RPL Testing - Karyotyping


#1

Hi Ladies,

My RE has sent me to get RPL testing, including karyotyping for DH and me, to make sure there’s no obvious reason for the miscarriage and chemical pregnancy I had this year.

I know most of the RPL testing has to do with blood clotting issues etc, but am wondering what sorts of things the karyotyping could find?

I know they look for certain genetic markers, but does anyone know which ones or how many?

And has anyone had their karyotyping come back “positive” for an issue? If so, what was it? And is the only option then IVF with PGD?

Thanks very much!


#2

Hello! My story sounds similar to yours… a chemical pg and a miscarriage this year. My husband and I just got our kareotype done on Saturday, so hopefully we will have results soon. My RE said that sometimes when genes shrink down to 23 (instead of the 46 that a whole person has) that there are problems compressing or something like that. So, he wasnts to make sure that Dh and I won’t have problems when they “go back together.” When I get my results back I will be sure to let you know of the findings. I wish you luck!:babydust:


#3

Thanks UrzaNLuna!

We went for our bloodwork today, so hopefully wont’ be too long until we know too. I’m actually a little nervous about what we’ll find. Usually with the testing I’m happy to know either way (no problem = good, identified problem = good cuz now we can treat it).

This one freaks me out a bit though, as I worry that a problem could be harder to deal with.

Good luck for both of us.


#4

Karyotyping is looking for any genetic abnormality with [B]you[/B]. When you create eggs and sperm the process of meiosis turns your 2 sets of 23 chromosomes (23 from mom and 23 from dad) into 4 genetically unique cells. If there is an abnormality, even a slight one, in your chromosome makeup, will have catastrophic effects on your mini-me’s.

the thing is, if you have any abnormalities, the genetic oops may be so slight that you may not notice a difference, but if that gene is the one that is passed down, it could cause miscarriage or other defects. For example, every once in a while, a woman will have 3 x chromosomes, instead of 2. This won’t cause a problem for most women, but when you go to create egg, you may create an egg with 2 x chromosomes, and if the sperm that fertilizes that egg is a male, you will have a XXY chromosome makeup…also known as Klinefelter’s syndrome.

I hope everyone gets “Normal” results.


#5

Thanks for the info Amavin!

Still waiting for the results of the karyotyping. I met with my RE today and he said it takes about 3 months, so looks like early March-ish is when we can expect results.

The rest of my RPL panel came back normal. I was “weakly positive” for ANA (anti nuclear antibodies), but he said that 10% of the population has these levels and there’s no indication this is causing any problems for me, so nothing to treat there.

In case anyone reading this is interested, here’s the stuff I had tested:

[FONT=Calibri]1. Anticardiolipin antibodies [/FONT]
[FONT=Calibri]2. ANA [/FONT]
[FONT=Calibri][/FONT][FONT=Calibri]3. Coagulation screen:[/FONT]
[FONT=Calibri]a)[/FONT][FONT=Calibri] homocysteine [/FONT]
[FONT=Calibri]b) Prothrombin gene[/FONT]
[FONT=Calibri]c) Protein C & S [/FONT]
[FONT=Calibri]d) Antithrombin III [/FONT]
[FONT=Calibri]e) Factor V Leiden [/FONT]
[FONT=Calibri]f) Fibrinogen [/FONT]
[FONT=Calibri]g) PT/PTT - PT(INR) [/FONT]
[FONT=Calibri]4. Lupus Anti coagulant (Dilute Russell venom test) [/FONT]
[FONT=Calibri][/FONT]
[FONT=Calibri]So, now the plan is to take DHEA for about 3 months before doing further treatment in the hopes of improving egg quality and limiting risk of future losses, and once I get pregnant doing heparin and intralipids. I thought I’d share what I’ll be doing in case it helps anyone else in a similar situation.[/FONT]
[FONT=Calibri][/FONT]
[FONT=Calibri]Good luck to everyone![/FONT]