Prenatal diagnosis of genetic diseases

Prenatal Diagnosis Of Genetic Diseases

Prenatal diagnostic testing involves testing the fetus before birth to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic disorders. Some of these tests, such as ultrasonography and certain blood tests, are often part of routine prenatal care. Ultrasonography and blood tests are safe and sometimes help determine whether more invasive prenatal genetic tests, such as Chorionic villus Sampling( CVS), amniocentesis or percutaneous umbilical blood sampling are needed.
The risk of chromosomal abnormality in the fetus increases with  increasing maternal age. The most widely used technique for prenatal diagnosis is midtrimester amniocentesis, which permits chromosomal or enzymatic studies of amniotic liquor and cultured amniotic fluid cells.

Although recurrent miscarriage affects only 1–3% of couples, it has a major influence on the wellbeing and psychosocial status of patients. Recurrent pregnancy loss is classically defined as the occurrence of two or more consecutive pregnancy losses. The most common causes of the recurrent miscarriages are:

  • Drug and alcohol abuse and /or smoking  during pregnancy
  • Chromosomal abnormality
  • Uterine abnormality and cervical insufficiency
  • Immunologic disorders
  • Polycystic ovary syndrome(PCOS)
  • Bacterial infections

The treatment of recurrent miscarriage depends on the individual cases and will be approached after a thorough examination of the patients.

 

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