Aga Khan University Hospital
Higher Power
South Africa

Testing of foetuses taking root in Kenya

As early as eight weeks pregnant, more Kenyan women are sending their blood samples to UK, US, South Africa and India laboratories to know if a child in the womb has Down Syndrome, Patau syndrome or Edwards syndrome — genetic conditions that cause a long list of complications, including death immediately after birth or intestines outside the stomach.

‘‘About 80 per cent of the women who come to this clinic do the tests and as standard practice, all pregnant women in Kenya should be offered these tests in addition to the common HIV, syphilis and haemoglobin,’’ says Dr Sikolia Wanyonyi, a foetal medicine specialist at Aga Khan University Hospital.

Dr Wanyonyi, who is also an obstetrician, says these tests empower parents especially in Kenya where children with Down Syndrome have little societal support. ‘‘As a parent, you will know early enough that your baby will have heart defects and will never be independent. You will have to face the cost and emotional burden that comes with bringing up a child with genetic problems. You may choose to terminate the pregnancy, knowing that this child may take up all the resources that you have,’’ he says.

For instance, a foetus with Patau syndrome is likely to die in the womb or hours after birth. If it survives, it will not function at all.

In Africa, such talk is a taboo and if a baby turns out abnormal, it is a curse. A child remains a surprise and trying to dig out information about this tiny creature may feel like taking on the role of the Higher Power.

‘‘I asked myself so many questions. If the child forming in my womb had any abnormality, what would I do? What if the test showed DNA defects but after nine months the baby was born healthy?,’’ she says.

The tests came back. There were no defects in the foetus and Ms Mwenda, then 32, did not require further testing of either the amniotic fluid or the placenta to accurately diagnose Down, Edwards or Patau syndromes.

‘‘If someone looks at it that way, we should close down hospitals. When someone has an illness, a doctor has to intervene. We have been given knowledge to use it to the best of humanity and that is what we are doing.’’

For willing mothers, a blood test is done in early weeks of pregnancy which profiles those at risk of carrying babies with the defective genes. Those with low risks require no further tests. The few with high risks do amniocentesis — a procedure where amniotic fluid is sucked out of the womb using a needle or the doctor sucks out a small placenta tissue for testing, called chorionic villous sampling (CVS).

‘‘Amniocentesis is done under ultrasound guidance and the risk of miscarriage is very low. It is just one prick and the needle is out. When we do a CVS, the needle can also pick the mother’s cells, the test may show cells from two people hence it may have errors,’’ the obstetrician and gynaecologist says.

Among the three genetic disorders, Down syndrome is most prevalent and children can live almost normal lives. Edwards syndrome is fatal. Patau is the worst and babies who survive have to go through many costly surgeries to repair from the eyes, heart to the kidney to prolong their lives.

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