View Full Version : Genetic Testing
Polly
07-16-2007, 02:43 PM
What do you think of genetic testing? Have you had it? What exactly do they do? Is it more common with moms who were adopted and don't have a family history of illnesses and conditions to refer to?
I have a friend who just underwent genetic testing. She's the one with hyperemesis. She was adopted as an infant. Yeah, I think her care is a tad overmanaged.
Polly
We have been offered testing in the past due to my kidney issues and heart issues in both families (HCM & HT in mine, neo-natal death through heart conditions in both his & mine) but we've declined it on the grounds it takes us alot to get and stay pregnant so anyone who was meant to be born to us was meant to be born health issues or not and we would deal.
Marzipan
07-16-2007, 04:57 PM
We are both Ashkenazic Jews and the Ashkenazic Jewish community has a very extensive genetic testing program for a whole host of reasons. We had genetic testing done for about 50 conditions when we got married and there were a few which, were we both carriers, we'd have had ourselves sterilized. Most Jewish couples we know have testing done prior to having any children.
gr8mommy
07-16-2007, 05:25 PM
Why do you think she's being overmanaged? It sounds like the doctor is prudent. If she has no idea of her medical history/genetics, it sounds like it may be a wise thing to do. I'd probably have suggested she do it before getting pregnant though.
Kristen
07-16-2007, 06:06 PM
I think it has its place before a couple has gotten pregnant, definitely.
How is your friend doing, Polly? any better?
Polly
07-16-2007, 09:00 PM
Why do you think she's being overmanaged? It sounds like the doctor is prudent. If she has no idea of her medical history/genetics, it sounds like it may be a wise thing to do. I'd probably have suggested she do it before getting pregnant though.
Don't worry. It's not just the recommendation of genetic testing that made me think he is overmanaging her. I think it is a combination of her doctor recommending every test that I've heard of-she's had 2 ultrasounds (she is 13weeks) already. I know it's part of the genetic testing (CVS) but she had the first one before she started having hyperemesis. I've never heard of that being recommended w/o previous medical condition or suspected condition. A lot of it is just what she says about his bedside manner. Second opinions aren't given because he is a single practice doctor. (I didn't know they still existed in DC!) He partners with another practice but she won't be able to meet the other docs until the 36th week. He only practices at Inova Fairfax Hospital. A good hospital (I was born there!) but it's reputation comes more from having a terrific neo-natal unit than normal delivery and birth. The reputation for an uncomplicated birth is a high C-section rate for failure to progress. I'm not telling her these thoughts because I could be wrong (it's been know to happen! :nannybooboo ) and with the hyperemesis, I don't think she needs another thing to stress her out. I'd rather wait and see. Poor A is so tired from nausea and vomiting that she hasn't that the only thing she's read on pregnancy are the books I sent her that had funny (if possible) chapters on hyperemesis and morning sickness. I sent her the Girlfriend's Guide to Pregnancy and Belly Laughs. I found both to be dead-on and reassuring. Or, at least, funnier than the What to Expect series. Or as I like to call them: How To Scare Yourself When You're Expecting aka What Can Go Wrong, Will Go Wrong. I also gave her my dog-eared copy of Your Pregnancy Week by Week but her husband stole it for lunch time reading.
Polly
gr8mommy
07-17-2007, 08:20 AM
Well, personally as someone who suffered complications in each of my three pregnancies, I'd rather see someone over-managed than under-managed. I hope A is doing better soon.
Polly
07-17-2007, 11:14 AM
Well, personally as someone who suffered complications in each of my three pregnancies, I'd rather see someone over-managed than under-managed. I hope A is doing better soon.
Sorry, I didn't know-what happened?
Oh-I just called A to tell her about the thing my midwife suggested for women suffering from hyperemesis-a caffeine-free regular Coke slupee. Apparently, the cold feels good and the sugar is metabolized quickly. A good thing since she has thrown everything up the past two days. She is now getting vitamin injections.
Polly
If there was a family history of a genetic disorder in either of our families, that would influence our decisions about having a baby, I would have had genetic testing done. Luckily, we're not in that position. However, if we had been, and it was found that we were likely going to have a child with a very serious genetic problem, that definitely would have affected our decision about having children. I'm not sure if we would have decided not to, but it would have been something I'd have thought about.
If they are considering CVS with your friend I hope someone has pointed out to her the associated miscarriage risks with both amnio and CVS- when we were told to consider CVS we actually realised the rate of m/c associated with it for our specialist centre actually exceeded all chances of neo-natal death from the conditions they test for. CVS carries a higher risk than amnio but in many places if actually pushed as a preferred or better test.
We didn't have any done. It was an option, as well as an OB who wanted an amnio, but I declined.
Polly
07-17-2007, 09:15 PM
If they are considering CVS with your friend I hope someone has pointed out to her the associated miscarriage risks with both amnio and CVS- when we were told to consider CVS we actually realised the rate of m/c associated with it for our specialist centre actually exceeded all chances of neo-natal death from the conditions they test for. CVS carries a higher risk than amnio but in many places if actually pushed as a preferred or better test.
Actually, this is why I think her care is over managed. It takes two to tango, so to speak. It's not just the doctor. A is the sort of person who never researches or questions the doctor's advice. (Odd-her mom is a nurse!) She said she hasn't read any of the books on pregnancy yet, like Your Pregnancy Week by Week, etc. So I'm not sure how this all came down. She also did not tell people she was pregnant till her 9th week so she didn't receive any advice from friends who had been there until then.
Polly
A is a submissive person. She became the type of person her mother wanted her to be. It make sense. Her mom is a nurse and A is a really easy patient.LOL
From all that I have heard, I REALLY don't like her doctor. He did not take her hyperemisis seriously early on. He seems to be treating her as a possible statistic and not a patient. I can see why genetic counseling might be in order with her kidney issues but why not consult with a geneticist on the matter before going ahead. I do think he is over managing her pregnancy but not for her benefit. I think it is for his.
I don't mind that she didn't tell people. That is her prerogative. I don't agree with blindly following a doctor though. I did that once....Rai was misdiagnosed and ended up worse because of it. I believe in making informed decisions and that is what concerns me the most about her situation.
What kidney issues does she have? I ask because I have duplex kidney and on my 7th pg (4th baby-we had 3 m/c) they finally landed it on us i should have been advised to stop at one :eek (so good of them to tell us hey?) all my pregnancies I have been closely monitored for my kidneys for signs of early failure but this has been really unobtrusive and the only "extra" testing they have done on my children has been detailed scans at 20 weeks where they had actually waited to see baby empty bladder on screen LOL (ohhh fun when you are really thinking of emptying your own bladder i can tell you) loks was my only pregnancy where they had ever actually raised a vocal concern as so i was placed under the care of a kidney specialist as well as my midwives, I was still able to have a relatively free-choice pg and vaginal drug free birth at the end of it.
gr8mommy
07-18-2007, 06:28 AM
Polly, I developed pre-eclampsia during all three of my pregnancies; my kids were born at 34w 3d, 33w4d and 33w3d respectively.
From the rest of what you and Jo said, her doctor probably is doing things more for self-protection (perhaps on orders from his own insurance company?) than for her benefit. That doesn't mean it shouldn't be done, though. I'll reserve judgement on that.
Polly, I developed pre-eclampsia during all three of my pregnancies; my kids were born at 34w 3d, 33w4d and 33w3d respectively.
From the rest of what you and Jo said, her doctor probably is doing things more for self-protection (perhaps on orders from his own insurance company?) than for her benefit. That doesn't mean it shouldn't be done, though. I'll reserve judgement on that.
Denise my littlest SIL had severe pre-eclampsia leading to her eldest son being induced 6 weeks early- he was the smallest person I have ever seen! With her second pregnancy she took part in a program where they were trying new methods with women with history of severe pre-E and everything went fabulously (she was medicated the entire pregnancy, weekly scans, dietary restrictions and encouragements) she actually went overdue this time!