Aldika Akbar, Muhammad Ilham
Department Of Obstetrics And Gynaecology, Dr.Soetomo General Hospital, Universitas Airlangga Hospital/Faculty Of Medicine Airlangga University, Surabaya

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Precision Chromosomal Surgery before Birth: Allele-Specific CRISPR-Cas9 Editing for Trisomy 21 in Perinatal Medicine Sanjaya, I Nyoman Hariyasa; Andonotopo, Wiku; Bachnas, Muhammad Adrianes; Prabowo, Wisnu; Yuliantara, Eric Edwin; Lukas, Efendi; Dewantiningrum, Julian; Pramono, Mochammad Besari Adi; Wiradnyana, Anak Agung Gede Putra; Mulyana, Ryan Saktika; Kusuma, Anak Agung Ngurah Jaya; Pangkahila, Evert Solomon; Gumilar, Khanisyah Erza; Darmawan, Ernawati; Akbar, Muhammad Ilham Aldika; Yeni, Cut Meurah; Aldiansyah, Dudy; Bernolian, Nuswil; Pribadi, Adhi; Anwar, Anita Deborah; Suryawan, Aloysius; Putra, Ridwan Abdullah; Gondo, Harry Kurniawan; Nugraha, Laksmana Adi Krista; Andanaputra, Waskita Ekamaheswara Kasumba; Dharma, Wibisana Andika Krista; Djanas, Dovy; Stanojevic, Milan
Indonesian Journal of Obstetrics & Gynecology Science Volume 9 Number 1 March 2026
Publisher : Dep/SMF Obstetri & Ginekologi Fakultas Kedokteran Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/obgynia.v9i1.965

Abstract

Objective: Trisomy 21 remains the most common live-born aneuploidy and a major contributor to perinatal morbidity. Although prenatal screening, particularly non-invasive prenatal testing (NIPT), has advanced substantially, clinical management offers no corrective options. Emerging allele-specific genome-editing approaches propose targeted removal or silencing of the extra chromosome 21. This review summarizes current evidence and evaluates the translational relevance of these technologies in perinatal medicine.Methods: A narrative review was conducted following PRISMA-aligned procedures. A structured search of PubMed, Scopus, and Web of Science (January 2000–July 2025) identified 1,242 records. After duplicate removal, title/abstract screening, and full-text assessment based on predefined inclusion criteria, 54 studies met eligibility requirements. Data were synthesized across four domains: mechanistic strategies, developmental applicability, translational feasibility, and ethical–regulatory considerations.Results: Allele-specific CRISPR-Cas9 studies demonstrated selective cleavage of the supernumerary chromosome 21 in cellular models, with partial restoration of near-euploid transcriptional patterns. Additional approaches—XIST-mediated silencing and centromere destabilization—provided alternative mechanisms with varying stability and specificity. Evidence remains limited to in vitro systems, with no validated embryo or fetal applications. Key challenges include mosaicism, delivery barriers, individualized SNP targeting, and ethical governance.Conclusions: Allele-specific chromosome editing represents a promising but still experimental direction for future perinatal therapeutics. Current findings justify continued multidisciplinary investigation while emphasizing cautious interpretation and rigorous ethical oversight prior to any clinical translation. Abstrak Tujuan: Trisomi 21 tetap menjadi aneuploidi yang paling sering ditemukan pada kelahiran hidup dan merupakan kontributor utama terhadap morbiditas perinatal. Meskipun skrining prenatal—khususnya non-invasive prenatal testing (NIPT)—telah mengalami kemajuan yang signifikan, penatalaksanaan klinis hingga kini belum menawarkan opsi korektif. Pendekatan pengeditan genom spesifik alel yang mulai berkembang mengusulkan penghilangan atau penghambatan terarah terhadap salinan ekstra kromosom 21. Tinjauan ini merangkum bukti terkini serta mengevaluasi relevansi translasional teknologi tersebut dalam kedokteran perinatal.Metode: Tinjauan naratif dilakukan dengan mengikuti prosedur yang selaras dengan PRISMA. Pencarian terstruktur terhadap PubMed, Scopus, dan Web of Science (Januari 2000–Juli 2025) mengidentifikasi 1.242 rekaman. Setelah penghapusan duplikasi, penyaringan judul/abstrak, dan penilaian teks lengkap berdasarkan kriteria inklusi yang telah ditentukan, sebanyak 54 studi memenuhi persyaratan kelayakan. Data disintesis ke dalam empat domain: strategi mekanistik, aplikabilitas perkembangan, kelayakan translasional, serta pertimbangan etika dan regulasi.Hasil: Studi CRISPR-Cas9 spesifik alel menunjukkan pemotongan selektif terhadap kromosom 21 supernumerari pada model seluler, dengan pemulihan parsial pola transkripsi menuju profil ekspresi gen yang menyerupai kondisi euploid. Pendekatan lain—seperti penghambatan berbasis XIST dan destabilisasi sentromer—menyediakan mekanisme alternatif dengan tingkat kestabilan dan spesifisitas yang bervariasi. Bukti saat ini terbatas pada sistem in vitro, tanpa aplikasi yang tervalidasi pada embrio maupun janin. Tantangan utama meliputi mosaikisme, hambatan pengantaran, kebutuhan penargetan SNP individual, serta tata kelola etis.Kesimpulan: Pengeditan kromosom spesifik alel merupakan arah yang menjanjikan, namun masih bersifat eksperimental bagi terapi perinatal di masa mendatang. Temuan saat ini mendukung keberlanjutan penelitian multidisipliner, sekaligus menekankan perlunya interpretasi yang hati-hati dan pengawasan etika yang ketat sebelum penerapannya dalam praktik klinis.Kata Kunci: Bedah genom janin; CRISPR-Cas9; Penyuntingan gen perinatal; Terapi kromosom; Trisomi 21
Anemia dan Preeklampsia dalam Kehamilan: Literature Review Monica Octa Alfiana; Endyka Erye Frety; Muhammad Ilham Aldika Akbar
Malahayati Nursing Journal Vol 6, No 10 (2024): Volume 6 Nomor 10 (2024)
Publisher : Universitas Malahayati Lampung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33024/mnj.v6i10.13871

Abstract

ABSTRACT Anemia is a condition where the hemoglobin level is less than normal. The incidence of anemia in Indonesia is quite high, namely 48.9%. Apart from anemia, the highest pregnancy complication and cause of maternal death in Indonesia is preeclampsia. The cause of preeclampsia is still unknown, but several studies show that risk factors for preeclampsia include maternal age, Body Mass Index (BMI), gestational age, multiple pregnancies, parity, history of preeclampsia, history of hypertension, as well as history of ANC and anemia. to find out more about anemia and preeclampsia which are still the risk factors that have the greatest potential to cause complications and even death in mothers and newborns. Using a literature review study design. Search for articles sourced from the electronic databases Google Scholar and Pubmed with a publication limit of the last ten years. Without enough iron, the body cannot produce hemoglobin to form red blood cells, thus triggering anemia. This causes an increase in the synthesis of corticotrophine-releasing hormone (CRH) due to tissue hypoxia, which then causes uteroplacental insufficiency which results in disruption of the blood supply to the fetus. This is in accordance with the theory of placental ischemia in the pathophysiology of preeclampsia. Anemia and preeclampsia are interrelated so further research is needed to study both. It is hoped that this literature review article can be used as material for further research in studying the relationship between anemia and preeclampsia in pregnancy. Keywords: Anemia, Preeclampsia, Pregnancy  ABSTRAK Anemia merupakan kondisi kadar hemoglobin kurang dari batas normal. Angka kejadian anemia di Indonesia tergolong cukup tinggi, yaitu sebanyak 48,9%. Selain anemia, komplikasi selama kehamilan serta penyebab kematian ibu tertinggi di Indonesia adalah preeklampsia. Penyebab preeklampsia masih belum diketahui secara pasti, namun beberapa penelitian menunjukkan bahwa faktor risiko preeklampsia meliputi, usia ibu, Indeks Massa Tubuh (IMT), usia kehamilan, kehamilan ganda, paritas, riwayat preeklampsi, riwayat hipertensi, dan riwayat ANC serta Anemia. Untuk mempelajari lebih lanjut mengenai anemia dan preeklampsia, dimana keduanya masih menjadi faktor risiko yang paling berpotensi menyebabkan komplikasi hingga kematian pada maternal dan neonatal. Menggunakan desain studi literature review. Pencarian artikel bersumber dari database elektronik Google Scholar dan Pubmed dengan batasan publikasi sepuluh tahun terakhir. Tanpa zat besi dalam jumlah yang cukup, tubuh tidak dapat memproduksi hemoglobin untuk membentuk sel darah merah, sehingga memicu terjadinya anemia. Hal ini menyebabkan peningkatan sintesis corticotrophine releasing hormone (CRH) akibat dari adanya hipoksia jaringan, kemudian akan menyebabkan insufisiensi uteroplasenta yang mengakibatkan gangguan suplai darah ke janin. Hal ini sesuai dengan teori iskemia plasenta pada patofisiologi terjadinya preeklampsia. Anemia dan preeklampsia memiliki keterkaitan sehingga perlu dilakukan penelitian lebih lanjut yang mempelajari keduanya. Diharapkan artikel ini dapat dijadikan bahan untuk penelitian selanjutnya dalam mempelajari hubungan antara anemia dan preeklampsia selama kehamilan. Kata Kunci: Anemia, Preeklampsia, Kehamilan
Analisis Penyebab Preeklampsia Pada Ibu Hamil Eka Cerellia; Ivon Diah Wittiarika; Muhammad Ilham Aldika Akbar
Malahayati Nursing Journal Vol 6, No 9 (2024): Volume 6 Nomor 9 (2024)
Publisher : Universitas Malahayati Lampung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33024/mnj.v6i9.13582

Abstract

ABSTRACT In Indonesia, bleeding accounts for 28% of all maternal deaths, preeclampsia/eclampsia accounts for 24%, and infection accounts for 11%. Preeclampsia can progress to eclampsia in extreme cases when seizure signs are added. The aim of this study was to determine the causes of preeclampsia and factors that increase the likelihood of women developing eclampsia during pregnancy. This type of study for binary logistic data analysis was used to conduct quantitative research. Model for binary logistic regression. 82 participants were sampled. Data collection was done by observation and document collection. Maternal age, birth spacing, gravida, multiple pregnancy, history of diabetes mellitus, body mass index, history of hypertension, history of preeclampsia, and gestational age were the independent variables in this study. Preeclampsia/eclampsia was the dependent variable. The results of this study revealed a significant simultaneous association between gestational age and preeclampsia/eclampsia, gestational age and preeclampsia, maternal age, birth spacing, gravida, multiple pregnancy, history of diabetes mellitus, body mass index, history of hypertension, and history of preeclampsia. In the model, gravida, body mass index, and hypertension all had a considerable partial impact on preeclampsia. Preeclampsia was not significantly affected in the model by maternal age, birth spacing, multiple pregnancy, history of diabetes mellitus, history of preeclampsia, or gestational age. To reduce maternal mortality, it is important to examine the risk factors for eclampsia and preeclampsia, as well as the possibility that these conditions may lead to complications. Keywords: Preeclampsia, Eclampsia, Gravida  ABSTRAK Di Indonesia, perdarahan menyumbang 28% dari semua kematian ibu, preeklampsia/ eklamsia menyumbang 24%, dan infeksi menyumbang 11%. Preeklampsia dapat berkembang menjadi eklampsia dalam kasus ekstrim ketika tanda kejang ditambahkan. Dari penelitian ini adalah untuk mengetahui penyebab preeklampsia dan faktor-faktor yang meningkatkan kemungkinan wanita mengalami eklampsia selama kehamilan. Jenis penelitian ini untuk analisis data logistik biner digunakan untuk melakukan penelitian kuantitatif. Model untuk regresi logistik biner. 82 peserta dijadikan sampel penelitian. Pengumpulan data dilakukan dengan observasi dan pengumpulan dokumen. Usia ibu, jarak kelahiran, gravida, kehamilan kembar, riwayat diabetes melitus, indeks massa tubuh, riwayat hipertensi, riwayat preeklampsia, dan usia kehamilan merupakan variabel bebas dalam penelitian ini. Preeklampsia/ eklampsia adalah variabel dependen penelitian. Hasil penelitian ini mengungkapkan hubungan simultan yang signifikan antara usia kehamilan dengan preeklampsia/ eklampsia , usia kehamilan dengan preeklampsia, usia ibu, jarak kelahiran, gravida , kehamilan kembar, riwayat diabetes mellitus, indeks massa tubuh, riwayat hipertensi, dan riwayat preeklampsia. Dalam model, gravida , indeks massa tubuh, dan hipertensi semua memiliki dampak parsial yang cukup besar pada preeklampsia. Preeklampsia tidak dipengaruhi secara signifikan dalam model oleh usia ibu, jarak kelahiran, kehamilan ganda, riwayat diabetes melitus, riwayat preeklampsia, atau usia kehamilan. Untuk menurunkan angka kematian ibu, sangat penting untuk meneliti faktor risiko eklampsia dan preeklampsia, serta kemungkinan bahwa kondisi ini dapat menyebabkan komplikasi. Kata Kunci: Preeklampsia, Eklampsia, Gravida
Placental micro- and nanoplastic contamination: A systematic review of eco-exposome pathways to preterm birth and neonatal outcomes Sanjaya, I Nyoman Hariyasa; Andonotopo, Wiku; Bachnas, Muhammad Adrianes; Dewantiningrum, Julian; Pramono, Mochammad Besari Adi; Mulyana, Ryan Saktika; Pangkahila, Evert Solomon; Akbar, Muhammad Ilham Aldika; Yeni, Cut Meurah; Aldiansyah, Dudy; Bernolian, Nuswil; Wiradnyana, Anak Agung Gede Putra; Pribadi, Adhi; Sulistyowati, Sri; Stanojevic, Milan; Kurjak, Asim
Majalah Obstetri & Ginekologi Vol. 34 No. 1 (2026): April
Publisher : Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/mog.V34I12026.70-83

Abstract

HIGHLIGHTS First comprehensive synthesis of human and mechanistic evidence linking placental micro- and nanoplastic (MNP) contamination to preterm birth and neonatal outcomes. Quantitative human studies demonstrate higher placental MNP burdens in preterm versus term pregnancies. Molecular pathways identified include oxidative stress, ferroptosis-driven syncytiotrophoblast senescence, trophoblast invasion impairment, inflammatory signaling, endocrine disruption, and epigenetic modifications. Clinical and policy relevance: Findings support the need for standardized biomonitoring, maternal exposure mitigation, and the integration of eco-exposome considerations into perinatal care.   ABSTRACT Objective: To systematically review emerging evidence on micro- and nanoplastic (MNP) contamination of the human placenta, explore molecular pathways underlying placental dysfunction, and evaluate associations with preterm birth and neonatal outcomes. Materials and Methods: Following PRISMA 2020 guidelines, literature searches (in PubMed, Web of Science, and Scopus) and grey sources were conducted through July 2025. Inclusion criteria comprised studies detecting MNPs in the human placenta or fetal compartments, mechanistic experiments using human placental models, or reviews addressing pregnancy outcomes. Methodological quality was assessed using AMSTAR-2, ROBIS, or the Newcastle–Ottawa Scale. Data were synthesized into three evidence domains: human biomonitoring, molecular pathways, and clinical implications. Results: Twenty studies met the inclusion criteria. MNPs were consistently detected in the human placenta, amniotic fluid, cord blood, and meconium, with higher burdens in preterm versus term placentae. Mechanistic studies demonstrated oxidative stress, ferroptosis-mediated syncytiotrophoblast senescence, impaired trophoblast invasion, inflammatory responses (IL-6, TNF-a, NLRP3 activation), endocrine disruption (altered ß-hCG and progesterone signaling), and epigenetic modifications. These pathways converge to impair nutrient and oxygen exchange and immune tolerance, increasing the risks of preterm birth, fetal growth restriction, low birth weight, and neonatal respiratory and metabolic vulnerability. Conclusion: Micro- and nanoplastic contamination of the human placenta is increasingly documented and biologically plausible as a contributor to preterm birth and neonatal morbidity. These findings support urgent investigation of exposure mitigation, standardized biomonitoring, and the integration of eco-exposome risks into perinatal clinical practice and policy.
Co-Authors , Ernawati Adhi Pribadi Aditiawarman Aditiawarman, Aditiawarman Agus Sulistyono Aldiansyah, Dudy Aloysius Suryawan Amelia Rahmah Kartika Amila Anasantrianisa Anak Agung Ngurah Jaya Kusuma Anas, Jimmy Yanuar Andanaputra, Waskita Ekamaheswara Kasumba Andonotopo, Wiku Anita Deborah Anwar Armawa, Syihab Askandar Tjokroprawiro Atika Atika Atika Atika Bachnaas, Muhammad Adrianes Bachnas, Muhammad Adrianes Bambang Purwanto Bambang Rahardjo Bayu Agung Sangkara Putra Bila, Zakia Jihan Salsa Budi Santoso BUDI UTOMO Cut Meurah Yeni Darmawan, Ernawati Dharma, Wibisana Andika Krista Djanas, Dovy Dwi Budi Santoso Ecccita Raheestyningtyas Efendi Lukas Eka Cerellia Endyka Erye Frety Eric Edwin Yuliantara Ernawati Ernawati Evert Solomon Pangkahila Fadhilah Rahmawati Faqihati Husna Hapsari Kinanti Haris Rasyid Ridho Harry Kurniawan Gondo Hermanto Tri Joewono I Nyoman Hariyasa Sanjaya Indah Mayang Sari INDRA YULIATI, INDRA Intan Dewi Angia Sari Ivon Diah Wittiarika Izzati, Dwi Jimmy Yanuar Anas Julian Dewantiningrum Khanisyah Erza Gumilar Khoirunnisa Novitasari Kurjak, Asim Lady Aqnes Kurniawati Laksana, Muhammad Ardian Cahya Lucyana Septia Pramita Made Chindy Dwiyanti Marheni Putri Martono Tri Utomo Mau, Imelda Yovita Monica Octa Alfiana Monika Mongang Manuk Muhammad Adrianes Bachnas Nadira Zahra Maulidya Permana Naomy Simanungkalit Nugraha, Laksmana Adi Krista Nuswil Bernolian Nuzulul Azizah Ramdan Wulandari Pramono, Mochammad Besari Adi Pratama, Nur Aprilianita Pudji Lestari PUNGKY MULAWARDHANA, PUNGKY Putra, Ridwan Abdullah Raheestyningtyas, Ecccita Risa Etika, Risa Rize Budi Amalia Rohmatul Ummah Ryan Saktika Mulyana Samsriyaningsih Handayani Simanungkalit, Naomy Sri Sulistyowati Stanojevic, Milan Theresia Monica Rahardjo Ulhaq, Renata Alya Umiastuti, Pirlina Wardhana, Manggala Pasca Widati Fatmaningrum Wiradnyana, Anak Agung Gede Putra WISNU PRABOWO