New technique makes it easier to test for genetic conditionsBMJ 2006; 332 doi: https://doi.org/10.1136/bmj.332.7556.1471 (Published 22 June 2006) Cite this as: BMJ 2006;332:1471
All rapid responses
When I first heard of IVF PGD technique(1), I thought “A procedure
which is for me and which I can eliminate a gene deletion without having
go through the trauma of having another affected child with complex
problems or having to take the step of a termination of pregnancy prior to
weeks gestation” and can only be done in one place in the UK.
Little did I know the trauma of going through the procedure of IVF
PGD and the medical implications and that I could have had 8 embryos after
going through the procedure and all 8 could have been deleted – a waste of
time. The IVF Unit by the HEFA (2) having to be licensed and the
gene deletion checked and rechecked a number of times as to potential
For individuals who have used the Pre-Implantation Genetic Diagnosis
technique, it is indeed:
a) time consuming. It took over six months to be extensively
examined for a deletion albeit few medical tests were actually done and
more important ones overlooked or done to ascertain whether or not I was a
suitable candidate for IVF.
b) emotional, the treatment has a tremendous affect on hormone
balance and takes months to rebalance itself.
c) distressing when the procedure does not work.
There are at present insufficient places where specific genetic tests
can be performed and one has to be referred from genetic centre to IVF
through application procedures at local PCT special funding.
As a person affected by a gene deletion, I can understand the views
the likes of the Disability Rights Organisation, after all, I am
to have a disability. I also do not want anyone of my family to suffer
same gene deletion and believe it is morally wrong to knowingly pass
complex gene deletions on to others.
The procedure for pre-implantation genetic diagnosis is indeed
different and people who choose this route, do it carefully balancing the
and benefits and other alternatives available. Many of them have already
CVS or Amnios. It is not because they can not get pregnant, some of
them have lost children whom they are still grieving.
I also believe that there is no point in getting a diagnosis if:
a) that people are not prepared to do all they can to eliminate a
potential life-threatening diagnosis
b) that genetic specialists take on board that they actually have the
deletion, explain the deletion, monitor the effects of the deletion.
The difficulty with some of these deletions that people can lead a
normal life and assume to lead a normal life and an understanding of their
complete gene deletion is necessary.
Risks such as autoimmune disease, hypoparathyroidism, thyroid
problems should be explained along with candida.
Whilst these new techniques are novel, they appear expensive but in
comparison to the costs of having a disabled child, stress, trauma and
anxiety that goes with it all and potential loss of life - one case being
different from another.
Education of genetics needs to take place within the medical
profession as a
whole on a wide-scale basis before such processes become normal and
accepted and should be offered on a risk versus benefit basis as routine.
1 Iwarsson E, Ahrlund-Richter L, Inzunza J, Fridstrom M, Rosenlund
Hillensjo T, Sjoblom P, Nordenskjold M, Blennow E.
"Preimplantation genetic diagnosis of DiGeorge Syndrome" 1: Mol Hum
Reprod. 1998 Sep;4(9):871-5.
2. People Science & Policy Ltd "Report for the Department of
Health on the
Consultation on the review of the Human Fertilisation & Embryology
Competing interests: No competing interests