A gentle PSA on genetic testing and other screening.

sideboth · December 2014

1st trimester screening and other genetic tests aren't for "termination". They are for allowing a mother and father to make an informed decision on their pregnancy. Yes, termination is an option and thanks to early testing is a option that isn't mired in a legal nightmare. But testing is also so that both the parents and the doctor can make the necessary preparations during pregnancy and also right after birth.

A child might only be with a family for a short time after birth and it's good for the nurses and doctors to prepare a safe and loving environment for that family. Other results might mean that the baby needs oxygen or other life saving procedures directly following birth. I see genetic testing as no different than the anatomy scan that very few mothers are going to turn down. And I also think that it will become far more common beyond mothers of advanced maternal age.

A common comment on this board...I'm not having this testing because I wouldn't "terminate" so I don't need to know. That is a valid option. So are people who choose to face their diagnoses with as much information and support as possible.

jjbdvm · December 2014

Well put

mathistm · December 2014

But just as people choose to not have an anatomy scan, they may also turn down the genetic testing. It is hopefully an informed decision that each family chooses for themselves based on their own circumstances and feelings.

Trampslikeus · December 2014

*** loss mentioned ***

Thank you. Everything, yes. And I just wanted to add, knowing in advance also allows parents to make arrangements for moments like this:

These are birth/bereavement photos, and are extremely emotional and triggering - extra warning -
The first story mentioned is about Trisomy 18, and because the parents knew in advance, they had arrangements made for the birth, and the funeral. Getting testing done is NOT about having only conditional love for a perfect baby.

https://www.cnn.com/2014/10/15/living/bereavement-photography-infant-loss-awareness/

sideboth · December 2014

@mathistm. Each family should ABSOLUTELY choose the right decision for themselves. Raising a special needs child is a brave decision and choice. But terminating a pregnancy is also a brave and hard choice. Every single woman on this board is having a wanted pregnancy and would be heartbroken to learn of a complication in their pregnancy.

My post was more about the tone and message when responding to certain threads, especially ones asking about more information on genetic testing.

littlebear&bugbug · December 2014

Well said, everyone. This is never an easy topic.

mathistm · December 2014

@sideboth‌. I definitely understand and think your message is absolutely necessary in light of reading a couple of posts today/tonight. My message is in regards to a few posts I have also seen shaming women who decide not to have testing done, calling it irresponsible and selfish.

sideboth · December 2014

@matistm. Absolutely! And didn't mean to call you out. Everybody gets to make their own choices and no one gets special points for whatever that decision is. We support regardless.

beckynsean11 · December 2014

Well stated. No woman should be made to feel guilty for wanting to know as much as possible.

*****loss mentioned****

I watched a friend make the excruciating decision to terminate. I never thought I would make that decision, no matter what the results of screening were. I was wrong. I had been handed the same diagnosis as her, I absolutely would have mage the same choice. That choice was made out of love for her child. There was no chance of survival for the baby & a good chance that the baby was in pain. No one should have to go through that & add to it the shaming that comes from those kind of comments.

I also watched another friend find out that her daughter had a rare heart deformity & for her to have any chance of survival, she would need to deliver at a hospital states away & need to save up for numerous surgeries. Knowing ahead allowed her to be completely prepared. She now has a beautiful 3 year old when most kids with that diagnosis don't make it to 1. Had she not known & delivered at the local hospital, there's a real possibility that her daughter would not be here today.

ETA: I hope that's not too rambly, I get very emotional about this topic.

sgarmand · December 2014

I have serious question. My DH and I decided to not do the first trimester genetic screening. Mostly just because DH really didn't want to, and my OB would've sent me an hour and a half away to have it done.

We were not given hardly any options, nor did anyone explain to us exactly what is tested for. Of course, the only thing ever mentioned is Downs, when in reality there is much more than that. The nurse did say that of course, if anything looks abnormal at the anatomy scan, they will look into it and/or test further.

I guess my question is, the heart defects some have mentioned, and other various things you need to be better equipped for at birth - wouldn't those show up on an anatomy scan? If so, are these posts directed towards people who not only turn down genetic testing, but the anatomy scan as well? And if those things aren't detected on the anatomy scan, I fear I made a serious mistake waving the testing. I tried to do my own research, but there is so much, it's hard to gather ALL of it on my own.

beckynsean11 · December 2014

@sgarmand‌ the early screenings look for a variety of things & have varying degrees of accuracy.
In the case of my friend that terminated, she found out very early (with certainty) that there were defects & she was able to start selling with some of those emotions very early. It wasn't until her anatomy scan that they knew the severity. The one with the heart defect was discovered at A/S. So either would have been caught at that point.
There are people that opt out of the A/S for whatever reason. The issues probably would have been discovered in 3rd tri for both of my friends, but they may not have had adequate time to prepare had they waived all screening.
In the end, you have to trust yourself to make the right decision for your family. I've known plenty of people to skip 1st tri screenings.

Gah, I'm having trouble making words tonight.

sideboth · December 2014

@sgarmand. Rather than copy and paste a huge wall of text... see link

https://www.panoramatest.com/en/expecting-mother/faqs

Not everything screened will show up in an anatomy scan. A lot of these conditions will.

The anatomy scan allows for the technician to specifically look for certain things if a diagnosis is already know. Yes, an anatomy scan will look for these things and usually catch any issues.

For those who would consider termination, often an anatomy scan would be a little to late to make that decision without huge burden and travel.

There is no right or wrong decision on testing. Age is a big factor for a lot of us. All pregnancies are a chance and welcome to motherhood where you second guess every single decision you make.

sgarmand · December 2014

@beckynsean11 Okay, I feel a little better. I guess I always assume people are talking about first tri screening when they talk about genetic testing. Personally, I could never imagine not having the anatomy scan, for the very reasons you stated. This whole time I never thought about people passing on the anatomy scan. How naive of me.

Schnurette · December 2014

Yessss this. DH got all huffy because someone we knew did the testing and knew their child would have a 'defect' of some form but continued with the pregnancy. He was of the opinion that there was no point doing the test if you 'aren't going to do anything anyway'. I had to explain to him that having the forewarning allowed them to prepare, emotionally, mentally, and physically for a child with special needs.

I didn't end up doing it this time because I'm an idiot and forgot to make a drs appt and now can't get in until after it's too late lol

deduva · December 2014

When my DH and I were asked in our first pregnancy about the quad screening we decided it wasn't needed. We would not terminate. However, the dr. changed our mind bc of the point he made. He said why not do the non-invasive screening to help the medical staff prepare at time of delivery and there after. We decided to move forward with that screening so everyone could better prepare.
We had a healthy little boy. This pregnancy we will opt for the same screening. This is a good "food for thought" topic.

mccall35 · December 2014

Thank you for this.

HMack4742 · December 2014

This was well said. Thanks you.

***Loss Mentioned***

We didn't have any testing done with our first three babies. Our last one passed away from trisomy 13. We have decided to go ahead with the testing for this one. We won't go above the blood tests and ultrasound.
It's a very personal decision and we feel that if we know in advance this time around that our child might have an incompatible with life diagnosis, we can prepare ourselves in advance.

bashfulbird · January 2015

Aww thank you for all of the helpful insights. This is a great thread! My problem is with the false positives, I don't want spend my pregnancy thinking about a diagnosis that cant be confirmed absolutely until birth. I do like the idea that the medical staff will be prepared at the time of delivery.

staciecoffey · January 2015

This has all been very well said.

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