Tag: Genetic Disorders
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Tay-Sachs Disease: Understanding the Basics, Risks, and Options
Read more Tay-Sachs disease is an inherited condition that’s quite rare but can be concerning for some couples. If you’re curious about what it is, how it happens, and what you can do about it, you’ve come to the right place. What is Tay-Sachs Disease? Tay-Sachs is a genetic disorder that leads to the gradual…
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Progeria in Infants: Understanding Hutchinson-Gilford Progeria Syndrome
Read more Progeria, also known scientifically as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extraordinarily rare genetic condition that affects approximately 1 in every 4 to 8 million newborns. This syndrome is characterized by accelerated aging in children, with the most prevalent form being Hutchinson-Gilford Progeria. What Are the Symptoms of Progeria? Children diagnosed with progeria…
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Triple Marker Screening Test
Read more Also referred to as the Triple Test, Multiple Marker Screening, and Alpha-fetoprotein (AFP) Plus, the triple marker screening test is a maternal blood test that identifies three specific substances: AFP, hCG, and Estriol. AFP (Alpha-fetoprotein): This is a protein produced by the fetus. hCG (human Chorionic Gonadotropin): This hormone is produced by the…
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Complications and Concerns During Pregnancy
Read more Pregnancy is a beautiful yet complex journey, filled with many changes and surprises. However, it’s essential to be aware that complications can arise for various reasons. Sometimes, existing health issues may contribute to complications, while other times, new conditions emerge due to hormonal and bodily changes during pregnancy. It’s crucial to consult your…
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Amniocentesis: Understanding the Procedure and Its Implications
Read more Amniocentesis is a diagnostic procedure that your healthcare provider may suggest after receiving abnormal results from a triple test. This test is often sought by parents who have concerns about inherited or genetic conditions and wish to determine if specific genetic disorders are present in their baby. How is Amniocentesis Performed? During the…
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Understanding Birth Defects: Insights and Awareness
Read more Birth defects are significant health concerns that can arise during pregnancy, impacting the development of the baby. While the exact causes of many birth defects remain unknown, it is estimated that over 60% of these conditions cannot be pinpointed to specific factors. However, increasing awareness and education about these issues is crucial in…
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Is Noninvasive Prenatal Testing (NIPT) Right for You?
Read more When it comes to early pregnancy screenings, you might have heard about noninvasive prenatal testing (NIPT) — a simple blood test that checks for certain genetic disorders in your baby. It’s fascinating to think that fragments of your baby’s DNA can be found circulating in your bloodstream! This test analyzes that cell-free DNA…
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Why I Chose to Undergo Carrier Screening Before Starting a Family
Read more As my husband and I prepared to embark on the journey of parenthood, I was reminded of a family member who had faced significant health challenges. My cousin Emma grew up with a rare genetic disorder that affected her daily life, and I often wondered if there was a chance that I could…
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Genetic Counseling: A Friendly Overview
Read more Genetic counseling is an essential process where trained healthcare professionals help individuals and families understand the risk of passing on inherited conditions to their children. It involves evaluating family histories, researching health issues, interpreting data about genetic disorders, examining inheritance patterns, and discussing available options with families. Who Should Consider Genetic Counseling? According…