Older Mothers and prenatal testing

Hi,

I am 40 and we are having our first bub. I went to the OB earlier this week and she told me that DH and I need to start talking about whether or not we want the prenuchal screening test, CVS, or an amnio. Are there any "older" ladies out there that can share their experiences with these tests? I'm pretty sure that we would go ahead with either CVS or amnio, as we believe our risk is greater since we are older and will have to seriously consider what to do from there.
Specifically, does anyone know the statistics of birth defects for a 40 y.o.? I believe it is somewhere around 1 in 100. Also, what are the chances of m/c? I've already had one and obviously don't want to go through that again!
Please do not include "I could never terminate my pregnancy" in your replies. I hope that doesn't sound harsh, but what I'm really looking for are some facts and learning of others experiences. Thanks so much.

Hi

I found a reference table that was published in JAMA in 1983. I am not sure if the figures have been revised since then, but here they are:

Mother age - frequency of DS fetus/non-DS fetus at 16 weeks - frequency of live births with DS/non-DS

35years - 1/250 - 1/75

37years - 1/150 - 1/225

40 years - 1/75 - 1/100

41 years - 1/60 - 1/85

42 years - 1/45 - 1/65

43 years - 1/35 - 1/50

44 years - 1/30 - 1/40

45 years plus - 1/20 - 1/25


1st column =maternal age (i think at birth)
2nd Column = frequency of DS fetus/non-DS fetus at 16 weeks
3rd Column = frequency of live births with DS/non-DS


The first figure is based at 16 weeks of gestation (time of amnio). The difference between the two figures is due to the increased spontaneous abortion with Down Syndrome pregnancies.

Hi,
I had my first bub at 40. I had a m/c at 38 and a troublefree pg at 40. Many people have a miscarriage and yes the stats do go up with age (i think they are around 35 to 40% at 40 ) but try not to think about it as you still have a great chance of having a healthy baby. I have lots of friends that have had babies at 40.
Kate has given you the stats for Down Syndrome which is what the nuchal fold test is for. It is a screening test so not a definitive answer. Depending on the results of the screening tests you could choose to go on to have the CVS or amnio which are definitive tests for DS and some other genetic abnomalities. It is a difficult thing to make a decision about as you really are only theorising on what you would do, until you get a result. I agree a statement like "i would never terminate my pregnancy" is not helpful as no-one really knows what they would do until faced with the situation. all birth defects (including DS) can vary in their severity so stats are not really that useful. for example a 43 year old friend of mine had a baby with a cleft palate. It was very minor and she had 2 operations and lots of followup and support and now at 2 has no ill effects. That would be included in stats but it is nothing that anyone could not deal with.
I will give you my experience. At 40, I was determined to have the amnio and ensure everything was OK. (I have an intellectually disabled brother and was sure I could not handle something similar) So I had the amnio and everything was OK but I did not put any really thought into what I would do if everything was not OK. I was a bit naive about it all.
I have been trying to get pg again since and have a few times but miscarried. the second time around I would be different. we have tried for 5 years to have a baby. there is a fantastic doctor at our ultrasound place that I have 100% faith in. I would have the nuchal fold test and the associated blood tests and if he said they indicated no increased risk for my age then I would not take the risk of the amnio causing a miscarriage (i had a very close friend have an unexplained miscarriage 2 weeks after an amnio). I would not choose to terminate the pregnancy just on amnio result as I have tried for a baby for 5 years and have no chance of having another. DH has a diferent opinion but we will come to a decision if we need to. My opinions have changed due to my experience.
Likewise you are your DH will have your own experiences that will influence your decision and are the only ones that can make your decision in your circumstances and you are doing exactly the right thing doing your research. Hope your pregnancy goes well.

Hi Maria,

The stats are there based on age alone however when you have your 12w scan and blood test they combine these results for your own personal risk. An example is that for my age I have a risk of 1:150 however after my scan and the blood test my personal risk was 1:1800, this meant that based on my age alone I would have been recommended for an amnio (I think if less than 1:300 they recommend) however based on my personal risk there was no recommendation for further tests.

I think you and your DH need to decide what you want to do if you need an amnio or CVS and what you will do based on results from that. However at this stage I don't think you can decide that you will or will not have the amnio ro CVS until you get the results from your 12w scan & bloods.

Hi Maria

If you are pretty certain you will go ahead with a CVS or amnio, to get a definitive answer, do you want to go through with the NT scan and blood tests?

Your risk figure based on age is roughly 1 in 100 (or 1 in 75 by amnio). If the result from NT scan gave you a risk of 1 in 150, would you still want a CVS/amnio? What is the result was 1 in 500 or 1 in 25? Would these results change your decision? Would they make you more anxious if the risk was greater?

It sounds like you guys want a definitive answer through CVS or amnio, and the NT scan might confuse the situation or add unneccessary anxiety where the diagnostic test can give you the answer you are looking for.

CVS or amnio are available to women over the age of 37 without having the NT scan.

Take care,

Kate

Thank you for your information. You both have been really helpful. I will discuss with DH when he returns from his trip and come up with a plan. I really appreciate your support. :hug:

I had the nuchal fold test with my first child at 37 and again with my twins when I was 39. At that point I was only going to have more invasive tests if the U/S had given a high risk result. It didn't and all 3 babies were perfectly normal but sadly my twins were stillborn.
I had a M/C when I was 39 (after the loss of the twins) at 10 weeks Blighted ovuum). Fell pregnant again (still 39) and this time I decided to have an amnio. As I had already made up my mind, my OB said there was no need to have the nuchal scan at 12 weeks, so I didn't. I delivered a healthy baby girl. 9 months later (40) I was pregnant again and again had an amnio. Another healthy baby girl. Fell pregnant again when I was 43. Was going to have an amnio again but unfortunately my baby had died the day before the test due to a cord accident. Autopsy results showed him to be a perfectly normal little boy. My last pregnancy I again had an amnio and deliverd a healthy little boy and girl. I was 45 when they were born.

I had no problems with the amnio. I didn't find the procedure painful and I had no after effects. I just took it easy for a couple of days. I decided to opt for the amnio instead of the CVS due to the lower M/C risk. It is true that at the later stage, if something is wrong and you choose to terminate, labout will be induced. I was prepared for this. I had already delivered my beautiful twin baby girls into the world when they were no longer living. I knew if I could cope with that, I could cope with anything. But it is a personal choice.
I chose to have the invasive tests because I would have terminated if there had been a problem.

I hope this helps you with your decision. I also wish you a healthy and happy pregnancy.

Best wishes
Debbie

Thanks for your story Debbie. Sorry to hear about your losses. You are one strong woman. :hug:

I was 38 when my beautiful, beautiful DD was born.

I had the nuchal fold test and my results came out at a risk of 1/2000 which I was very relieved about so I didn't have a a CVS or amnio because my ob only recommends having an amnio if the risk of Downs from the first test is more than 1 in 250 as the risk of having a miscarriage from the amnio would then be higher than the risk of Downs.

If I'm lucky enough to get pregnant again, I am not sure whether I would terminate because of Downs or not and neither is DP BUT I would want to know so that I could mentally come to terms with it as much as possible beforehand.

That being the case, my plan would be to have the 12 week nuchal fold/blood tests done again and if the risk was higher than 1 in 250-300, then I would have the CVS or amnio. I would not want to go through the rest of the pregnancy, if the results of the 12 week tests were 'bad' worrying about what they might or might not mean. As I said, I have no idea whether I would terminate or not, but I would want to know one way or the other about Downs and the only way to get a conclusive answer is through the CVS/amnio. Actually, I don't know if the CVS is a definitive answer (I need to research that more if and when the time comes) but the amnio definitely does.

Good luck - it can feel so overwhelming at times but you will find your way through it.

I will be 41 when my baby is born in January. I had one miscarriage last year, but still opted for the CVS. I know I could not handle a disabled child and I wanted a definite answer. At 40, the risk from the CVS was about the same or lower than the risk of having a baby with chromosomal abnormalities. It is not just Down syndrome, other trisomies (like trisomy 13 or 18) are more severe and can kill the baby in the womb or very shortly after birth. The risk for having a baby with Down syndrome is 1 in a 100 for a 40 year old woman, but the risk for having a baby with ANY chromosomal abnormality is much higher, about 1 in 70.

The statistics for the miscarriage that you see for the test are usually old. The numbers are from when they did the test without the ultrasound guidance. Now the ultrasound is used, so the procedure is even safer. It also depends on the doctor too, how experience they are doing the procedure.

I am very happy that I had CVS. It gave me peace of mind, I could start bonding with the pregnancy. Up until this point I did not even want to think of myself as pregnant, in case something was wrong. I wanted the test as soon as possible, the CVS is done between week 10 and 13. The procedure was quick and pretty much painless, I did not have any problems at all, not a drop of blood (I had some unexplained pretty heavy bleeding at 6 weeks, so I was fully expecting something). The full results take up to 2 weeks, but they can give you some preliminary results already on the next day.

Good luck with whatever you decide.

I gave birth to a baby boy 1 month after my 42nd birthday. No trisomies or birth defects were evident. It took me 14 years from the moment I decided to have a child to actually having one (only 2 years from first starting TTC with DF though) so my decisions regarding testing were not undertaken lightly.

I had the NT testing. I got a result of 1/37 for DS (age risk 45) & 1/1620 for trisomy 18 (age risk 1/115). NT measurement was 4.2 so not good. Amnio was strongly suggested. CVS was not given to me as an option. I had the amnio. It did not hurt. I had no cramping. I only took one day off work. I could easily have gone back to work, but the recommendation of course is to rest for 24 hours.

I had already had 3 miscarriages but I read up on the procedure and found that the real risk is very low if your doctor is experienced in performing them.

The wait for the results was absolute torture. The 24 hour wait for the early FISH results seemed to take forever. No abnormalities were detected. I would recommend paying the extra money for the quick results as it does put your mind at ease somewhat. We also found out on that day that we were expecting a boy. The FISH results are thought to be 100% accurate but you still have to wait for the final results that can take 2 weeks to arrive. It was a huge relief when they came in and they matched the early results.

Like someone already mentioned the risk factors are based on old information. A study done recently on DS births in New York State found that paternal age needs to be taken into account when calculating the risk for DS for women over 35. The study found that women over 35 who had partners 24 or under (my DF & I fit into this category) had half the risk of DS births to those women 35 and above who had partners over 40. For some reason paternal age doesn't seem to matter in pregnancies for women under 35.

The study also found that women of 35-39 only had a moderate rise in risk compared to women 30-35 but the dramatic rise in risk was due to the age of the partners. It suggested that more research needs to be done on paternal age and birth defects.

The weeks between the NT scan & the amnio were really difficult. I handled it by deciding to announce my pregnancy anyway. I thought that if my pregnancy needed to be terminated then I needed to celebrate it now with friends & work mates (family already knew). This helped fill in the weeks between the scan and the amnio results. We bought one nuetral outfit for bubs after the scan (to try and lift our spirits) and as soon as the FISH results were in we bought a blue outfit. Once the final results were in we started to really feel confident about things and started buying everything we needed.

Best of luck with the testing process.