Genetic test to help couple avoid haemophiliac baby

Parviz and Kelli Najafi. Picture / Otago Daily Times

Kelli and Parviz Najafi hope to start a family next year, with state help for high-tech embryo testing to avoid haemophilia.

The bleeding disorder crippled Mrs Najafi's late father and she carries the gene which can cause it. Her husband does not have the gene.

This means their male children have a one-in-four chance of having the disorder.

Haemophilia causes recurrent bleeding, usually into joints, because of the lack of a protein essential for blood clotting.

In 2002, Mrs Najafi had a pregnancy that ended in sorrow. She had an abortion after 12 1/2 weeks, after a test confirmed that the fetus, a boy, had the severe haemophilia. "It was the hardest choice my husband and I have ever had to make in our entire life. It was shocking. It was my first pregnancy, which made it even worse," she said yesterday.

Last year she had a miscarriage.

But a new testing method in New Zealand, called pre-implantation genetic diagnosis, or PGD, could mean they will not have to face aborting another haemophiliac fetus.

Instead, the test, used with in vitro fertilisation, IVF, allows embryos to be checked for genetic disorders, including haemophilia. Only those deemed normal are implanted in the woman's uterus.

The Government said yesterday that it would within six months start paying for couples at high risk of having children with serious genetic disorders to have PGD and the associated IVF, which together cost around $12,000.

It expects 40 couples a year will qualify, at a national cost of nearly $500,000. Couples who want the test for chromosomal disorders such as Down syndrome will not be state-funded.

The Najafis, of Dunedin, were planning to visit a Christchurch fertility clinic early next year and pay for PGD and IVF themselves.

"It would probably have crippled us financially but you can't put a price on having a child," said Mrs Najafi, 34, a video store manager, whose husband is a teaching fellow in computers at Otago University.

Now they expect to qualify for state funding.

Mr Najafi said this was a great relief. "We have all the criteria. We wanted to go private because we believed the Government wasn't going to do anything [start paying] for another six months."

What is PGD?

* Pre-implantation genetic diagnosis, known as PGD, includes in vitro fertilisation (IVF) and costs about $12,000.

* About 150 cycles of PGD/IVF are expected to be carried out each year, of which 40 would be state-funded, to detect serious inheritable genetic disorders.

* Overseas, the technology has been used to create designer babies of the "right" sex for purely social reasons - a use of the procedure which is not allowed under New Zealand law.

* The process involves two cells being taken out of each fertilised embryo for genetic testing, and only normal embryos are implanted in the woman's uterus.