In an Australian first, two families have delivered healthy babies after using ground-breaking genetic screening to avoid passing on life threatening diseases.
Two babies are born on the same day - one in Melbourne, the other in Sydney. Both are perfectly healthy, although this time that hass not been left entirely to chance.
Benjamin and Sophie are both the result of a radical new treatment called karyomapping, a specialist procedure that can identify selected defective genes in embryos before they are implanted.
Melbourne couple Victoria and Mike used the new technique to screen for the life-threatening condition Congenital Myasthenic syndrome, a rare genetic disorder that can cause severe muscle weakness in infants and is fatal.
“Our first son was affected by this condition, unable to breathe on his own, and died when he was only four weeks old. We were unaware of our carrier status for this condition until we lost our son,” said Victoria.
After taking DNA samples from the parents, doctors were able to compare gene sequences and identify which genetic codes were defective.
That allows them to know which embryos are free of genetic conditions so they can implant the best one.
“Karyomapping allowed us to identify the one most healthy embryo that gave us the best chance of having a healthy baby,” said Mike.
Coincidentally, Sydney couple Alex and Jonathon - who also used the same technology to screen out a breast and ovarian cancer gene - gave birth to a healthy girl on the same day.
"Having a family history of breast cancer and receiving the BRCA 1 diagnosis myself I underwent a preventative double mastectomy last year and plan to remove my ovaries, but first we wanted to have a family,” said Alex.
Compared to previous technologies karyomapping is quicker, cheaper, and while 100 per cent accuracy can't be guaranteed - so far in all cases the faulty gene has successfully been screened out.
”Karyomapping PGD is a major breakthrough in terms of convenience; it maps the DNA fingerprint between the two couples in each party’s DNA and uses that fingerprint to see which genes have been inherited by the embryos,” said Professor Peter Illingworth, of IVF Australia and a member of Virtus Health, which is offering the treatment.
But this genetic screening isn't a service that's available for all families going through IVF. It's only suitable for couples who already know they carry the specific gene for a serious disease.
"We were unaware of our carrier status for this condition until we lost our son."
The procedure also throws up a number of ethical questions.
Ethics experts Dr Bernadette Tobin said while she understands parents want to avoid having unhealthy children, there are concerns about the test being applied more widely.
“There's a question whether that great ideal of human love, the unconditional love of a parent for his or her child, whether that is under threat,” she told SBS.
“It's one thing to screen for a serious disease, it's another to apply it to all prenatal testing,” said Dr Tobin, from the Plunkett Centre for Ethics.
Another question is what happens to the unused embryos once the process is complete.
“Any embryos that are not used are generally carrying a serious health problem and the couple will generally choose to discard those embryos,” said Prof Illingworth.
Dr Tobin says the test means couples will face ethical considerations, and should receive counselling independent of the clinic selling the service.
But for parents who want a healthy baby, the technique has helped stack the odds in their favour.
“We are thrilled to have been able to use this genetic testing to create a daughter Sophie, who will not be affected by this gene – the curse truly stops here,” said Alex.