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

Abnormal Puberty

Puberty is the period of growth that bridges childhood to adulthood and results in physical and sexual maturity as well as the capacity for reproduction. Significant pathology can result in both advanced ……

Prenatal Diagnosis

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. Prenatal ….


This test can detect loss or gain of material in any region of any chromosome as well as both balanced and unbalanced structural rearrangements such as translocations and inversions.


For male infertility, screening tool like Sperm FISH is used for counseling couples with male factor infertility. The analysis can also be undertaken as a rapid investigation for whole chromosome …….

Chromosome Abnormalities

Half of the first-trimester miscarriages are caused by fetal chromosome abnormalities diagnosed by conventional techniques. Techniques such as chromosomal comparative genomic ……..


Chromosomal abnormalities can happen in any cell in the body when egg and sperm cells are being made, during early fetal development, or after birth. A routine cytogenetic analysis involves ……

Cytogenetics Samples

The availability of molecular tools has expanded the resolution and capability of cytogenetic analysis. The CIMAR cytogenetics facility accepts a variety of samples for karyotyping, FISH as well as ……..

Genetic Disorders

Genetic disorders of the sex chromosome (like disorders of the autosomes) can be either numerical or structural, and can be present in all cells or in a mosaic form. Samples can be referred for a wide ……..

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