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Tag: Genetic Disorders

  • Understanding Phenylketonuria (PKU)

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    Read more Pheylketonuria, commonly known as PKU, is a genetic metabolic disorder that arises from a mutation in the PAH gene. This condition has long posed challenges in diagnosis, but thanks to the implementation of newborn screening tests over the past four decades, early detection has become much more reliable in the United States. PKU…

  • Down Syndrome: Understanding Trisomy 21

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    Read more Down syndrome is a genetic condition that arises from an irregular cell division, resulting in either a full or partial extra copy of chromosome 21. This additional genetic information leads to the distinct developmental changes and physical characteristics associated with Down syndrome. The severity of the condition can differ widely among individuals, often…

  • Triple Screen Test: What You Need to Know

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    Read more The triple screen test, also referred to as the triple test, multiple marker screening, or AFP Plus, is a maternal blood screening that examines three specific substances in the blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and estriol. AFP: This protein is produced by the fetus. hCG: A hormone that is created by…

  • Maternal Serum Alpha-Fetoprotein Test

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    Read more Also known as the Alpha-Fetoprotein (AFP) test, the Maternal Serum Alpha-Fetoprotein Screening (MSAFPS) is a screening tool that measures the level of alpha-fetoprotein in a pregnant woman’s blood. It’s essential to note that this is not a diagnostic test. Typically, it is part of a triple screening test that helps determine if further…

  • Progeria in Infants: Understanding Hutchinson-Gilford Progeria Syndrome

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    Read more Hutchinson-Gilford Progeria Syndrome, often simply called Progeria, is a rare genetic disorder affecting approximately 1 in every 4 to 8 million newborns. This condition is characterized by symptoms of rapid aging in children. The most recognized variant is Hutchinson-Gilford Progeria Syndrome. Symptoms of Progeria Children diagnosed with Progeria typically appear healthy at birth,…

  • Understanding Family Health History for a Healthy Pregnancy

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    Read more When it comes to pregnancy, your own medical history is just the tip of the iceberg. It’s essential to consider your family’s health background as well. From your great-grandparents to your siblings, a lot of factors can influence your pregnancy journey. Here’s why understanding your family health history is important and how to…