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Last updated on April 18, 2014 at 15:29 EDT

First Baby Born Free Of Breast Cancer Gene

January 11, 2009

The first baby in Britain to have been screened before conception to determine her risk of carrying a genetic form of breast cancer has been born, doctors said on Friday.

“She is a beautiful, healthy baby girl,” the child’s mother told UK’s The Sunday Times. “She has 10 fingers and 10 toes. She’s 100% healthy.”

The father’s family has three generations of women who have been diagnosed with breast cancer in their 20s.

But prior to conception, doctors used the process of pre-implantation genetic diagnosis (PGD) to screen for the altered BRCA1 gene, which would have meant the girl had an 80 percent chance of developing the disease.

Pre-implantation genetic diagnosis (PGD) involves taking a cell from an embryo at the eight-cell stage of development, when it is around three-days old, and testing it.

Doctors then select an embryo free from rogue genes to continue the pregnancy, and discard any whose genetic profile points to future problems.

“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.”

Overall, the couple has produced 11 embryos, five of which were free of the altered gene. Those free of the gene have been frozen so that the couple can give birth to more healthy children in the future.

“There are many pitfalls my children may go through in life that I cannot predict for them,” the girl’s father told The Times. “We do know about this one and that is why we felt a duty to do something about it.”

The PGD process has been used with success in other countries before to ensure that babies aren’t born with an altered gene leading to an inherited disease such as cystic fibrosis.

But in 2006, the Human Fertilization and Embryology Authority said doctors could test for so-called susceptibility genes, such as BRCA1.

“The parents will have been spared the risk of inflicting this disease on their daughter,” said fertility expert Paul Serhal, who treated the couple.

If the couple had chosen to give birth naturally without embryo screening, their daughter would have a 50 percent chance of carrying the altered BRCA-1 gene, resulting in an 80 percent chance of developing breast cancer and 60 percent chance of developing ovarian cancer.

“The lasting legacy is the eradication of the transmission of this form of cancer that has blighted these families for generations.”

The couple has chosen to remain anonymous in order to protect their daughter. Their treatment has spurred a series of debates about the ethics of embryo screening.

“Not everyone is fortunate enough to be cured of breast cancer and the treatments that women have along the way are horrific,” said the baby’s paternal grandmother.

“I went through a year of chemotherapy and radiotherapy and this had a huge impact on our family. To know that this child, and the generation after her, will not have this cloud hanging over them is just wonderful.”

However, Josephine Quintavalle, of the campaign group Comment on Reproductive Ethics, told BBC News that she believed the process of embryo screening sends a dangerous message to mothers and their children.

She said it sends the message that “you are better off dead, than being born with this gene”.

“I hope 20 years down the line we will have eradicated breast cancer – not eradicated the carriers,” said Quintavalle.

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Source: upi