Newly pregnant - advice on prenatal tests/cord banking?

[Alenzia]

Just recently got pregnant and now I'm completely overwhelmed with the information out there! I've started looking into the possible testing during pregnancy - CVS, amnio, genetic screening, fetal nuchal translucency. What prenatal testing have you found has been helpful for you? Is it really useful to do both CVS and amnio or is it an either/or situation?

In a similar vein, have people found cord banking useful? I'm trying to figure out if it's worth including in our budget.

Thank you in advance for the advice!

[cacaoheart]

Congrats :-)

My wife is currently ~7.5 weeks pregnant and I've likewise looked into different testing options. For CVS/amnio, if you're 29 as your profile says they may mostly be worthwhile if you have a strong family history for something it would detect. When you go to your first prenatal appointment they can help you decide based on your individual situation. We don't plan on CVS or amnio. She is 29 and I'm 31. We were each screened for ~100 recessive genetic disorders prior to pregnancy so that we'd have an idea of what to look out for, and thankfully no new concerns resulted.

As for cord blood banking, since we have no family history to be concerned about, I'm thinking it may be worthwhile to donate to a public cord blood bank. Such donation is free for us, and it will either help another child, go towards research, or may still be available if we ever actually need it.

[GizmoTX]

What could help your decision is to decide in advance if an abnormal test result would make any difference -- if not, don't do the test. All testing, especially amnio, has risks of its own. FWIW, we did amnio, due to my being 45.

[seattlecyclone]

We donated cord blood instead of banking it. Seems like the odds of needing it are pretty small compared to the cost of storing it, and hopefully if we did actually need it there would be a suitable donated match at the blood center.

[woopwoop]

You can do a blood screening first before the CVS/amnio - if the screen shows you are low risk, then it's probably unnecessary to do the CVS/amnio since there are possible complications involved with both those tests. I opted not to do them after the screening showed I was low risk.

Cord blood banking doesn't have a lot of science behind it UNLESS you have a first child or spouse who has a disorder that would benefit from cord blood transplants, and there aren't many of those. In which case many cord blood banks will do it for you for free. Why? Because nobody uses their cord blood (seriously, last time I checked it was like 1/2700 for the public banks, and the private banks won't give out their figures) and so they need people who are actually going to use the cord blood for their advertising. In general, private CBB is a waste of time and money and they rely on utterly deceptive advertising and fear-mongering.

Apart from that, in order to bank the cord blood, it will be harder for your medical providers to do delayed cord clamping, which actually has LOADS of medical studies that show immediate benefits to the baby. Research delayed cord clamping and then decide on whether to bank or not. I'm not going to do CBB, but if I were, it would be to donate to a public bank.

[naners]

I also did the blood test (cell free fetal DNA) which indicated low risk, so I didn't do CVS/amnio. Be aware that since you're under 35 you may have to pay out of pocket for it, and I've heard stories about the tests costing ~2k depending on how much your insurance covers. We didn't have to pay that much OOP, but would have very willingly for early peace of mind. The DNA test gives you results around 15 weeks if I recall.

And don't worry about being overwhelmed, your provider will explain everything! I also recommend the Mayo Clinic Guide to a Healthy Pregnancy. For me it provides just the right level of information without being patronizing or alarmist.

[justajane]

What could help your decision is to decide in advance if an abnormal test result would make any difference -- if not, don't do the test. All testing, especially amnio, has risks of its own. FWIW, we did amnio, due to my being 45.

Bingo. I realized it wouldn't alter my decision, especially in the case of Down's. I figured enough abnormalities would be seen on later USs to give me enough mental time to prepare for a disabled child.

I think the blood tests early in pregnancy (12 weeks right?) are a good option if you feel you want to know earlier. They also tell you the sex of the baby if that matters to you. I personally would do that over the tests you have mentioned with higher risks. If the blood tests show abnormalities, then do an amnio.

But at 29, you are pretty low risk. I didn't even do the tests at 35.

But this is an intensely personal decision. Go with your gut.

I think cord banking is not worth the cost, but I did donate the cord blood for free for all three of my kids. In my mind, the benefits to others outweighed the benefit for my own newborn. I'm happy with my decision.

[MrsDinero]

I'm pregnant with my 3rd child and less than 1 month from turning 40.  These last 2 pregnancies Idid almost every test available to me.  I did not take the CVS or amnio.  I first took the Harmony test and based decisions based on those results. 

As far as cord blood banking.  We did a delayed cord cutting (6 minutes) which for us was more important than banking the cord blood.  We did a lot of reading into cord blood banking.  The actual use of your own cord blood is very very small versus the cost of banking it.  If you want to do something with it, then I would suggest donating it. 

The best thing you can you do for you and your baby is eat heathly, exercise, and rest when you need to rest. 

[meerkat]

If at the time of birth you want to do delayed cord clamping, there may or may not be enough blood left to do banking/donation. (The idea behind delayed cord clamping is to get a extra bit of blood into your baby that would be going there anyway except for the cord being clamped, and when they're that small I figure every little bit helps.)

My doctor said in our case she didn't see anything that would indicate a need for testing so we didn't do any. The only "extra" we did was one ultrasound around ... ten weeks? I know it was before the 12 week mark. Anyway, the reason we did that was one night I went to pee and there was a bloody clot. Cue me and my husband freaking out and calling the doctor's office the minute they opened in the morning and going in for the ultrasound - everything was fine. Whew! Thankfully we were able to get an answer quickly, but if you have any concerns about anything whatsoever, ask your doctor. If you aren't crazy about your doctor and don't feel that they're taking your concerns seriously, you can switch to someone else. Don't feel like you're locked in with one doctor or practice! I know someone who switched when she was practically in her third trimester and her only regret was not switching sooner.

[justajane]

If you aren't crazy about your doctor and don't feel that they're taking your concerns seriously, you can switch to someone else. Don't feel like you're locked in with one doctor or practice! I know someone who switched when she was practically in her third trimester and her only regret was not switching sooner.

Yes, don't hesitate to switch. I switched....um....three times in my first pregnancy. It makes me sound like a crazy person but I had valid reasons each time. The first switch was because my GYN didn't deliver babies anymore, so that was a given to switch when I got the positive pregnancy test. She referred me to a high risk practice she had used with her twins. Big mistake. I wasn't high risk and their approach wasn't right. So after one appointment I switched to another women-only practice that a friend recommended. I never actually saw my assigned OB for four months (Um, okay), after which I received a letter that she was also retiring from delivering babies and that I, along with all of her hundreds of other patients would be transferred to the other OBs in the practice. Um, no, overloaded practice equals bad service. Plus, ironically, a women's only practice didn't allow birth plans or basically any input from actual female patients about how they wanted the delivery to unfold. I didn't realize that was important to me until my second trimester.

So I switched to a guy who was very pro-natural birth. He was fine and a great doctor technically. Terrible bedside manner, though. He also didn't tell me that he was going to be out of town when I showed up for a stress test at 41 weeks. Called when my water broke to find out I would be delivered by a stranger on call. Ruh roh. But the silver lining is that the stranger on call is the best OB-GYN ever. I switched immediately when I found out I was pregnant with my second and have been happy ever since, going on eight years now. He's so great. It's worth "shopping around" for the best fit and to find a doctor who you really feel like hears you, even if it means you have to switch mid-pregnancy.

[I'm a red panda]

What could help your decision is to decide in advance if an abnormal test result would make any difference -- if not, don't do the test. All testing, especially amnio, has risks of its own. FWIW, we did amnio, due to my being 45.

It's sometimes difficult to know if an abnormal test result will alter your decision ahead of time.  I think most people don't realize just how bad abnormal can be until they are in the situation where they get the result... most people only think in terms of the best case scenario, even of abnormal...


Either way though, most women won't even have the option of invasive prenatal testing unless there is cause to warrant it.  You generally can't just walk in and ask for a CVS if there is no cause for it. Insurance won't cover it, and due to the risk, most OBs won't perform it "just because".
 (My first pregnancy had a highly abnormal genetic condition that was not found until late, all early screening and ultrasounds missed it and I had no evidence that suggested I needed more testing, so it was not found until very late.  With my second pregnancy, we are skipping all early screening and just going straight for the CVS. Still, CVS does not show neural tube defects, so if ultrasound later warrants it an amnio might still be necessary.)

[I'm a red panda]

In a similar vein, have people found cord banking useful? I'm trying to figure out if it's worth including in our budget.

I have not had a live birth, but I'd recommend donating to a public cord blood bank, rather than paying for private banking. Unless you have a condition that likely warrants it, I think cord blood banking only preys on fears of pregnant women.  If it became normal to do public banking, the cord blood would be available to anyone who needs it.

There is growing evidence that you can bank blood and have delayed clamping as well.  Delayed clamping has significant benefits.

[meerkat]

There is growing evidence that you can bank blood and have delayed clamping as well.  Delayed clamping has significant benefits.

I should clarify that we still asked to have the cord blood banked even though we did delayed clamping. I think we had just barely enough for it to qualify but I don't really remember. But walking into the hospital to deliver I thought the cord blood donation was a given so it was a bit of a surprise.

[Alenzia]

Thank you so much for the responses! It's calming to hear that I don't need to buy into all the options for testing, especially since every additional test beyond basic blood testing carries risk.

I think we'll skip the private cord banking - we don't have anything in the family that makes me think we'll need it. I'm glad I'm not the only one who was suspicious of all the fear-based advertising.

[Daleth]

What could help your decision is to decide in advance if an abnormal test result would make any difference -- if not, don't do the test. All testing, especially amnio, has risks of its own. FWIW, we did amnio, due to my being 45.

I agree. These days nobody needs to do amnio--in other words no one needs to take the risk of miscarriage--because you can do a blood test on the mother's blood that isolates fetal DNA in it and tells you whether the baby is chromosomally normal or not. The test I did was called MaterniT21 but I think there's at least one other such test.

At 29, though, your insurance probably wouldn't cover it (or amnio) without a family history. That said, I seem to recall that MaterniT21 had some deal where if your insurance wouldn't cover it they would reduce the price pretty substantially, from like $700 to something like a quarter of that if I'm remembering correctly. Obviously, if you wouldn't carry a genetically abnormal baby to term, such a test is well worth the cost, and the fact it poses no risk at all to the baby is a huge advantage over amnio.

[MrsDinero]

Thank you so much for the responses! It's calming to hear that I don't need to buy into all the options for testing, especially since every additional test beyond basic blood testing carries risk.

Don't be afraid to ask questions to your doctor too and challenge their answers if there is something bothering you.  It is important for you to feel comfortable with them. 

My first child was delivered by a doctor who took the approach "I'm the expert,you just lay there and push when I tell you to push".  I was very young and didn't know that I could ask questions.  With my 2 later children (20 years later) I asked a LOT of questions, because I wanted to be as informed as possible.  I love my OB doctors now.  They provided the care and delivery of my last child and will for this next one. They will answer any question I have, I never feel rushed out of the office, and I know I can call at anytime. 

Also don't be afraid to switch doctors if you feel you are not getting what you need.  Remember these doctors are going to be with you when you feel most vulnerable (during labor) so you should be able to trust them.

[Captain FIRE]

What could help your decision is to decide in advance if an abnormal test result would make any difference -- if not, don't do the test. All testing, especially amnio, has risks of its own. FWIW, we did amnio, due to my being 45.

It's sometimes difficult to know if an abnormal test result will alter your decision ahead of time.  I think most people don't realize just how bad abnormal can be until they are in the situation where they get the result... most people only think in terms of the best case scenario, even of abnormal...

Also, most people focus on Trisomy 21 (Down Syndrome) without realizing that trisomy 13 and 18 are much worse with a very low survival rate.

• For 13, more than 80% of children with trisomy 13 die in the first year.
• For 18, about half of babies who are carried full-term are stillborn (many more are miscarried, even later in pregnancy).  Of those babies who do survive, less than 10% live to reach their first birthday.

I did Materniti21 (blood test) and a battery of others common in the Ashkenazi Jewish population (as my husband is half Jewish) to see if I was a carrier.  As I'm over 35, the first was covered.  At my OB/GYN, if you are under 35, they don't offer that more accurate test to you, but do offer a test through an early ultrasound, but coverage varies by insurance company.

[I'm a red panda]

I agree. These days nobody needs to do amnio--in other words no one needs to take the risk of miscarriage--because you can do a blood test on the mother's blood that isolates fetal DNA in it and tells you whether the baby is chromosomally normal or not. The test I did was called MaterniT21 but I think there's at least one other such test.

MaterniT21 is a screening, not a diagnostic test. Even the maker, Sequenom recommends an amnio or CVS is done to confirm a positive result on this screening. 

The test also doesn't tell you if the baby is chromosomally normal or not; MaterniT21 looks only at the 21st chromosome. Problems on other chromosomes may still exist. You likely had the MaterniT21 Plus (that's most common now) but even it does not screen all chromosomes. It looks at  Trisomy 13, 18, 21, and sex-related chromosomes.  It would not detect any other trisomy or monosomy, or deletions, mosaicsims, or translocations.   There is a genome wide screen (MaterniT Genome) that Sequenom offers that looks at all chromosomes, but only for deletions larger than 7 megabases (except for a few select chromosomes) so most smaller deletions would be missed.  All these things can be seen with a microarray done from an invasive test such as a CVS or amnio.



To say nobody needs to do an amnio is just not true  (for example- terminating due to a positive result on a screening would be highly irresponsible, assuming you would otherwise want to keep the pregnancy). 


The non-invasive prenatal testing also does not test for neural tube defects (a CVS can also not do this)- an amnio would be needed for that. For most women, these tests are not necessary. But "nobody" is an extreme overstatement.

[I'm a red panda]

Also, most people focus on Trisomy 21 (Down Syndrome) without realizing that trisomy 13 and 18 are much worse with a very low survival rate.

• For 13, more than 80% of children with trisomy 13 die in the first year.
• For 18, about half of babies who are carried full-term are stillborn (many more are miscarried, even later in pregnancy).  Of those babies who do survive, less than 10% live to reach their first birthday.

And there are 20 other chromosomes that things can happen on too.
No one likes to hear their baby will die choking to death during a seizure if their kidneys or heart don't fail first.

Thankfully, not too many parents have to hear those things.

[justajane]

What could help your decision is to decide in advance if an abnormal test result would make any difference -- if not, don't do the test. All testing, especially amnio, has risks of its own. FWIW, we did amnio, due to my being 45.

It's sometimes difficult to know if an abnormal test result will alter your decision ahead of time.  I think most people don't realize just how bad abnormal can be until they are in the situation where they get the result... most people only think in terms of the best case scenario, even of abnormal...

Also, most people focus on Trisomy 21 (Down Syndrome) without realizing that trisomy 13 and 18 are much worse with a very low survival rate.

• For 13, more than 80% of children with trisomy 13 die in the first year.
• For 18, about half of babies who are carried full-term are stillborn (many more are miscarried, even later in pregnancy).  Of those babies who do survive, less than 10% live to reach their first birthday.

I did Materniti21 (blood test) and a battery of others common in the Ashkenazi Jewish population (as my husband is half Jewish) to see if I was a carrier.  As I'm over 35, the first was covered.  At my OB/GYN, if you are under 35, they don't offer that more accurate test to you, but do offer a test through an early ultrasound, but coverage varies by insurance company.

This is true. I just knew I wouldn't terminate even in the case of the more serious Trisomies, which is why I didn't opt for the Materiti21 test, even though I was AMA.

Now if I were of Ashkenazic Jewish decent, I would have done the tests you mention.

My husband is a carrier of a rare but fatal disease like Tay-Sachs, even though he has no known Jewish ancestry. His aunt died of it as a child and his cousin has it currently. If we are both carriers, there's a one in four chance that our kids will have it just like Tay-Sachs and Gaucher. But there's no way to test for it, as there are hundreds of strains. We could test to see if I have the strain my husband has, but even if I don't, I could have one of the other ones. It's the sad genetic lottery of life.

Two years ago my husband had concerns about our middle child. Our son's eye movements reminded him of his cousin with the disease, and since it was the age of usual onset, we were terrified. I was lucky that I was a graduate of a local university that has a leading world expert on this disease. I was surprised to reach him instead of his secretary on the phone. The short story is that he took our family under his wing and did some experimental blood test he has been developing in his lab and ran it on our son for free. The only other way to know for sure is an invasive skin culture that we didn't want to do. Anyway, the blood test came back normal, but of course it's never certain. He could still have it, but for now, we are not worried. 

Genetic diseases are terrifying and often latent, just waiting to wreak havoc. 

[Captain FIRE]

Note also that testing is not just for making a decision regarding termination.  Other reasons to get tested are that the medical professionals can be immediately prepared for a baby with serious medical conditions on arrival and have the right people/equipment in the room, and that you know to deliver in a hospital with this support and not at home.  It may also be possible to repair certain issues in utero (or so TV tells me - I'm not sure whether this is done much in real life).  You may get different/more extensive prenatal care.

[MrsDinero]

Note also that testing is not just for making a decision regarding termination.  Other reasons to get tested are that the medical professionals can be immediately prepared for a baby with serious medical conditions on arrival and have the right people/equipment in the room

So true.  My second baby was born with a mild heart defect (nothing life threatening or requiring surgery).  With the baby I'm currently expecting, we went in for a fetal echocardiogram and testing so see if this baby would have a heart problem.  We would not have terminated, but I would have had to deliver at a different hospital with different equipment had this baby shown signs of a defect.   Being prepared counts for a lot.

[I'm a red panda]

Note also that testing is not just for making a decision regarding termination.  Other reasons to get tested are that the medical professionals can be immediately prepared for a baby with serious medical conditions on arrival and have the right people/equipment in the room, and that you know to deliver in a hospital with this support and not at home.  It may also be possible to repair certain issues in utero (or so TV tells me - I'm not sure whether this is done much in real life).  You may get different/more extensive prenatal care.

+1  !!!!

I had to change hospitals and OBs when my results came back. The hospital I had planned to deliver at was not set up to handle the condition my son had, having only a level II NICU.  I instead went to a hospital with a level III NICU and to a high risk OBGYN clinic.


The prenatal care became much more extensive. I had to schedule appointments with every specialist who would treat my son in the first 3-6 months of his life, so that we could be prepared for what would happen within those clinics.  I also went from having monthly appointments to weekly ultrasounds to monitor his condition.  We also scheduled to meet with a care team, and scheduled to have a seminar with all the doctors from all the specialties together to determine exactly how to handle each of the issues my son would have, and to schedule timing of the various surgeries that would be needed and the critical need of each of them and how they could be coordinated with the other specialties.  It's one thing if your child needs kidney surgery (though it's still helpful to know ahead of time, and not wait for him to crash after birth!), but when they need heart surgery, kidney surgery, urinary tract surgery, facial reconstruction, and a few more things- it becomes a giant puzzle. Being able to do it before birth saves vital time to help the child.

My son was not born alive, so I didn't have all those appointments I had made, but knowing what you face before birth greatly improves outcomes. Although many of the issues showed up on ultrasound, it was only the amnio that let the doctors put the full story together.

[justajane]

Note also that testing is not just for making a decision regarding termination.  Other reasons to get tested are that the medical professionals can be immediately prepared for a baby with serious medical conditions on arrival and have the right people/equipment in the room, and that you know to deliver in a hospital with this support and not at home.  It may also be possible to repair certain issues in utero (or so TV tells me - I'm not sure whether this is done much in real life).  You may get different/more extensive prenatal care.

I don't claim to be an expert on this issue, but can't many of these issues be detected on later ultrasounds that would give you enough time to prepare medically and emotionally? I recall the US tech and the OB mentioning things like organ development, head measurements, spinal measurements, etc.

I just assumed that one of the main reasons to screen for it earlier and then do an amnio to confirm was so that you could terminate early in the pregnancy.

[I'm a red panda]

I don't claim to be an expert on this issue, but can't many of these issues be detected on later ultrasounds that would give you enough time to prepare medically and emotionally? I recall the US tech and the OB mentioning things like organ development, head measurements, spinal measurements, etc.

I just assumed that one of the main reasons to screen for it earlier and then do an amnio to confirm was so that you could terminate early in the pregnancy.

I mentioned many of the issues my son had in a previous post.  None of these were seen on ultrasound at 20 or 25 weeks at the hospital I had originally got my care at.  They were discovered when I was referred to a high risk due to a cleft lip that was seen at 25 weeks- that was ALL we thought we were facing.

The clinic I went to was not a backwaters clinic, it was a highly respected hospital. It had good equipment. I had 3D ultrasounds, I had the nuchal fold tests, I had a quad screen.  None of it was seen until 26 weeks, an ultrasound most women would never  get.

If I hadn't gone for a 25 week growth screen because he was small at 20 weeks, it is possible I would have NEVER known until he passed away.

Many women don't have ultrasounds after their 20 week anatomy scan, or only have one final one very near birth to determine the baby's positioning, so the condition would likely not be known until very close to birth. Which leaves no time to prepare, and the condition only becomes apparent when the baby is born, or even after they go home and the health is failing.  If a known problem is found the close monitoring can also help determine if the baby is no longer doing well in utero and early delivery would help increase the outcome.  This isn't monitored for if the pregnancy is thought to be otherwise healthy.

[justajane]

I don't claim to be an expert on this issue, but can't many of these issues be detected on later ultrasounds that would give you enough time to prepare medically and emotionally? I recall the US tech and the OB mentioning things like organ development, head measurements, spinal measurements, etc.

I just assumed that one of the main reasons to screen for it earlier and then do an amnio to confirm was so that you could terminate early in the pregnancy.

I mentioned many of the issues my son had in a previous post.  None of these were seen on ultrasound at 20 or 25 weeks at the hospital I had originally got my care at.  They were discovered when I was referred to a high risk due to a cleft lip that was seen at 25 weeks- that was ALL we thought we were facing.

The clinic I went to was not a backwaters clinic, it was a highly respected hospital. It had good equipment. I had 3D ultrasounds, I had the nuchal fold tests, I had a quad screen.  None of it was seen until 26 weeks, an ultrasound most women would never  get.

If I hadn't gone for a 25 week growth screen because he was small at 20 weeks, it is possible I would have NEVER known until he passed away.

Many women don't have ultrasounds after their 20 week anatomy scan, or only have one final one very near birth to determine the baby's positioning, so the condition would likely not be known until very close to birth. Which leaves no time to prepare, and the condition only becomes apparent when the baby is born, or even after they go home and the health is failing.  If a known problem is found the close monitoring can also help determine if the baby is no longer doing well in utero and early delivery would help increase the outcome.  This isn't monitored for if the pregnancy is thought to be otherwise healthy.

Thanks for the clarification. I remember your story from other threads. I'm so sorry for you again and really feel for you.

I'm trying to figure out what the solution would be: both in an ideal world in which we get optimum care and in a practical world in which health insurance makes most of the decisions for us.

Would more regular ultrasounds be better or would the early blood test for all pregnant women be preferable? I don't know the answer.

In the case of the OP, she is likely going to have to pay out of pocket for these tests, given her age. If I had known someone IRL who had experienced what you have, I would likely have taken the test for my third pregnancy, which was AMA. But I recall my OB saying the test would be $250 for me, and over 1K if insurance wouldn't pay.  I recall him saying that these new tests are pretty effective at screening, so if it's the best way to screen for some of these problems, I'm all for it. But insurance would have to be on board for it to be tenable for women to do it at higher rates.

[I'm a red panda]

For the OP, I wouldn't recommend any invasive test unless something showed the need for it.  The non-invasive tests are just screenings but they are decent screenings.  But, like you said, insurance doesn't cover the NIPT in a lot of cases either.

I personally would do as much as my insurance would cover.

Certainly I look back and regret that I didn't get invasive testing much much sooner, but there was nothing to indicate I needed it- and the vast majority of pregnancies don't turn out how mine do.  I could have paid out of pocket, and if my insurance doesn't cover it this time, I will. Because NIPT won't give me certain enough answers, for me, this pregancy, it would be a waste of time to bother with the screening.  The CVS carries a 1% risk of miscarriage (actually lower if you have a skilled provider, and there is some question how accurate that is, because it doesn't take into account those who may have miscarried naturally even without the testing)- the chance of recurrence risk of my son's condition is 1% (since we are not genetic carriers). It is a risk I will happily take when I look at the trade-off. 

I also don't post to scare those who haven't gone through this- as they almost certainly won't- pregnancy should be a happy time, and most of them turn out wonderfully. But it's a reality that they don't always; so people who make blanket statements that there is no need for testing just really bother me. My current pregnancy has been nothing like my past one. I'm only 6 weeks, and I've had 3 weeks of nothing but worry already. Just praying I see a heartbeat in 2 weeks at my first appointment, taking this one step at a time.


I will say the experience has greatly changed my mind on limits for termination however. The idea that by 24 weeks you have had "plenty of time to decide" is just horrid to me now. I've met so many women who had just hours to decide when they found out at 23 weeks and 6 days, and of course I had no choice at all in my state. I didn't know anything was wrong before the limit. Why would I have even considered terminating what I thought was a healthy, much wanted pregnancy?

[justajane]

Sending warm thoughts your way, iowajes. I had a very early miscarriage between my second and third and was a nervous wreck waiting for the heartbeat on that eight week ultrasound. Come to think of it, I was a nervous wreck the whole pregnancy. How much more difficult it must be for you given what you've experienced. I know someone who had a 39 week stillborn. I imagine most of us do. I can only guess how she and other felt during subsequent pregnancies.

Statistically, these things are quite rare but still possible. It's hard to strike the right balance between fear and hope when you are pregnant, at least it was in my experience. 

[MrsDinero]

I also don't post to scare those who haven't gone through this- as they almost certainly won't- pregnancy should be a happy time, and most of them turn out wonderfully. But it's a reality that they don't always; so people who make blanket statements that there is no need for testing just really bother me. My current pregnancy has been nothing like my past one. I'm only 6 weeks, and I've had 3 weeks of nothing but worry already. Just praying I see a heartbeat in 2 weeks at my first appointment, taking this one step at a time.

I am right there with you.  My last 2 pregnancies have been nothing but worry.  I don't talk to people about it because I get a lot "but you're so healthy, you'll be fine" and "just don't think about it" none of which are helpful.  For me the best ways to keep my fears at bay is to make myself as informed as possible, so I do a lot of reading about pregnancy, even now that this is my third, I still read about what is going on.  It helps me calm down.

[Captain FIRE]

I'm trying to figure out what the solution would be: both in an ideal world in which we get optimum care and in a practical world in which health insurance makes most of the decisions for us.

Would more regular ultrasounds be better or would the early blood test for all pregnant women be preferable? I don't know the answer.

I think that's why the insurance companies do things such as consider AMA.  Statistically the risk start rising with age.  If you have a medical history/family background, I would think you also ought to be covered.  Otherwise, your risk is low and if you want testing done, you should pay for it yourself.  It's not perfect, but it seeks to manage costs.

[ShoulderThingThatGoesUp]

We just got the Maternity21 that isn't just 21 (13, 18, sex chromosomes as well) and I think it'll come in under $400 despite my wife not being AMA. False negatives are apparently more likely in twin pregnancies, which makes perfect sense, but it's still way better (and way, way lower false positives) than the sequential screen thing they like to recommend to non-AMA women.

[Daleth]

MaterniT21 is a screening, not a diagnostic test. Even the maker, Sequenom recommends an amnio or CVS is done to confirm a positive result on this screening. 

The test also doesn't tell you if the baby is chromosomally normal or not; MaterniT21 looks only at the 21st chromosome. Problems on other chromosomes may still exist. You likely had the MaterniT21 Plus (that's most common now) but even it does not screen all chromosomes. It looks at  Trisomy 13, 18, 21, and sex-related chromosomes....There is a genome wide screen (MaterniT Genome) that Sequenom offers that looks at all chromosomes, but only for deletions larger than 7 megabases (except for a few select chromosomes) 

They don't make the Down's-only test anymore. "MaterniT21" means MaterniT21 Plus, or the full-genome one. The list of available tests is the row of circles at the bottom of this page:
https://www.sequenom.com/tests/reproductive-health/maternit21-plus/#patient-reproductive-health

Fair enough, though, it doesn't detect everything, and I didn't happen to know that. The recommendation to confirm a positive result with amnio still spares the overwhelming majority of women the risks of amnio, since most women won't have a positive result on MaterniT21 testing. That recommendation IMHO is more CYA than anything else; "do another genetic test to confirm this genetic test, so that you can't blame us."

[cacaoheart]

After talking with my wife yesterday, we plan on having a noninvasive cell-free DNA screening similar to MaterniT21 Plus (informaSeq with XY analysis). Even though we're low risk, we like data, have thought about how we would respond to such data, and with her employer the test is free.

If we get a concerning result that would prompt us to move on to CVS or amnio, but otherwise we won't be doing anything invasive. The false positive rate, while low, is higher for screening tests than for invasive diagnostic tests.

[little_brown_dog]

Most providers now discourage cvs/amnios and other intensive tests unless you are at increased risk for problems. I had a cnm and only ever received ultrasounds, no testing whatsoever. I liked the very low intervention route but my pregnancy was also very healthy and I had no known risk factors for genetic abnormalities, or environmental exposures and related defects. MaterniT21 was not covered for me due to lack of risk factors, butI would have asked for it if it had been covered. I wasnt about to pay extra out of paranoia so we had to skip it.

[Kaydedid]

Our son has spina bifida.  It was caught on the big 20 - week anatomy scan because he had an associated skull issue (Chiari malformation) too.

Sometimes they do fetal surgery to repair the opening in the back.  It's truly a medical miracle, to open up a woman's uterus, perform surgery on the baby, sew things back up, and let the baby grow inside for several more months.  However, it needs to happen before 24 weeks or so.  We didn't have this surgery, but there was a lot of extra monitoring of his skull and spine, and he was induced with a neurosurgery already scheduled.  Knowing beforehand was huge.

That being said, spina bifida is rare (1 in 1000 births).  I believe the quad screen tests for the most severe  (and common) form, but the blood tests don't.  Worth it if you have a family history of neural tube defects, probably not otherwise.

Sent from my SCH-I545 using Tapatalk

[Metric Mouse]

Most providers now discourage cvs/amnios and other intensive tests unless you are at increased risk for problems. I had a cnm and only ever received ultrasounds, no testing whatsoever. I liked the very low intervention route but my pregnancy was also very healthy and I had no known risk factors for genetic abnormalities, or environmental exposures and related defects. MaterniT21 was not covered for me due to lack of risk factors, butI would have asked for it if it had been covered. I wasnt about to pay extra out of paranoia so we had to skip it.

This.  There didn't seem to be any reason to test, and with the high rate of false positives etc. etc. XS and I felt it wasn't worth it to potentially worry. May update on issues; guess we'll find out in a week or so if it's healthy.

[pirate_wench]

I highly recommend getting the cell-free fetal DNA test. It's relatively new. You can get it after 10 weeks, and it is 99% accurate for testing for downs syndrome and other chromosomal issues.  Plus since it tests the dna, you can learn the sex that early. We chose to not find out, so that meant we had to have our provider read the results to us sans sex instead of reading the report ourselves.  It is a simple blood draw, amazing.  Traditionally offered only to "advanced maternal age" patients, but at least one company was trying to make it standardized for all pregnant women, so were offering it to women of all ages at our hospital for only $100 in an attempt to gain a wider audience...I don't know where or how far reaching that program was, but you might get it pretty affordably even if you are too young for insurance to cover it. Anyways, it's the earliest, most accurate, least invasive option out there right now, and even if I hadn't been an older mom, I would have paid for it out of pocket, full price. All the best to you.

[brycedoula]

When I was pregnant @ 31, the only screening test available to me (in my province, due to my age & lack of family history) was the "quad screen", or MSS blood test. It screened for the trisomies, as well as neural tube defects including spina bifida. I would have only been offered an amnio if my results came back with a high probability of an issue. In case you're wondering my results were as follows:

Open spina bifida - 1 out of 27,300
Neural tube defect - 1 out of 374
Down Syndrome - 1 out of 7,910
DS by maternal age  - 1 out of 772
Trisomy 18 - 1 out of 99,000

This test is most accurate between 15-18 weeks, and less accurate if the woman is overweight or obese. So keep that in mind, and make sure to ask your provider when the best time to take the test is (depending on what's available to you).

My husband & I, while healthy ourselves, have cardiac issues on both sides (murmurs on my side, arrhythmia on his). So we mentioned this to the sonographer before my 20-week anatomy scan.

[Venturing]

From memory you can't do delayed cord clamping if you want to cord bank, that ruled out banking for me.

[meerkat]

From memory you can't do delayed cord clamping if you want to cord bank, that ruled out banking for me.

It was put the opposite way to me - I could do delayed cord clamping but it meant there was a high likelyhood that there wouldn't be enough blood left in the cord to be bankable [edit for clarification: bankable meaning donated]. My nurses said they'd try, I have absolutely no recollection on if they were successful.

[smella]

TBH the science behind private cord banking doesn't indicate that banked blood is going to be useful in any significant way.
It's absolutely a marketing scam in my huuuumble opinion.
Think about it- if your kid has a genetic disorder, their stem cells are probably affected.  Stem cells from a different, healthy person could potentially be useful, but not their own.

Donating cord blood to a public bank is a great option, and much more likely to be useful!


As for prenatal testing--- I got the nuchal translucency screening done because it was presented to me by my OB as something "everyone does."  In retrospect I thought it was a waste of time and money for me and I'll skip it next time around. To be fair to my OB practice, they do cater to a mostly older clientele. Plus, it's Brooklyn, and there are high occurrences of genetic abnormalities in the Orthodox Jewish communities here.

[little_brown_dog]

TBH the science behind private cord banking doesn't indicate that banked blood is going to be useful in any significant way.
It's absolutely a marketing scam in my huuuumble opinion.
Think about it- if your kid has a genetic disorder, their stem cells are probably affected.  Stem cells from a different, healthy person could potentially be useful, but not their own.

Donating cord blood to a public bank is a great option, and much more likely to be useful!


As for prenatal testing--- I got the nuchal translucency screening done because it was presented to me by my OB as something "everyone does."  In retrospect I thought it was a waste of time and money for me and I'll skip it next time around. To be fair to my OB practice, they do cater to a mostly older clientele. Plus, it's Brooklyn, and there are high occurrences of genetic abnormalities in the Orthodox Jewish communities here.

We looked into cord blood banking but ultimately decided against it. Private banking isn't inherently a scam, in that, under the right circumstances it can be extremely valuable and possibly even life saving. But the stars have to align pretty perfectly for that to happen. The child or a very close blood relative has to come down with one of the very specific conditions that cord cells can be used for. They have to get that condition within a timeframe that is most compatible with cell viability, and the cells have to be in good condition. Ultimately, there are alot of conditions that have to be met for private banking to provide a useful product for a family, so the odds aren't really in your favor that you will happen to be one of the rare families that meet all of the following:

1. Child or sibling gets extremely ill with a rare condition requiring cell treatment
2. The condition happens to be one of the few that is known to respond well to treatment
3. Cells are in good condition and in sufficient amounts for appropriate treatment regimens

Basically, I think it comes down to how much money you have and how big of a sacrifice it is for you to bank on something so rare. If I was a millionair I would probably do it and view it as an extra type of fancy pants insurance. But most of us have to trade off our blood banking money with college savings, retirement savings, debt repayment, etc. For normal people, your money is most likely better off spent on other things for your family because the odds of you falling into that weird scenario where you meet all criteria for cord blood cell therapy are extremely small.

[flashpacker]

I switched OBs at 30 weeks because of an unavoidable insurance change.  So pleased I got forced into it as I should've switched after the first visit with the initial guy. I did the cell free DNA test and it was covered by insurance due to being 35.  I actually switched from an OB to a midwife who did hospital deliveries, rather than to another OB.  Some of the most helpful advice I got was to pick the hospital you want to deliver at first, then pick an OB who delivers at that hospital, rather than the other way around.  We were going on hospital tours when I was only 6 weeks pregnant, which made us look strange but I didn't care.

[esq]

What could help your decision is to decide in advance if an abnormal test result would make any difference -- if not, don't do the test. All testing, especially amnio, has risks of its own. FWIW, we did amnio, due to my being 45.

Bingo. I realized it wouldn't alter my decision, especially in the case of Down's. I figured enough abnormalities would be seen on later USs to give me enough mental time to prepare for a disabled child.

I think the blood tests early in pregnancy (12 weeks right?) are a good option if you feel you want to know earlier. They also tell you the sex of the baby if that matters to you. I personally would do that over the tests you have mentioned with higher risks. If the blood tests show abnormalities, then do an amnio.

But at 29, you are pretty low risk. I didn't even do the tests at 35.

Same.  At 37 and again at 41, I knew it wouldn't make a difference. 

[Cognitive Miser]

I've been over 35 for both my pregnancies, so I had insurance coverage for genetic testing.  My SO and I are also both technical people, and we like data.  We don't like surprises.
I had CVS the first time around and cell-free fetal DNA the second time.  We wanted certainty (or, as much certainty as possible).
CVS and Amnio are the only two that are considered diagnostic, so they are the only two tests that should be used if you are considering termination.  You should have time to do cffDNA before CVS if you want to do a screening first and then follow up with a diagnostic (that was our plan the second time).  CVS and amnio look for more abnormalities than the screening tests are designed for.  CVS and amnio have different windows and those windows do not overlap (CVS is earlier than amnio).  Specific windows differ by provider, but they are usually specified out to the DAY (like, 11 w 2 days).

CVS was painful, expensive (even with the insurance coverage we had), and carries a risk of miscarriage.  My doctor didn't get enough material on the first draw, so she tried two or three times.  They can do a FISH test for fast results (2-3 days), but we didn't have enough material to get FISH results, so we had to wait the full 2 weeks for the cells to multiply in a petri dish for the full-spectrum results.  I didn't really want to go that way again, and in the intervening years the cffDNA tests got more accurate and faster.

There are at least four providers of cffDNA tests, and not all of them are created equal.  But all of them share a common feature:  They are less accurate the younger you are - the predictive value literally depends on your age, and uses your age in the calculation.  Which is why insurance does not often cover them for women under 35.  Since they are screening tests, the way it works is that if you get a "negative" result, you are pretty much in the clear.  There is more accuracy in the calculation of an "unlikely/negative" result than in a "likely/positive" result.  If you get a "likely" result and you need more certainty before you make any decisions, you should ABSOLUTELY follow up with a diagnostic test, depending on how far along you are in your pregnancy.  What's surprising is that many doctors do not know this.  Any test you have *should* include a consult with a genetic counselor, but some providers do not offer this, which is a HUGE shame.  Making good decisions requires education and understanding.

Here's a really excellent website about cffDNA tests.  It's what convinced me to get cffDNA and be confident in the results.
http://www.downsyndromeprenataltesting.com/what-exactly-is-maternit21-harmony-verifi-panorama-testing/
Really technical discussions of the accuracy of results:
http://www.downsyndromeprenataltesting.com/noninvasive-prenatal-testing-for-down-syndrome-99-malpractice/
http://www.downsyndromeprenataltesting.com/what-does-your-cell-free-dna-screen-result-for-down-syndrome-mean/
The author is biased against the idea that it is OK to have genetic screening tests just to find out whether someone should terminate for Down's Syndrome, but his science is solid.

That said, there can still be something wrong with the kiddo.  At our 20 week ultrasound for this current pregnancy, our perinatologist thought there might be a hole in our baby's heart.  A subsequent fetal echo ruled that out, but it's just not possible to test for everything.

Private cord banking:  I'd say skip it.  Public bank donation: good if your clamping decision does not prohibit it.

And: iowajes, your story is heartbreaking.  Thank you for sharing and for pointing out that this information can be incredibly valuable beyond making a termination decision.

[Cognitive Miser]

Oh wow.  I just found this website about cfDNA/NIPT testing, and it is awesome.  You can plug your age into a calculator and see whether the predictive value of the test is worth paying for.

The Definitions and Resources tabs have tons of good info.  I did all these calculations by hand to get myself comfortable with the test, but the calculator is the way to go!
You can get Sensitivity and Specificity for your chosen test either from your provider or sometimes from the test-provider's website.  Harmony didn't have their "accuracies" on the website at the time, but my genetic counselor did.  Or you can use the calculator's default values, which are pretty representative of the tests out there in the marketplace.

https://www.perinatalquality.org/Vendors/NSGC/NIPT/

[GexTheLizard]

Nurse practitioner here (and mom of one 15 month old), though my specialty is NOT obstetrics so take any advice with a grain of salt.

I was 24 when I had our pumpkin.  My experience with our OB was...poor.  They were great about offering us everything, and outright terrible about explaining anything, so we weren't sure exactly what was expected or standard with regards to testing.  We started out low-risk and ended up on the modest side of high-risk due to some risk factors (pregnancy-induced hypertension, hyperemesis...stuff that doesn't necessarily impact baby's health).

For us, the bottom line was we were low-risk as I was under 35, first timer with no previous complications and no family history of genetic disorders.  If you're low-risk, or your risk primarily extends to you, I wouldn't and didn't bother with any of the optional testing.  They do certain screenings as part of the standard of care which will detect the majority of fetal defects.  As with anything in medicine, there is no test that will tell you anything 100% for sure and there is a risk to be had with any test.  Unless there's a medical reason, I personally would avoid amniocentesis because it's a more invasive test.  Some of the testing relies on ultrasound and maternal blood (I don't remember which is which anymore because again, OB is not my area of expertise).  My understanding is that a false positive is far more common than a true positive with many of the optional testing options, so also take that into account.

For us, the low-risk nature of the pregnancy versus the risks associated with the tests and the anxiety that would have occurred with false positive testing was enough for us to say no.  I personally feel most of the optional testing is excessive and unnecessary for most people who otherwise have a low risk profile, and I'm not sure OBs (or medical providers in general) always do a good job of explaining the potential benefits versus the risks in a way that most laypeople understand.  It's a personal decision for sure, but do remember that all medical intervention of any kind carries some degree of risk.

[NghtSkyyStarz]

I'm in my second pregnancy, nearing the end of my first trimester. The first time I did all the testing and everything they told me to, and we still had surprises when the baby was born. I won't be doing any of the additional testing this time, and am currently fighting my providers on making me do more than one diabetes test. Last time after doing my research we chose to donate our child's cord blood. For us it just wasn't worth the cost and the likelihood of never needing it.

[Cognitive Miser]

So I was talking to the hospital last week about cord blood banking - my question was "If we delay clamping, can we still donate to the public bank?"

Can you imagine what the reply was?!?!  "The public bank has been full for a year, so you delay clamping as long as you want!  Unless you want to do a private bank."

WOW!  Lots of very generous people out there.  The lady even said they had looked for another public bank to do business with, but they are starting to fill up around the US and couldn't find any banks taking on new hospitals.

[Kitsune]

Note also that testing is not just for making a decision regarding termination.  Other reasons to get tested are that the medical professionals can be immediately prepared for a baby with serious medical conditions on arrival and have the right people/equipment in the room

So true.  My second baby was born with a mild heart defect (nothing life threatening or requiring surgery).  With the baby I'm currently expecting, we went in for a fetal echocardiogram and testing so see if this baby would have a heart problem.  We would not have terminated, but I would have had to deliver at a different hospital with different equipment had this baby shown signs of a defect.   Being prepared counts for a lot.

I was actually talking about prenatal testing with a friend of mine who is an obstetrician - she STRONGLY advises prenatal testing for ALL pregnancies (12-week ultrasound + 2 blood tests, all of which are covered by public health in Quebec, so free to the expecting parents), regardless of what you'd do with the results, for 3 reasons:
1) In case of severe abnormalities, you can get an abortion up to 20-odd weeks here. If that's something you'd consider, you need the information.
2) If there IS something wrong with the baby, prenatal testing lets the hospital know which specialists they need to have on hand to ensure the best possible outcome for the baby.
3) If the baby DOES have Down's, it let's you prepare your family/friends so that they can STFU the first time they see the baby. No one wants their mother to see their grandchild for the first time and say something along the lines of "Oh, you have to deal with THAT" or "oh, I'm sorry". You want them to get over themselves, see your baby, and say "what a beautiful baby, congratulations". Depending on the sensitivity of the people involved, that sometimes requires the advanced prep.