Prenatal Diagnosis

Fetal Cytogenetics

Prenatal diagnosis employs a variety of fetal cytogenetics techniques to determine the health and condition of an unborn fetus. There may be unpleasant outcome for the fetus or the mother or both, if the couple had not done the prenatal diagnosis. Congenital anomalies account for 20 to 25% of perinatal deaths.


How prenatal diagnosis is helpful?

  • Managing the remaining weeks of the pregnancy.
  • Determining the outcome of the pregnancy.
  • Possible complications with the birth process.
  • Planning for problems that may occur in the newborn infant.
  • Deciding whether to continue the pregnancy.
  • Finding conditions that may affect future pregnancies.

Couples, together with their doctor can decide whether there will be a benefit from the information provided by the results of the prenatal diagnostic procedure.  Each woman’s case is different.


Prenatal diagnosis procedures may be recommended for:

  • Women who will be 35 or older at delivery have an increased risk for a baby with a chromosome abnormality.
  • Couples who have had a baby with a known genetic, chromosome or birth defect.
  • Family history of a genetic disorder, or other birth defects.
  • Couples who have experienced two or more pregnancy losses (spontaneous abortions, stillbirths, or neonatal deaths).
  • Couples with an increased risk of having a baby affected with Down syndrome based on first or second trimester prenatal screening.


Non-invasive and invasive techniques available for prenatal diagnosis

Those who are concerned about having an abnormal baby (especially maternal anxiety) There are a variety of non-invasive and invasive techniques available for prenatal diagnosis. Each of them can be applied only during specific time periods during the pregnancy for greatest utility. The techniques employed include:

  • Amniocentesis
  • Chorionic villus sampling
  • Fetal blood cells in maternal blood

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