These could have been avoided.

What Are Genetic Diseases?

Genetic diseases are health conditions caused by changes (mutations) or abnormalities in a person’s DNA. These changes can affect how the body grows, develops, and functions. Genetic diseases may be:

  • Inherited – passed from parents to children through their genes
  • De novo (new) – occurring for the first time in an individual due to a random change in DNA during egg or sperm formation

Genetic diseases can range from mild to life-threatening, and they may affect physical appearance, organ function, or overall development. Examples include Down syndrome (Trisomy 21), cystic fibrosis, and sickle cell anemia.

How to Reduce the Risk or Avoid Passing on Genetic Diseases

  1. Genetic Counseling
    • Meet with a genetic counselor or fertility specialist to assess your personal and family medical history.
    • Identify potential risks before trying to conceive.
  2. Carrier Screening
    • A blood or saliva test can check if you or your partner carry genetic mutations for specific diseases.
  3. Preimplantation Genetic Testing (PGT)
    • When undergoing IVF, embryos can be tested for genetic abnormalities before being transferred to the uterus.
    • PGT can detect conditions like Down syndrome, cystic fibrosis, and sickle cell anemia, allowing doctors to select healthy embryos.
  4. Prenatal Testing
    • During pregnancy, tests like Non-Invasive Prenatal Testing (NIPT), amniocentesis, or chorionic villus sampling (CVS) can detect genetic problems early.
  5. Healthy Lifestyle and Prenatal Care
    • Avoid harmful exposures (alcohol, smoking, drugs, certain medications)
    • Maintain good nutrition, folic acid supplementation, and regular prenatal checkups to support healthy fetal development.

References

  • Down syndrome (Trisomy 21)

    What is Down Syndrome? Down Syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. Instead of having the usual two copies, individuals with Down Syndrome have three copies (Trisomy 21). Key Characteristics Common physical traits include: Symptoms and Health Concerns Cognitive Development Medical Conditions Diagnosis Prenatal Screening Postnatal…

  • Turner syndrome (Monosomy X)

    What is Turner Syndrome? Turner Syndrome (TS) is a genetic condition that affects females. It occurs when one of the two X chromosomes is completely or partially missing. Normally, females have two X chromosomes (46,XX), but in Turner Syndrome, the karyotype is usually 45,X or includes other structural abnormalities of the X chromosome. Key Characteristics…

  • Klinefelter syndrome (XXY)

    What is Klinefelter Syndrome (XXY)? Klinefelter Syndrome is a chromosomal condition that occurs in males when they have an extra X chromosome. Instead of the typical male karyotype 46,XY, individuals with Klinefelter Syndrome have 47,XXY. Key Characteristics Symptoms and Health Concerns Reproductive and Hormonal Cognitive and Behavioral Medical Risks Diagnosis Prenatal Postnatal Prevention & Risk…

  • Edwards syndrome (Trisomy 18)

    What is Edwards Syndrome (Trisomy 18)? Edwards Syndrome is a chromosomal disorder caused by the presence of an extra chromosome 18 in a person’s cells. Instead of the typical 46 chromosomes, affected individuals have 47 chromosomes. Key Characteristics Symptoms and Health Concerns Physical Neurological Medical Risks Diagnosis Prenatal Postnatal Prevention & Risk Reduction Edwards Syndrome…

  • Patau syndrome (Trisomy 13)

    What is Patau Syndrome (Trisomy 13)? Patau Syndrome is a chromosomal disorder caused by the presence of an extra chromosome 13 in a person’s cells. Instead of the typical 46 chromosomes, affected individuals have 47 chromosomes. Key Characteristics Symptoms and Health Concerns Physical Neurological Medical Risks Diagnosis Prenatal Postnatal Prevention & Risk Reduction Patau Syndrome…

  • Cystic Fibrosis (CF)

    What is Cystic Fibrosis? Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene. These mutations lead to the production of thick, sticky mucus that can clog the lungs and block the pancreas, affecting breathing and digestion. CF is inherited in an autosomal recessive pattern, meaning a child must inherit two defective…

  • Thalassemia

    What is Thalassemia? Thalassemia is a genetic blood disorder that affects the body’s ability to produce hemoglobin — the protein in red blood cells that carries oxygen. It is caused by mutations in the HBB gene (for beta-thalassemia) or genes controlling the production of alpha-globin (for alpha-thalassemia). The severity of thalassemia can range from mild…

  • Sickle Cell Anemia

    What is Sickle Cell Anemia? Sickle cell anemia is a genetic blood disorder caused by a mutation in the HBB gene, which leads to the production of abnormal hemoglobin called hemoglobin S. This abnormal hemoglobin causes red blood cells to become rigid and shaped like a crescent or sickle, reducing their ability to carry oxygen…

  • Huntington’s Disease

    What is Huntington’s Disease? Huntington’s disease is a progressive, inherited neurological disorder caused by a mutation (CAG repeat expansion) in the HTT gene. This mutation leads to the production of an abnormal form of the huntingtin protein, which gradually damages nerve cells in the brain. The condition follows an autosomal dominant inheritance pattern — meaning…

  • Fragile X Syndrome

    What is Fragile X Syndrome? Fragile X syndrome is a genetic condition caused by a mutation (CGG repeat expansion) in the FMR1 gene on the X chromosome. This mutation leads to a lack of production or a reduction of the fragile X mental retardation protein (FMRP), which is essential for normal brain development. It is…

  • Duchenne Muscular Dystrophy (DMD)

    What is Duchenne Muscular Dystrophy? Duchenne muscular dystrophy is a severe, progressive genetic disorder that primarily affects boys, caused by mutations in the DMD gene on the X chromosome. This gene is responsible for producing dystrophin, a protein essential for muscle fiber stability and function. Without functional dystrophin, muscles gradually weaken and degenerate. DMD follows…

  • Tay-Sachs Disease

    What is Tay-Sachs Disease? Tay-Sachs disease is a rare, inherited genetic disorder caused by mutations in the HEXA gene, which leads to a deficiency of the enzyme hexosaminidase A. Without this enzyme, harmful fatty substances (GM2 gangliosides) accumulate in the nerve cells of the brain and spinal cord, leading to progressive neurological damage. It is…

  • BRCA1 / BRCA2 Mutations

    What are BRCA1 / BRCA2 Mutations? BRCA1 and BRCA2 are tumor suppressor genes that help repair damaged DNA and maintain genetic stability. Mutations in these genes can lead to impaired DNA repair, significantly increasing the risk of developing certain cancers, particularly breast and ovarian cancer. These mutations are inherited in an autosomal dominant pattern, meaning…

  • Balanced / Unbalanced Translocations

    What are Balanced / Unbalanced Translocations? A chromosomal translocation occurs when a segment of one chromosome breaks off and attaches to another chromosome. Key Features Common Health Implications How to Reduce the Risk

  • Inversions

    What are Inversions? An inversion is a type of chromosomal structural rearrangement where a chromosome segment breaks off, flips around (inverts), and reattaches in the reverse orientation. Key Features Common Health Implications How to Reduce the Risk

  • Deletions

    What are Deletions? A deletion is a chromosomal abnormality where a segment of DNA is missing. This results in the loss of one or more genes, which can disrupt normal development and cause genetic disorders. Key Features Common Health Implications How to Reduce the Risk

  • Duplications

    What are Duplications? A duplication is a chromosomal abnormality where a segment of DNA is copied one or more times, resulting in extra genetic material. Key Features Common Health Implications How to Reduce the Risk