Baby Girl Free Of Breast Cancer Gene Due To Be Born Soon

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Main Category: Fertility
Also Included In: Breast Cancer;  Pregnancy / Obstetrics
Article Date: 21 Dec 2008 - 13:00 PST

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The first British baby girl free of the faulty BRCA 1 gene, which significantly raises a woman's chances of developing breast cancer, is due to be born soon. The girl has been genetically selected to be free of the faulty gene. As an embryo, she was screened to make sure she did not have the faulty gene.

The BRCA 1 gene passes the risk of breast cancer down generations. Experts say a woman who carries this gene runs a 50% to 85% risk of developing breast cancer.

All the girl's father's female relatives have developed breast cancer. The mother, who wishes to remain anonymous, decided to undergo the screening, called PGD (pre-implantation genetic diagnosis) in June 2008. She said that both she and her husband decided that is there was a possibility of eliminating this risk for their offspring, then that was a route they had to go down.

PGD has been used before in the UK, but never for the BRCA 1 gene. Screening has been carried out to select embryos free of cystic fibrosis and Huntington's disease.

As breast cancer does not affect a person from birth, and can sometimes be cured, permission for carrying out PGD in this case was sought from the Human Fertilisation and Embryology Authority.

The Assisted Conception Unit, a private clinic which carried out the procedure, is within University College Hospital, London. Experts carried out tests on 11 3-day-old embryos. Six of them were found to carry the gene. Two embryos which did not have the gene were implanted. The mother became pregnant with one.

The screening was carried out by Mr. Paul Serhal - Medical Director, The Assisted Conception Unit.

About Mr. Paul Serhal

The Assisted Conception Unit at University College London Hospital was founded in 1990 by its Medical Director Mr. Paul Serhal MBBS, MRCOG. He has vast experience of male and female infertility and his efforts have ensured that the Assisted Conception Unit is amongst World Class leaders in the pioneering of new techniques for Pre-Implantation Genetic Diagnosis. He has published numerous articles in leading international fertility journals and has presented papers and given lectures at World Conferences. He has appeared on many radio and television documentary programmes debating different issues relating to women's health.

What is Preimplantation genetic diagnosis (PGD)?

PGD was developed as an alternative to prenatal diagnosis, which takes place during the pregnancy. With prenatal diagnosis the parents are told if the fetus is affected by a genetic disease. If so, they can then decide whether to continue with the pregnancy or terminate. Terminating a pregnancy is a hard option for most couples.

With PGD, however, the parents undergo IVF (in-vitro fertilization) procedures - the embryos are produced outside the body. When the embryos are at the 6 to 8 cell stage one or two blastomeres are removed (a blastomere is a type of cell produced by division of the egg after fertilisation). Single cell diagnosis is performed using the polymerase chain reaction (PCR) or fluorescent in situ hybridisation (FISH), depending on the disease being diagnosed. Embryos that do not carry faulty genes are transferred to the uterus, and the pregnancy then starts.

Couples that opt for PGD are usually fertile, and have often experienced a termination of an affected pregnancy. They may have moral or religious reasons for not wanting a pregnancy termination (abortion). Some couples may have experiencds several miscarriages due to chromosomal abnormalities. Click here to view a full explanation for lay people.

Source - Assisted Conception Unit

Written by - Christian Nordqvist
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today