Haemophilia: When a Small Cut Won’t Stop Bleeding

Imagine a small papercut that refuses to stop bleeding, or a bruise that appears for no reason at all. For most of us, blood clotting is an invisible shield, a rapid-response team that patches up our injuries without a second thought. But for those with Haemophilia, that shield is missing a vital part of its […]

When “Clumsiness” is More: A Parent’s Guide to Understand Muscle Weakness in Children

Children’s Clumsiness or Trusting Your “Parental Instinct” Children often trip or fall during their process of learning to walk and which is totally normal since their balance and coordination skills are still in an early developmental stage. However, parents may notice that some children present several struggles for running, climbing stairs, getting up from the […]

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 […]

A Clinically Advanced Approach for Detecting Fetal Chromosomal Abnormalities

A Clinically Advanced Approach for Detecting Fetal Chromosomal Abnormalities

Chromosomal abnormalities are among the most significant contributors to fetal structural anomalies, developmental disorders, and adverse pregnancy outcomes. Conventional prenatal diagnostic technologies, primarily karyotyping and chromosomal microarray (CMA) have played central roles in clinical genetics, yet both are limited in their ability to detect the full spectrum of fetal genomic alterations. Increasing evidence from international […]

Recurrent Miscarriage Diagnosis: A Clinical Perspective and Solutions

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 […]

Apakah Penderita Talasemia Bisa Hamil?

Apakah Penderita Talasemia Bisa Hamil

Talasemia adalah salah satu penyakit serius yang memerlukan penangan khusus. Talasemia juga merupakan penyakit genetik yang diturunkan, oleh karena itu para penderita talasemia perlu waspada jika ingin memiliki keturunan. Lalu, apakah penderita talasemia bisa hamil? Yuk simak artikel ini untuk tahu jawabannya!