I don’t want surprises after birth

It’s a practice that our grandmothers would declare an abomination but more Kenyan women are paying for tests so they know in advance if their baby has genetic disorders. We speak to one couple who took this route, and explore the benefits and the options available once results are out.

When 39-year-old flight attendant Mary Kahumbu* missed her monthly period after almost two years of desperately trying to get pregnant, her joy knew no bounds.

The Nairobi-based woman had taken a break from her demanding career to settle down and start a family with Brian*.

But her thrill of having her own baby was soon dented when she learnt from her trusted gynaecologist about the higher risks that women who conceive at her age face, including having babies with certain genetic disorders that cause mental and physical disabilities.

The disorders included Down Syndrome, Edward Syndrome, Turner’s Syndrome or neural tube defects among others.

“That knowledge was quite unsettling to me to say the least. My mind kept dwelling on the frightening possibility of having a child with disabilities due to genetic disorders,” she recalls.

Kahumbu was offered the choice of undergoing certain tests to assess her risk of having a baby with the conditions.

She thought about it for a few days, fearing what the results might be but, eventually, she consented out of a compelling desire to know.

Her doctor referred her to Lancet Laboratories in Nairobi where a blood sample was drawn from her arm and the child’s genetic material circulating in her blood was separated and tested for genetic abnormalities such as Down Syndrome and others.

She was also referred to a special ultrasound to check the amount of fluid behind the foetus’ neck for tell-tale signs of the genetic abnormalities or other defects in the spine or brain. The results were to be returned several days later.

“It was stressful waiting for the results due to fear of bad news. Fortunately, I was found to be at low risk even though the doctor clarified that the results didn’t mean the risks were zero,” she said.

“So as I wait for my due date in February, I am praying hard and crossing my fingers hoping my baby will be fine. But at least I am a bit relieved.”

If the first round of testing had found Kahumbu to be at high risk of having a baby with genetic disorders, she would have been offered the choice of other definitive but more invasive tests.

Dr Ahmed Kalebi, a consultant pathologist and Managing Director of Lancet Laboratories, says a growing number of women in Kenya are choosing to undergo prenatal genetic screening to avoid surprises after birth.

Dr Kalebi explains that new technologies have made the screening non-invasive, safer and faster than before therefore drawing more women and couples to seek the service.

“A new non-invasive genetic test (NIPT) called Panorama Test only tests blood samples from the mother’s arm and results are available after a few days,” he says.

“With the faster and more convenient technology, the period of anxiety is reduced and the risks associated with the tests are lower, thus many are opting for these new non-invasive tests.”

Previously, prenatal genetic testing relied solely on relatively risky and time-consuming techniques of obtaining samples of the foetus’ cells from the amniotic fluid or placenta using long needles inserted through the abdomen.

The procedures, called Amniocentesis and Chorionic Villus Sampling respectively, carried a small risk (0.5 to 1 per cent) of causing a miscarriage, a point which proved a turn-off for many women interested in knowing about their babies' health. In addition, couples had to wait for weeks for results, adding to the anxiety.

But Dr Kalebi, explains that while the screening may give peace of mind to mothers whose risk profile is found to be low, it may also cause emotional and psychological trauma in women whose results are less favourable.

“It is the personal choice of a woman or a couple to undergo the genetic screening or not based on their needs and values and how the results will affect them, positively or negatively,” he says.

Consultant obstetrician-gynaecologist Dr Nelly Bosire regrets that many couples or expectant women in Kenya, especially those aged above 35 years, are not offered the option of prenatal screening for genetic abnormalities as should be the case.

She attributed it to the fact the screening may not be affordable to some people and that many expectant mothers (90 per cent) don’t get prenatal care from obstetricians who are qualified to counsel on the need for the genetic screening, expected outcomes and the interventions available in case genetic anomalies are detected.

“Diagnosis helps to determine which mother requires referral to specialists who can provide highly-specialised care to the newborn so as to correct or minimise mortality; who needs continued supportive care to prepare to care for a baby with special needs and who opts for termination of the pregnancy,” she says.

Dr Bosire says that termination of a pregnancy due to genetic abnormalities is one of options availed to the mother, depending on the type of condition.

“Termination of a pregnancy carrying an abnormal foetus, by law, is allowed for women carrying fetuses that are incompatible with life. However, even in the cases where such diagnoses have been made, the mother reserves the right to make the decision herself,” she says.

She adds: “In my experience, not every woman opts to terminate the pregnancy, even when they know that the baby will die at birth. Such mothers are offered supportive counseling and allowed to await delivery at term.

"She will be allowed to labour and deliver and even hold her baby until death happens. It provides closure for her and she must be supported."

*The subject’s real names and that of her husband have been changed at their request to protect their privacy.