You, your baby and chromosomes

Humans have 46 chromosomes, consisting of 23 pairs with one chromosome of each pair inherited from each parent.

Chromosomes can be abnormal in terms of their number or structure, which can result in a vast array of possible conditions in a child. Down syndrome, caused by an additional copy of chromosome number 21, is the most well-known. There is an increased risk of chromosomal abnormalities in the following situations, and women may want to consult a Genetic Counsellor if any are present in their family:

  • A history of a chromosomal condition in the family.
  • A woman who has had a previous pregnancy or child with a chromosomal abnormality.
  • Other tests have demonstrated possible abnormal findings, such as blood tests and ultrasound.
  • Woman who are older than 35 years.

Luckily for expectant parents, there has been exciting new progress in the field of genetic screening in the unborn baby, with the advent of Non-Invasive Prenatal Testing (NIPT).

Research has revealed that a fetuses DNA enters the mother’s bloodstream from the 5th week of pregnancy. This DNA can be obtained by simply drawing blood from the mother, as would normally be done for any other test (such as a glucose test). Non-Invasive Prenatal Testing (NIPT) is the method of collecting this blood, isolating the foetuses DNA and then testing it for abnormalities.

NIPT is considered a great step forward in the field of fetal screening for a number of reasons:

  • It assesses the fetal DNA rather than indirect markers considered proxies for chromosomal abnormalities. It is thus much more accurate and reliable than the standard methods of screening, with correct results in 99.9% of tests
  • It can be done as early as the 10th week of pregnancy.

Intercare Salubrity is excited to now offer this testing through its exclusive partnership with Genoma, a Swiss based biotechnology company with the largest genetic clinical diagnostics platform in Europe and who specializes in genetic testing. Genetic counselling can also be arranged, and is used to help assess your risk and determine the need for testing.

For more information about this test or to access Genetic Counselling, please call 086 999 0669 or send an email to genetics@salubrity.co.za. You can also visit our website.

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