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All Journal Journal of Biomedicine and Translational Research Jurnal Kesehatan Reproduksi
Larasati, Irene Astrid
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Biochemistry, Genetics & Molecular Biology Health Professions Medicine & Pharmacology Nursing Public Health

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Perbandingan Karakteristik dan Luaran Maternal pada Unexpected Spektrum Placenta Akreta saat Pandemi Covid -19 Cahyanti, Ratnasari Dwi; Dewantiningrum, Julian; Pramono, Besari Adi; Larasati, Irene Astrid; Wiyati, Putri Sekar
JURNAL KESEHATAN REPRODUKSI Vol 10, No 2 (2023)
Publisher : Fakultas Kedokteran, Kesehatan Masyarakat dan Keperawatan UGM

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22146/jkr.87601

Abstract

Latar belakang: Pandemi COVID-19 mempengaruhi sistem pelayanan kesehatan di dunia. Kegawatan maternal yang diakibatkan oleh Spektrum Placenta Akreta (SPA) menjadi tantangan di bidang obstetri, khususnya dalam kinerja multidisplin tim dan dukungan sumber daya fasilitas kesehatan.Tujuan: Membandingkan karakteristik dan luaran dari pasien dengan unexpected dan expected SPA saat pandemi COVID-19.Metode: Desain penelitian secara cross-sectional. Pengambilan sampel kasus SPA secara consecutive sampling dari data rekam medis RSUP Dr. Kariadi, Semarang, pada periode 2020 – 2021.Hasil dan Pembahasan: Limapuluh tiga dari 154 kasus (34,42%) merupakan unexpected SPA. Tidak terdapat perbedaan karakteristik yang meliputi umur, indeks massa tubuh, jumlah riwayat sectio cesarea, jumlah riwayat placenta previa, cara persalinan dan kerjasama tim. Jumlah perdarahan dan kebutuhan transfusi darah yang diberikan tidak terdapat perbedaan pada kedua kelompok. Terdapat risiko untuk Cesarean histerektomi pada unexpected SPA (adjusted OR 4,13 (1,31-55,02)). Case Fatality Rate (CFR) pada unexpeted 5,67%, sedangkan pada expected 0,9%. Pada kasus unexpexted SPA didapatkan 3 kasus dengan terkonfirmasi COVID-19 dan meninggal.Kesimpulan: Tata kelola spektrum placenta akreta di RSUP Dr. Kariadi selama pandemi COVID-19 tidak terdapat perbedaan luaran maternal pada kasus unxpected dan expected dan didapatkan kualitas pelayanan optimal dengan CFR yang rendah.Kata kunci: Spektrum Placenta Akreta (SPA), unxpected dan expected, pandemi COVID-19, luaran maternal
Rapid PCR-RFLP Screening of CYP21A2 Variants: Bridging Molecular Diagnostics in a Low-Resource Setting Larasati, Irene Astrid; Maharani, Nani; Utari, Agustini; Winarni, Tri Indah
Journal of Biomedicine and Translational Research Vol 12, No 1 (2026): April 2026
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v12i1.30107

Abstract

Background: The 21-hydroxylase deficiency (21OHD) accounted for the majority of autosomal recessive inherited congenital adrenal hyperplasia (CAH) cases. A genetic test could offer a more thorough diagnostic approach because of the wide range of disease’s severity, but it was challenging in a resource-limited setting.Objective: To apply a simple and cost-effective rapid molecular screening for detecting the most common CYP21A2 variants causing salt-wasting (SW) CAH.Methods: DNA extraction was conducted using a salting out method from a venous blood sample taken from 49 CAH patients without prior genetic testing. A PCR-RFLP approach was utilized using primer sets specifically designed to anneal to the CYP21A2. Specific restriction enzymes were selected to cleave the DNA sequence, differentiating the wild and mutant type, i.e, the p.Arg357Trp, p.Gln318Ter, IVS2-13A/C>G, and exon 6 cluster. Samples positive for those mutation types detected from DNA sequencing, used as positive controls.Results: The most common variant was IVS2-13A/C>G, detected in 26 out of 27 patients. Only 6.1% of 49 patients were found to have the p.Gln318Ter variant. Both the p.Arg357Trp and exon 6 cluster carried inconclusive results. All patients detected with the IVS2-13A/C>G and p.Gln318Ter had a phenotype of SW CAH.Conclusion: The PCR-RFLP was an advantageous method for identifying CYP21A2 variants in a low-resource setting. Nevertheless, the use of multiplex ligation-probe dependent amplification (MLPA) and Sanger sequencing offered a comprehensive analysis to discover novel variants that could help with patients' diagnosis and treatment.
Co-Authors Agustini Utari Besari Adi Pramono Julian Dewantiningrum Nani Maharani Putri Sekar Wiyati Ratnasari Dwi Cahyanti, Ratnasari Dwi Tri Indah Winarni