A 30-YEAR-old Cypriot mother has given birth to the island’s first set of female twins using pre-implantation genetic screening for thalassaemia and chromosomal anomalies.
Speaking to the Cyprus Mail yesterday, Dr Gabriel Kalakoutis, the Head of the Makarios Hospital’s Gynaecology clinic, said although fertilised eggs had been screened for both thalassaemia and chromosomal anomalies separately, the two procedures had never been combined before.
The programme, which was set up by the IVF and Pre-Implantation Genetics Centre in Maroni near Limassol, and co-operates with Makarios hospital as well as the Chicago Reproductive Genetics Institute, first got under way in 1997 in order to help couples who carry the stigma of thalassaemia to have healthy children. Since then, over 20 children have been born without thalassaemia, and one more woman is expecting.
The pre-implantation genetic screening procedure for thalassaemia involves testing an egg for the mutation and, if thalassaemia free, it is implanted using IVF. Chromosomal anomalies, on the other hand, are screened on the third day of fertilisation, prior to implantation.
“In this case, both the patient and her husband carry the thalassaemia stigma, giving their children a 25 per cent chance of developing the debilitating disorder,” said Kalakoutis.
But the young woman also indicated that she needed to be screened for chromosomal anomalies after she had had four miscarriages, he said.
“Normally, women over the age of 37 are 60 per cent more likely to have a child with chromosomal anomalies. However, in some cases the patient’s history is also an indication for the need to undergo screening. In this instance, the patient had had four miscarriages in the past brought on by chromosomal anomalies, suggesting her embryo was at high risk for developing chromosomal anomalies in this pregnancy,” he said. Therefore, after screening for thalassaemia, on the third day of fertilisation but before implantation, the 30-year-old was screened for chromosomal anomalies.
“Combining both tests is much more laborious and takes more expertise for the correct diagnosis to be made,” he said. “This is the first time this procedure has taken place successfully, both for our hospital and for Cyprus.”
Both the twins and their mother are in good health and the girls will be allowed to go home as soon as they weigh over two kilos, he added.
“They were born prematurely and weighed between 1.25 kg and 1.3 kg. When they’ve put on weight, which should be in a few weeks, they’ll be able to go home.”
