The Twin Saviour Siblings Have Arrived

Twins born following IVF (in vitro fertilisation) treatment to select embryos which would be a tissue match for their elder brother are thought to be the first incidence in the UK of multiple 'saviour siblings'. Out of just twelve licences granted by the UK's regulatory body, the Human Fertilisation and Embryology Authority (HFEA), to permit families to use tissue typing to create a so-called saviour sibling, only this one has resulted in twins.

Laurence Maguire, 42 and Wendy Plant, 37, decided to try and have a saviour sibling when a worldwide search for a bone marrow donor for their eldest son, Connor, failed. Connor suffers from aplastic anaemia, a condition in which the immune system destroys parts of the bone marrow causing life threatening anaemia. The condition can be treated by with immunosuppressant drugs and regular blood transfusions, but the only prospect of a cure is to have a bone marrow transplant from a tissue-matched donor. Mr Maguire and Ms Plant created five embryos following IVF, two of which were found to be a tissue match for Connor and were implanted into Ms Plant.

The controversy over so-called 'saviour siblings' centres around the idea that couples might wish to have a child as a 'means to an end'. Some argue that this raises concerns over the welfare of the child, who may perhaps not feel as valued as they would if they were conceived under normal circumstances and may even be put under unreasonable pressure to 'save the life' of their sick sibling. However, speaking to the Daily Telegraph newspaper, Mr Maguire defended the family's decision to have a sibling to help their eldest son: 'Once you see your children, any notion that they are spare parts is gone. We wouldn't change anything, they are our children and we love them all. I never ever think that we didn't have the twins for the right reason.'

The twin's umbilical cord blood will be stored at St Helier Hospital in Carshalton in case their brother's condition deteriorates in the future.

Mother of baby born free of breast cancer gene hails 'priceless' procedure

The mother of Britain's first baby selected genetically to be free of a breast cancer gene has hailed the prodecure as "priceless".
She likened the disease to a sword of Damocles hanging over her family and hoped her daughter's birth would help other families. Her baby, born last week, grew from an embryo screened to ensure it did not contain the faulty BRCA1 gene, which passes the risk of breast cancer down generations. Any daughter born with the gene has a 50 per cent to 85 per cent chance of developing breast cancer. The birth has sparked debate about the ethics of embryo screening.
The 26-year-old mother, who refused to be named, said she decided to undergo the screening process after seeing all her husband's female relatives have the disease. Speaking to The Sunday Times, she said: "To be able to look at our daughter and to know that she doesn't have the gene is a massive sigh of relief for us.
"We have eliminated that risk and that is priceless.
"Having watched my husband's family go through what they have been through, knowing that my daughter doesn't need to go through that, makes it all worthwhile.
"I hope this encourages others to do the same."
The baby's 28-year-old father said: "A massive amount of credit has to go to my wife for undergoing what was effectively an invasive procedure of IVF for a problem which wasn't her own but was from my side of the family.
"Talking about how we felt about it probably brought us closer together.
"There are many pitfalls my children may go through in life that I cannot predict for them.
"We do know about this one and that is why we felt a duty to do something about it."
Doctors at the University College London hospital, where the mother received IVF treatment, said they were on Friday that he was "absolutely delighted" at the breakthrough. Medical director at the Assisted Conception Unit Paul Serhal said: "This little girl will not face the spectre of developing this genetic form of breast cancer or ovarian cancer in her adult life.
"The parents will have been spared the risk of inflicting this disease on their daughter.
"The lasting legacy is the eradication of the transmission of this form of cancer that has blighted these families for generations."
The technique, known as pre-implantation genetic diagnosis (PGD) has already been used in the UK to free babies of inherited disorders such as cystic fibrosis and Huntington's disease. But breast cancer is different because it does not inevitably affect a child from birth and may or may not develop later in life. There is also a chance it can be cured, if caught early enough.
Permission to carry out PGD for breast cancer had to be obtained from the Human Fertilisation and Embryology Authority by the London clinic which performed the procedure. The body, which licenses IVF clinics and embryo research, gave the go-ahead after holding a public consultation. Doctors at the private clinic housed at University College Hospital conducted tests on 11 embryos by removing just one cell from each when they were three days old. Six embryos were found to carry the defective BRCA1 gene. Two embryos which were free of the gene were implanted, resulting in a single pregnancy.
Faulty genes are responsible for between 5 per cent and 10 per cent of the 44,000 cases of breast cancer that occur in the UK each year. BRCA1 and its sister gene BRCA2 are the two most commonly involved. Women with a defective BRCA1 or BRCA2 gene are up to seven times more likely to develop breast cancer than those without the mutations.

Genetic screening fails women trying for IVF birth

Genetic screening, often seen as the best hope for older women undergoing IVF treatment to have a child, is ineffective and actually reduces rates of pregnancies, scientists said on Wednesday.

The surprise finding from a controlled clinical trial involving 408 women is a major setback for a technology that is used increasingly in fertility clinics worldwide.

Couples aiming for a test-tube baby can pay between $3,000 (INR 150,000) and $5,000 (INR 250,000) for a preimplantation genetic screening test. The idea is to study the genetic make-up of embryos before transfer to the womb to make sure they are healthy and likely to survive.

But while the concept is very plausible, Dutch researchers found screening in women aged 35 to 41 years actually made matters worse.

After 12 weeks, only 25 percent of women undergoing in vitro fertilisation (IVF) whose embryos had been screened were pregnant, against 37 percent in the control group. Eventual live birth rates were also lower, at 24 versus 35 percent.

Just why screening cuts the chance of a viable pregnancy is unclear but Sebastiaan Mastenbroek from the Academic Medical Centre of the University of Amsterdam said the test itself might be to blame.

"It is possible that the biopsy of a cell from an early embryo on day three after conception hampers the potential of an embryo to successfully implant, though the effect of biopsy alone on pregnancy rates has not been studied," he said in a statement.
Usually, embryos will have reached the eight-cell stage of development by day three but sometimes there may be as few as four cells, which could in theory make the procedure riskier.

Other factors may be the limited number of chromosomes that can be analysed, which may lead to the transfer of embryos that appear normal but in fact contain faults, and the fact many embryos are "mosaic", where a single cell does not properly reflect the genetic make-up of the whole.

Mastenbroek and colleagues presented their work at the annual meeting of the European Society of Human Reproduction and Embryology (ESHRE) in Lyon, France.

The research was also published online by the New England Journal of Medicine, alongside a recommendation from the team that preimplantation should no longer be performed routinely in older women undergoing IVF therapy.

Fertility experts said the findings were a wake-up call for clinicians and showed the need for more research into the benefits, if any, of preimplantation genetic diagnosis (PGD).

Peter Braude, professor of obstetrics and gynaecology at Kings College London, said the work showed screening did not work in older mothers-to-be and similar studies were needed on whether it helped younger women with repeated IVF failure.

"Vulnerable patients should no longer be exploited financially under the impression that it works," he said.

Joep Geraedts, ESHRE’s chairman elect and a genetics expert at the Dutch-Belgian University Limburg, told Reuters in a telephone interview the new study would come as a shock, particularly in the United States, where PGD is widely used.

"No other medical procedure with such profound medical and ethical consequences has been so poorly studied," Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University, Baltimore, said.

IVF clinic sued over haemophiliac boy

A couple who wanted a girl are suing an IVF clinic after the woman gave birth to a boy with haemophilia.

Fiona and Paul Amos asked Melbourne IVF to ensure they only had a female child so Mrs Amos would not pass on the genetic blood condition.

She gave birth to son Jesse, who has haemophilia, on June 1, 2005.

The genetic disorder will impair the ability of Jesse's blood to clot.

In a statement of claim lodged with the Victorian Supreme Court, the couple from St Arnaud, in northern Victoria, are suing Melbourne IVF and its obstetrician and gynecologist Dr David Wilkinson.

They also are suing Ballarat Health Services and Bendigo Radiology.

Mrs Amos underwent treatment at Melbourne IVF between November 2003 and late January 2004.

In the statement of claim, the couple argue the clinic breached its duty of care by failing to advise that pre-implantation genetic diagnosis was not 100 per cent accurate.

They also allege Melbourne IVF failed to advise them that the analysis could lead to the wrong gender of an embryo being diagnosed.

It is further alleged the IVF centre inaccurately reported the embryo contained two chromosomes and failed to report that the embryo contained only one X chromosome.

The couple allege Ballarat Health Services failed to have an ultrasound performed that would have confirmed the child was not female.

It also is alleged Bendigo Radiology failed to confirm the child was male.

They are suing for psychiatric injury including depression, shock and anxiety.

In a statement of defence, Melbourne IVF said the couple failed to refrain from having unprotected sex during their IVF treatment.

It also alleged the couple failed to have a repeat ultrasound after one was carried out in January, 2005, and did not have an amniocentesis, a procedure which could have determined genetic abnormalities.

The matter will return to a later date.