When Feeding Becomes Dangerous in a Baby’s First Days of Life: How Newborn Screening Can Help Detect Disease Early
Every time a newborn drinks milk, the body immediately begins an extraordinary series of chemical reactions. Proteins are broken down into amino acids, fats are converted into energy, and sugars are transported to fuel rapidly growing organs like the brain and heart. Although feeding may seem like a simple daily routine, it depends on thousands […]
A Genetic Answer for a Rare Disease: Southeast Asian Ovalocytosis Case from Indonesia
For many families affected by rare diseases, obtaining a clear diagnosis can become a long and challenging journey. Patients may undergo multiple laboratory tests, specialist consultations, and hospital visits over several months or even years without finding a definitive answer. This uncertainty not only creates emotional stress for families, but can also make clinical management […]
A Genetic Answer for a Rare Disease: Tuberous Sclerosis Complex Case from Indonesia
For many families living with rare diseases, the journey to diagnosis can be long, emotionally exhausting, and filled with uncertainty. Patients may visit multiple specialists, undergo repeated medical examinations, and still struggle to obtain a clear explanation for their symptoms. In many cases, the absence of a definitive diagnosis can delay appropriate treatment and increase […]
[WORLD DOWN SYNDROME DAY] Smart Pregnancy Planning: Detecting Down Syndrome Before and During Pregnancy
Every year on World Down Syndrome Day, we are reminded of the importance of awareness, understanding, and early support for individuals born with this genetic condition. Down syndrome, also known as Trisomy 21, occurs when a baby has an extra copy of chromosome 21. Normally, a baby inherits 46 chromosomes, 23 from each parent. Think […]
The Evolving Landscape of Renal Cell Carcinoma: A Clinical Overview for World Kidney Day
Have you ever thought about what the two bean-shaped organs in your lower back do? Those are your kidneys. They play a vital role in keeping your body healthy by filtering about half a cup of blood every minute. They remove waste and extra water to produce urine while also maintaining the balance of fluids […]
The Clinical Utility of Whole Exome Sequencing in Rare Disease to End The Diagnostic Odyssey
Rare diseases collectively affect an estimated 6–8% of the global population, yet individually they remain difficult to diagnose due to phenotypic heterogeneity, overlapping clinical features, and limited clinician familiarity. Patients, particularly children, often endure a prolonged and costly journey known as the “diagnostic odyssey”, characterized by repeated hospital visits, inconclusive tests, invasive procedures, and years […]
Recurrent Miscarriage Diagnosis: A Clinical Perspective and Solutions
Recurrent pregnancy loss (RPL) remains one of the most challenging conditions in reproductive medicine, affecting approximately 1–2% of couples worldwide. Among all etiologies, chromosomal abnormalities in the embryo, including aneuploidies, structural rearrangements, and pathogenic copy number variations (CNVs), constitute the largest identifiable cause, particularly during the first trimester, when over 80% of miscarriages occur. Chromosomal […]
PGT-M (Preimplantation Genetic Testing for Monogenic Diseases): Definisi dan Tujuan Pengujian
Ingin memastikan buah hatimu terlahir sehat dan bebas dari penyakit genetik yang serius? Teknologi modern seperti PGT-M bisa jadi jawaban untuk mengurangi risiko penularan penyakit bawaan sejak sebelum kehamilan dimulai. Yuk, cari tahu selengkapnya!
Mengenal Preeklamsia: Pengertian, Gejala, dan Penyebabnya
Ada beberapa kondisi medis yang perlu kamu waspadai untuk menjaga kesehatan diri sendiri dan si kecil dalam kandungan. Salah satu kondisi yang penting untuk dikenali adalah preeklamsia. Kondisi ini bisa membahayakan ibu maupun bayi jika tidak ditangani dengan tepat. Yuk, kenali lebih dalam apa itu preeklampsia, apa penyebabnya, dan gejala apa saja yang perlu kamu […]
Apa itu DiGeorge Syndrome? Kenali Lebih Dekat Penyakit Langka Ini!
Pernahkah kamu mendengar tentang DiGeorge syndrome? Meski tidak sepopuler penyakit lain, kondisi ini ternyata bisa berdampak besar pada kesehatan seseorang sejak lahir. Yuk, kenali bersama!
