• Chorionic villi analysis to detect genetic abnormalities

    Chorionic villi are part of the placenta. This tissue is found in an area of the placenta that is in contact with maternal blood, which makes it essential during pregnancy. If we want to perform
  • What is X-linked recessive inheritance?

    The X chromosome contains many genes that are important for growth and development. The Y chromosome is quite smaller and contains fewer genes. Females have two copies of the X chromosome (XX), thus
  • Toxic agents, radiation and microbes: non-genetic factors that can cause a rare disease

    Approximately 80% of rare diseases have a genetic origin and are present at birth. However, rare diseases are not always caused by a de novo mutation —occurred spontaneously during reproductive cell
  • Amniocentesis test

    Amniocentesis is a procedure by which part of the amniotic fluid (the liquid contained within the amniotic sac) is removed for genetic testing during pregnancy. It is mainly used to detect anomalies