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re: genetic tsting

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Hello

Glad you had your appt.

Your info on POF is same as what I have been told. It can only be

diagnosed if it has happened, it can't really be predicted. A routine

blood test can tell you if you are ovulating. This is what I did

every month while trying to conceive (at age 33), after a not so

great history.

Pre-natal testing of various degrees is standard for many pregnant

women. Quad screen, CVS, amnio, ultrasound are all forms of screening.

Down Syndrome, cleft palate, ( and many other things which are more

common than BPES) aren't life threatening but they are screened for

all the time. So parents know, so doctors can plan surgeries. Why

shouldn't BPES be screened for in the case of someone like me who has

the mutation?

Only difference I found, Dr. Rosenbaum (Children's Hospital,

Washington DC) tells me pre-implantation diagnosis is available for

families with BPES who conceive via IVF. I think this is a wonderful

advancement, not because I plan to do IVF, but because it is an

advancement, particularly for those of you who haven't started

families yet, and the little ones like my daughter. I am thrilled,

it's progress, for whoever might utilize it.

>

> Hi to everyone,

> My appointment was interesting yesterday. I was very surprised

> about the level of knowledge the doctor had about BPES. Although,

> she advised the best way to discover whether POF is prevalent would

> be via fertility specialists and not through discovering whether

> type 1 or 2 BPES. I thought this would be conclusive but

apparently

> not. I asked about screening of embryos through IVF but this is

not

> an option yet and she thinks this will not be available for another

> 40 years, only life limiting sydromes are screened for. The doctor

> mentioned about pre-natal screening but I was horrified to hear

this

> advice. My view is that if you are going through IVF and embryos

> are screened that's one thing but to have a pre-natal to make this

> choice is a whole different decision which I don't believe should

be

> offered.

>

> The doctor took some blood anyway but no genetic testing for type 1

> or 2 is available in the UK and needs to be sent to france or

> belgium and I was advised results can take up to a year so I will

> definately be concentrating on fertility advice and not holding out

> for the genetic results. If I am able to have a child I would like

> this result as whatever type I am, I understand my child will be.

>

> so the uncertain time for me continues but I will continue reading

> the facinating discussions which is a strength to me at this time.

> Thankyou to those who posted kind words and those involved in

> discussions. I think I may have started quite a healthy

> discussion.

>

> To Bryony (new member) I can emphasize with you, some feelings

about

> POF which I am not sure whether I am at risk from POF or not. I

> have experienced hot flushes but I have also recently come off the

> pill and unsure whether this is a hormonal side effect to this but

I

> am very hypersensitive to everything at present. I hope you find

> this site of use to you as I certainly so. Take care, D

>

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