Genetic Screening... Yay or Nay?

asly02 · July 2017

I've had my own DNA tested and I'm clear of diseases for the baby to inherit. Should I get genetic screening for Down's etc when it's only gonna be for downselecting the baby? Why else would you get genetic testing if not to downselect the pregnancy? I'd spend the rest of my pregnancy worried about the baby. Am I thinking about this testing wrongly? Thoughts, tips, advice please. I'm 38.

Melissa9481 · July 2017

I haven't had my appointment yet but I'll be 36 when this one is born. If they offer testing Ill probably do it only to prepare myself mentally and with resourses I might need if they find something like Downs. I dont plan on invasive testing but I'll agree to bloodwork.

soulcupcake · July 2017

They are screenings that can provide useful information even if you wouldn't TFMR. For instance, 50% of babies born with Ds have CHDs, which can be missed on diagnostic ultrasound (it happens more than you think), so having the screening performed and receiving a risk assessment (there's no such thing as "false positives") may allow the MFM specialist pertinent information if the screening yields a "screen positive," which varies based on the practice. Some go by 1 in 200 and others 1 in 150. You'd have to check with your practice and their lab ranges. If, say, you receive a "screen positive," the specialist can perform high level ultrasounds to specifically check for soft markers and other anomalies associated with Ds or another trisomy disorder, rather than going in blind and chance missing them. The specialist can also order a fetal echocardiogram to check the heart. You *can* opt for non-invasive monitoring if you don't choose to TFMR. The genetic screenings are a tool. Just like diagnostic ultrasound. If you wouldn't TFMR, why opt for diagnostic ultrasound? To rule out any anomalies, right? There are more genetic conditions that are typically only diagnosed via ultrasound, and expectant parents are referred to genetic counselors in the same way should ultrasound detect major anomalies.

The screenings are just that. Screenings. Even in the event of a screen positive of, say, 1 in 100, odds are still in your favor, and if chromosome testing yields negative for the trisomy, it doesn't mean it was "false," it just means your (general) baby wasn't the one in the 1 in 100 risk assessment. Another mother's baby will be that one. By doing the screening, you have more vital information to work with, especially if there are increased risks.

Ashoes123 · July 2017

I'm a strong proponent myself. More information is always good thing. In the worst case scenario with a positive test, you have the additional time to find a good pediatrician that specializes in the particular disorder, a good daycare or provider that you feel best suits your child's needs, more time to research yourself, and prepare and come to terms with the situation. I also think the preparation could help prevent some postpartum depression that could result from the overwhelming feeling of a new baby as well as an unexpected disorder.

ashhsa · July 2017

I think I would always rather know and be prepared for what is to come- how lucky we are to have that ability before the baby is here? So we can alow mental/financial resources- and of course physically prepare a space for- and reach out to services who can help prepare you for a child who does have chromosomal abnormality such as Down syndrome.

I'm not sure what "downselecting" means?

Aeml1985 · July 2017

I am having the nuchal ultrasound at 12 weeks with the accompanying bloodwork. I did it with my pregnancy before as well and I was 28, this time I'll be 31.

I wouldn't terminate the pregnancy if it was positive for downs, but my husband and I would need time to wrap our heads around the fact that our child would have higher/different needs. Plus it's a lot to think about in terms of guardianship should something happen to us, wills, etc.

and correct me if im wrong, but it might screen for other trisomys that aren't compatible with life; in that instance I don't know that I would be strong enough to continue with a pregnancy.

LadyMillil · July 2017

I'm going to do genetic screening so I have time to prepare if anything comes up.

mommaSG · July 2017

I am opting to take the testing. I feel its importnant to be prepared as much as possi le for any outcome and so i can prepare my kids as well. I have step brother who has cp so i feel i u derstand the needs that would be a priority plus my dgree is in psychology. If my chikd had downs it wouldnt cha ge a thing i am just one of those parents that feel i would like to be prepared to give my baby everything i could

alemarie1 · July 2017

Hello. I'm doing NIPT testing this time around again. The testing isn't 100% but it will give you piece of mind, plus a bonus is finding out baby's gender

SunflowerMama428 · July 2017

@soulcupcake what does TFMR mean?

EKrombel · July 2017

My DR does it automatically due to my age (36). I guess I'd rather know so we can try and be prepared for any situation that may arise (as much as possible).

starla · July 2017

We're doing it and I'm terrified.

MrsJ2410 · July 2017

We are doing it, I am also terrified, but we want to know as much as possible as soon as possible.

soulcupcake · July 2017

@ashhsa - I think she means "reducing/terminating," but it seems ill-placed since it's a term used in the business world.

@SunflowerMama428 - Termination for medical reasons.

TattoosandLace · July 2017

A woman I met while pregnant with DD2 who has become a dear friend of mine changed my thinking about genetic testing. My husband and I never have done the testing in previous pregnancies. Our viewpoint was since we wouldn't terminate there wasn't a point. However, after watching what my friend went thru with her son last year, she has changed my perspective. We will probably be testing in case the baby has something that requires us to deliver at a different facility.

clc515 · July 2017

I'll be 37 when baby comes out, and we plan to do it. It'll give us more time to plan practically, emotionally and financially if results come back that way. So I guess, are you an early planner, or are you good with finding out when you give birth and just make plans then?

As @soulcupcake points out, if you get a screening, it's only a screening and your baby may or may not be that 1 in 100. You'll know if you have higher or lower chances, and be able to plan. If I remember my doc's conversation correctly, and I reserve the right to be incorrect lol please confirm w your doc, the amniocentesis where they collect cells from the fetus/embryonic sac will give you 100% accuracy for some genetic disorders.

madie008 · July 2017

I didn't do it with my last pregnancy because I wanted as little scans as possible, I didn't want to added anxiety, and we already knew we wouldn't want to do an amino to confirm anything they thought they found, or terminate if something was for sure wrong.
I am also very young, was only 23 with DS and 25 now so the midwives told me the chances were very low.
This time I think I'm going to do it the be selfish lol. If I don't do it I won't be able to see the baby until 20 weeks. I want to be sure everything is okay with my sweet baby.

lolapop2005 · July 2017

We will be. We had our first son In our mid twenties and we were totally healthy. He was born with spina bifida. It won't show up in the blood work I'll get around 10 weeks (specifically, but numbers could be wonky, indicating a problem) it would have been horrible if he wasn't diagnosed until birth. We had to deliver by c section because of his hydrocephalus and he was born at a hospital three hours away that was equipped to deal with his needs immediately. We discovered the defect at the anatomy scan. Whether you're going to terminate or not, it makes no sense to me to not be prepared and know what you're getting in to. You're simply giving that baby the best start.

Chawk17 · July 2017

alemarie1 said:

Hello. I'm doing NIPT testing this time around again. The testing isn't 100% but it will give you piece of mind, plus a bonus is finding out baby's gender

Same I want to find the sex at 10 weeks....

Starynightsky24 · July 2017

I won't be. I get being prepared but there is not much these screenings pick up that won't be noticeable at the anatomy scan. For that reason I am just going to wait.

marissajc · July 2017

We didn't with DD and we won't this time either. One of the things I love about my OB office is if you turn down the offer, they won't push the issue. DH has a sister with a rare chromosomal abnormality (it's not genetic though) and if there's anything I've learned from their family, it's that you can adapt to any situation! They had no idea before she was born, and were even told she wouldn't live to her first birthday. She turns 25 this year

soulcupcake · July 2017

Starynightsky24 said:

I won't be. I get being prepared but there is not much these screenings pick up that won't be noticeable at the anatomy scan. For that reason I am just going to wait.

Then what's the point of having diagnostic ultrasound? Isn't "being prepared" or hopefully ruling out anomalies the primary reason for diagnostic ultrasound? And ultrasound doesn't detect everything. There are many factors that contribute to its accuracy. Some anomalies go undetected, but having the screenings gives the provider usable information, especially if it's a screen positive. There are soft and hard markers they can specifically look for and hopefully rule out.

JandJ62914 · July 2017

I'll be having it done. I wasn't given the option last time, but my OB now does it and my insurance covers it. I'm grateful because while it will not change anything, I'd appreciate knowing early and being able to prepare.

madie008 · July 2017

soulcupcake said:

Starynightsky24 said:

I won't be. I get being prepared but there is not much these screenings pick up that won't be noticeable at the anatomy scan. For that reason I am just going to wait.

Then what's the point of having diagnostic ultrasound? Isn't "being prepared" or hopefully ruling out anomalies the primary reason for diagnostic ultrasound? And ultrasound doesn't detect everything. There are many factors that contribute to its accuracy. Some anomalies go undetected, but having the screenings gives the provider usable information, especially if it's a screen positive. There are soft and hard markers they can specifically look for and hopefully rule out.

Ya I agree with soulcupcake. I've always been told the optimal time for the screening is 10-12 weeks. This is when they can see the nuchal translucency the best I believe. But anatomy scan isn't until 19/20 weeks.

noodles15 · July 2017

I will be doing the Harmony test again as long as my office still offers if. I would not terminate but I am a planner. You also find out the sex with Harmony as well.

Ashoes123 · July 2017

FYI ladies, make sure you eat before your blood draws. I went in today for the DNA test and I passed out during the blood draw and woke up on a stretcher with 10 medical workers around me. Everything is OK but that was scary and unpleasant.

Chawk17 · July 2017

Ashoes123 said:

FYI ladies, make sure you eat before your blood draws. I went in today for the DNA test and I passed out during the blood draw and woke up on a stretcher with 10 medical workers around me. Everything is OK but that was scary and unpleasant.

** in box** was it more blood than the betas?

chucksmom15 · July 2017

How many vials? They took 7 from me on Saturday and I was fine but this sounds like a lot!! Are you ok now @Ashoes123???

Chawk17 · July 2017

7 oh my gosh. Thanks for the heads up!

Chawk17 · July 2017

Soooo...I was lurking over at March 18s board and they were discussing this at home DNA kit called Sneak Peak. So I googled it....im a little unclear how this works, you take your blood at home ( um what??!) And then mail it off and they email your sex. Have you guys heard of this?

fishyfishfish234 · July 2017

noodles15 said:

I will be doing the Harmony test again as long as my office still offers if. I would not terminate but I am a planner. You also find out the sex with Harmony as well.

Ditto. I used the Harmony test last time. Cost $130 out of pocket (not through insurance), it was easy and fast. I believe I waited less than a week for results.

madie008 · July 2017

@Chawk17 britneyandbaby on YouTube did that sneak peak thing!! You prick your finger like when you teat your blood sugar and send it to them. If I remember it was wrong for her. Said it was a boy, but the scan said a girl and she had a girl lol.

Ashoes123 · July 2017

@chucksmom15 @Chawk17 I got the Paranoma and it's 2 large vials and 3 or 4 small. I passed out on the second vial though. I had been very nauseous beforehand and hadn't eaten breakfast. Also, when they took my blood pressure earlier it was on the low end for me so I should have said something. Apparently they will let you lay down for the blood draws if you ask.

eggplantface · July 2017

@Chawk17 Yeah my question about that is do they guarantee accuracy? Because if not, people can send me a drop of blood and I'll be happy to tell them if it's a boy or a girl! I'll be right half the time, and rich!

Starynightsky24 · July 2017

soulcupcake said:

Starynightsky24 said:

I won't be. I get being prepared but there is not much these screenings pick up that won't be noticeable at the anatomy scan. For that reason I am just going to wait.

Then what's the point of having diagnostic ultrasound? Isn't "being prepared" or hopefully ruling out anomalies the primary reason for diagnostic ultrasound? And ultrasound doesn't detect everything. There are many factors that contribute to its accuracy. Some anomalies go undetected, but having the screenings gives the provider usable information, especially if it's a screen positive. There are soft and hard markers they can specifically look for and hopefully rule out.

That's why I said much. Of course things can always go wrong or undetected, but for ME it just doesn't make much sense since I am low risk and would never do an amino to confirm anything based off those screens alone.

Not it to mention for me my insurance will not cover those additional screenings since I'm not high risk. I can do the blood work but I just don't feel it necessary given the results are often very vague. I'm much more confident in the anatomy scan.

Of course, I understand why others may want to do it... but it's just not for me at this time.

chucksmom15 · July 2017

Chawk17 said:

7 oh my gosh. Thanks for the heads up!

That was for the initial OB panel (the one that checks for STDs etc), an A1C (bc I'm insulin resistant) and the 1 hour glucose test. Your initial blood draw will probably be less vials.

Chawk17 · July 2017

Oh my. I'm going for first OB on Monday getting nervous about all these blood tests, and everyone's horror ( that's what I call them) stories of first U/S has me freaked out. Not looking forward to Monday at all.

magnolia305 · July 2017

@Chawk17 It will be great! Yes, there will be a blood draw, probably a wait, lots of questions--but the moment you see that little heart fluttering away, your chest will feel like it is going to explode with love (and relief). Remember, people rarely run to the interwebs to share how wonderful everything went! I also have my first OB/US Monday--it is going to be a great day! I look forward to hearing an update from you!

Chawk17 · July 2017

@magnolia305 fingers crossed you have a great first appointment

and thank you. I'll be watching for your update.

chucksmom15 · July 2017

It will be great @Chawk17!!! The paperwork isn't fun but seeing the US and getting reassurance makes all the difference in the world!!

jessilee15 · July 2017

Some arguments against screening:

1) false positives - they are good tests, but false positives happen, and then instead of feeling better, you have unneeded anxiety
2) expense - if you are low risk, it seems like a waste of money

I'm undecided. I'll be 35. I didn't screen with either of my first two because I was low risk. My insurance will not cover the fetal DNA screen for being 35, only the quad screen, which is less accurate and has a higher false positive rate.

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