Preimplantation Genetic Diagnosis for CMT

[Guest guest]

This is an article I wrote in 2004 for CMTWorld magazine on PGD. I

completely forgot about it and found it in our Archives. There are

some older posts there too on the subject. (search our Archived posts

under 'genetics/CMT/having children' and PGD update, and PGD. There

may be more Types of CMT now that it can apply to and I'm sure the

cost figures are out of date now too. ~ Gretchen

Preimplantation Genetic Diagnosis for CMT

by Gretchen Glick

At last, CMT-free children!

Preimplantation Genetic Diagnosis for CMT Types 1A, 1B, 2E and X

Reproductive genetics now offers preimplantation and preconception

genetics diagnosis to families with confirmed CMT 1A, 1B, 2E and X.

This procedure offers the opportunity for producing children without

passing along the responsible CMT gene.

Preimplantation Genetic Diagnosis (PGD or PID) offers a new method of

in vitro fertilization and conception by performing genetic diagnosis

prior to fertilization or implantation. In this procedure, the CMT

gene can be extracted from the CMT parent(s) thus preventing the

transmission of the CMT gene and resulting in CMT-free children.

Eggs are taken from a woman and united with a man's sperm to first

obtain complete cells (zygote). Then the zygote is stimulated to

divide 3 times to have 8 cells from each. One cell is removed and DNA

is examined to search for the genetic mutation responsible for CMT in

one of the parents (who must know their specific CMT type). Then the

mini-embryos without the mutation are implanted into the woman's

uterus hoping that one will develop into a fetus.

In July 2003, the Center for Reproductive Medicine in Brussels

published their research findings on CMT 1A and PGD. Five couples

were involved in thirteen clinical cycles, resulting in seven embryo

transfers. Three couples produced one CMT-free child each.

Expenses incurred for this procedure vary, but can be in the range of

$7,000 – 15,000 (usfunds). PGD is also done in the UK, Australia,

Italy, Tokyo, Kiev, Larnaca (in Cyprus), St. sburg, and Russia.

Reproductive Medical Centers in the United States working with PGD

couples include those in Chicago, San Francisco, Los Angeles and

Tampa.

For further information contact your neurologist or genetic counselor.

[Guest guest]

>hi

I dont' know about your personal views about when life begins but...I

am actively pro life and would not ever have an abortion. I don't

feel personally that pgd with ivf is the same. For one, anyone who

gets IVF, usually has more than 5-7 fertilized eggs and has to choose

which fetuses they want to try for. Also the cells can only divide

so much without being attached into a woman's uterus. So they have a

very limited time of growth...I see how you feel and my husband views

CMT as part of his life and has helped shape his personality and

given him some serious motivation to succeed in life.

I in NO way feel CMT people are inferior and I think they are

exceptional in many ways....my daughter is super smart and my husband

is a genius!! I just would pay almost ANY amount of money if some

DR. came up with a cure and I could take them and get them healed.

SO why wouldn't I do that before the fact if you know what I mean.

I'm undecided but thanks for all the info Gretchen. As far as I can

tell PGD is now running about $3000-$5000. I appreciate the feedback.

>

> I went through pretty dark month when I realized that my son might

> be afflicted with CMT but not even for a second the thought crossed

> my mind that I wish I did not have . The thought of

> identifying, if the embryo has CMT and than terminating it is

> repugnant to me. This makes me feel same as lots of illiterate

> people here in India, who terminate the fetus if it's a female, as

> girl child is 'perceived' to be inferior than male. How are we any

> different to them if we terminate CMT fetus as we 'perceive' that a

> person with CMT is inferior than other. This is not acceptable to

> me.

>

> I have CMT. I am quite OK about it and in fact at time I am proud

> about it.

>

> I believe I would not have been half as good as I am, had I been

> a `normal' person. And that is so very true for people on this

> board especially Gretchen. The world would have been so much a

> better place with Gretchen Jrs. I know I am commenting on some

> issues which are considered to `personal' in the western world but

> than I am not Westerner and I am quite OK about it and in fact at

> time I am proud about that too.

>

> Sandeep

>