 24 years and unmarried who experienced impaired growth and development, including sexual development. Chromosomal abnormalities were obtained from cytogenetic analysis using the G-banding method. From 75 samples with growth and development disorders, there were abnormalities in the number of autosomal chromosomes and sex chromosomes found in patients with Down syndrome, Turner syndrome, Klinefelter syndrome, and Edwards syndrome. Chromosomal structural abnormalities found were deletion, translocation, inversion, duplication, marker chromosome, and heteromorphism. This study showed the importance of karyotyping in children and adolescents with growth and developmental disorders.
Pengenalan Thalassemia dan Konseling Genetik Pra-Nikah pada Mahasiswa Retno Dwi Wulandari; Eva Diah Setijowati; Indah Widyaningsih
ABDI MOESTOPO: Jurnal Pengabdian Pada Masyarakat Vol 6, No 1 (2023): Januari 2023
Publisher : Universitas Prof. Dr. Moestopo (Beragama)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32509/abdimoestopo.v6i1.2282

Abstract

Thalassemia adalah kelainan gen yang ditandai dengan anemia parah. Penderita membutuhkan transfusi darah berkala untuk dapat bertahan hidup. Kelainan ini dapat ditemukan di seluruh dunia termasuk Indonesia. Prevalensi pembawa thalassemia di Indonesia mencapai 3,8%. Pembawa gen thalassemia tidak menunjukkan gejala, sehingga dimungkinkan pernikahan antara pembawa thalassemia yang berisiko melahirkan anak dengan thalassemia sebesar 25%. Thalassemia dapat dikendalikan dan dicegah dengan program yang komprehensif, mencakup: pendidikan, konseling genetik, skrining pra-nikah dan diagnosis sebelum bayi dilahirkan. Untuk itu dibutuhkan edukasi tentang thalassemia dan konseling pra-nikah kepada mahasiswa untuk meningkatkan pengetahuan mereka dan untuk mengetahui kemungkinan atau risiko-risiko yang dapat diderita oleh keturunan mereka. Sasaran kegiatan adalah mahasiswa Fakultas Hukum dan Fakultas Bahasa dan Sains, Universitas Wijaya Kusuma Surabaya. Metode yang digunakan dalam kegiatan ini meliputi ceramah, diskusi interaktif serta pemberian kuisioner untuk mengukur pengetahuan tentang thalassemia dan mengetahui sikap mahasiswa terhadap konseling dan test pra-nikah. Berdasarkan evaluasi, disimpulkan pemberian edukasi thalassemia meningkatkan pengetahuan dan kesadaran mahasiswa pentingnya konseling dan tes pra-nikah untuk mencegah kelahiran anak-anak dengan thalassemia.
Pengetahuan dan Pendapat Mahasiswa Poltekkes Surabaya Tentang Kelainan Genetik dan Skrining Pra-Nikah Retno Dwi Wulandari; Eva Diah Setijowati
Journal of Community Development Vol. 4 No. 3 (2024): April
Publisher : Indonesian Journal Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.47134/comdev.v4i3.165

Abstract

To ensure couples planning to get married understand the genetic risks related with their future offspring, they need to acquire information about genetic disorders and pre-marital genetic counselling that can be followed by genetic screening. Genetic disorders can be inherited from normal parents who are carriers of abnormal genes, such as thalassemia and Haemophilia. Genetic disorder also encompass chromosomal abnormalities, either the number or structure chromosome. Unlike numerical chromosomal abnormalities in offspring, which have an increased risk associated with the mother’s age during pregnancy, structural abnormalities in parents can be passed to their offspring. This community service activity targets seventh-semester students at Poltekkes Kemenkes Surabaya, who are at an age ready for marriage. The implementation of this activity begins with a pre-test to assess the student ‘s knowledge before the education presentation, followed by presentation with interactive discussion and ended with post-test to determine whether the education was comprehensible to them. Poltekkes Kemenkes Surabaya students showed a better understanding of genetic disorder indicated with an average score increase of 8.2 points (9.2%) based on post test result . All students agree on the importance of pre-marital screening, with the majority willing to undergo premarital screening and still proceed with the marriage if their partner is a carrier of thalassemia.
Co-Authors Herni Suprapti Indah Widyaningsih Maria Widijanti Sugeng Wulandari, Retno Dwi