Gene testing of embryos in South Africa

In the past, most in vitro fertilisation clinics had to send samples to the US or UK if couples wanted to screen embryos for chromosomal abnormalities or genetically transmitted diseases before they were implanted.
But pre-implantation genetic testing of all 24 chromosomes from a single cell, with results in 48 hours or less, is now available at all IVF clinics in South Africa. Jaysen Knezovich, laboratory director of Genesis Genetics SA, said the screening was offered to complement fertility treatments. At least 50 embryos are tested every month.
“The reasons why patients might ask for, or be referred for, pre-implantation genetic testing include recurrent miscarriages, when the female patient is over 35, when the risk of having a child with certain genetic abnormalities, such as Down’s Syndrome, is greatly increased, or when there is a family history of a genetic disease or condition,” Knezovich said.
The first test, pre-implantation genetic screening, looks for extra or missing chromosomes, and all 24 chromosomes are checked for large depletions or duplication of DNA, and for large structural rearrangements of the DNA.
“These chromosome abnormalities usually result in pregnancy failure.”
The second test, pre-implantation genetic diagnosis, is designed to detect a known mutation that is causing a familial genetic condition.
Once embryos are fertilised at an IVF clinic, embryologists take a biopsy from each embryo and send it to Genesis Genetics.
“Once Genesis Genetics determines which embryo samples are genetically normal or abnormal, we send a report to the IVF clinic.
“The referring doctor will decide whether to transfer embryos and, if so, how many and which ones, back to the patient’s uterus
Transfer is usually when the embryo is five or six days old.”
On average pre-implantation genetic screening costs R19500 for up to eight embryos, and pre-implantation genetic diagnosis costs R35000 irrespective of the number of embryos.
“Infertility affects about one in six couples of reproductive age. Globally infertility rates have remained relatively unchanged over the past two decades.”
Close to 7000 IVF treatments, at an average cost of R32000 each, take place yearly in South Africa.
Jason Sive, chief executive of First Health Finance, said his company received fertility-related applications for close to R30-million in funding last year.