Advanced Maternal Age – What’s the Big Deal?

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Pregnancy is typically a very exciting time for a woman. You take a pregnancy test, the little plus sign appears, and the initial wave of excitement (and nerves) washes over you. Immediately, you start to think about all of the events ahead:  going to the doctor, having ultrasounds, hearing the heartbeat, getting pictures to share with family and friends, finding out the sex of your child, getting the nursery ready, stocking up on diapers, and, 9 long months from that initial positive test result, bringing home a new member of the family.

However, for women 35 or older, this doesn’t always play out exactly as planned. You go to the doctor, but instead of just smiling and congratulating you, the doctor looks down at your chart, sees your age, and says you are now considered a high-risk pregnancy. You are of advanced maternal age, or as most refer to it, “AMA.” You weren’t expecting that, huh? How should you take this new development? Your doctor is clearly making sure you are taken care of as you should be, but did they just call you old? Was that an insult? ADVANCED Maternal Age? I’m not old, right?

Now, full disclosure, I am a male genetic counselor under the age of 30, so I haven’t experienced this personally, but working in prenatal genetics for my entire career, this is a scenario I have seen play out in a patient’s head hundreds of times. As such, I’m here to shed some light on this subject. So, Advanced Maternal Age: What IS the big deal?

First off, no, you’re not old. Don’t worry about it. In fact, with that pregnancy glow, you’ve never looked better (I assume). Secondly, you will be managed as high-risk now, but in general that is a good thing. That means closer monitoring and more chances to keep tabs on your health and the baby’s health. What does this mean for you? A couple more blood tests than before and a couple more ultrasounds. And, in the event something that warrants further investigation does come up, you will be referred to a specialist, such as a Maternal-Fetal Medicine (MFM) specialist who is basically an OB/GYN with further training in specifically handling high-risk pregnancies. Additionally, (and this is where I come in) you’ll likely be referred to a genetic counselor. So the bottom line is, you’ll be in good hands. Also, a magical thing happens when you’re pregnant and AMA: you suddenly can get a doctor’s appointment no problem!

So why all this special treatment? Older pregnant women in general have a higher risk for pregnancy complications, both for your own health and the baby’s health. Examples would be higher risk of miscarriage, preterm labor, and maternal health complications like preeclampsia or deep vein thrombosis (DVT). Beyond this, there are greater genetic risks with increasing maternal age. With these genetic risks, we are specifically talking about chromosome abnormalities such as Down syndrome. Chromosome abnormalities are typically sporadic and therefore not inherited. Chromosome abnormalities as a whole occur when the fetus has an extra or missing chromosome in some or all of its cells. These conditions are associated with an increased risk of miscarriage as well as intellectual disability and birth defects.

All women, regardless of age, have a risk for a fetal chromosome abnormality. However, this risk increases with advancing maternal age.  As an example, the risk for a 30 year old to have a child with a chromosome abnormality is 1 in 380 (0.26%). The risk at age 35 is 1 in 180 (0.5%) and at age 40, this risk is 1 in 60 (1.67%). Therefore, overall, the odds are still very much in a woman’s favor even as she ages to have a healthy child, but regardless this risk still exists and needs to be assessed during the course of every pregnancy. All women, regardless of age, have the options of screening and diagnostic testing for fetal chromosome abnormalities. Patients often find that the results of a routine screening test, such as first trimester screening or non-invasive prenatal screening (NIPS) help guide them about deciding for or against invasive, diagnostic testing options, such as an amniocentesis.

At this point, a question you might have is, what makes 35 the magic age that qualifies me to be a member of the Advanced Maternal Age club? There is a two-part answer to this question. First, after age 35 and beyond, the risk for fetal chromosome abnormalities increases at a larger rate per year than before. From age 20 to 35, a woman’s risk is less than 0.5%. From 35 to 38, the risk jumps from 0.5% to 1%. Therefore, as risk increases, so should prenatal care. The second part of the answer has to do with invasive, diagnostic testing options. Chorionic Villus Sampling (CVS) and amniocentesis are diagnostic procedures because we are getting an actual sample of the baby’s DNA for analysis, and thus we can get yes or no answers, instead of risk estimates based on screening tests. However, because we are obtaining a sample of the baby’s DNA, these procedures are also invasive, which poses a risk of miscarriage to the pregnancy. The national quotes for risk of miscarriage from a CVS is approximately 1% and the risk of miscarriage from an amniocentesis is approximately 0.5%

Now wait….0.5%? Doesn’t that number sound familiar? Oh, that’s right! It’s your age-related risk for fetal chromosome abnormalities at the age of 35! So, at 35, the risk of having a pregnancy affected with a chromosome abnormality and the risk of miscarriage from an amniocentesis which would rule out these conditions are equal. This is why 35 is that magical age! Although all screening and testing options are available to any women of any age during pregnancy, at 35 and beyond, guidelines suggest that it would be beneficial for all patients to have an in-depth conversation regarding all of their screening and testing options for fetal chromosome abnormalities, as well as their age-related risk, so they can make an informed decision regarding what screening or testing they would like to pursue for these conditions.

This is where I come in as a genetic counselor. I am the one you have this detailed conversation with. And, at just about this point during my spiel is where you see all the pieces click together in a patient’s mind and suddenly being AMA is no longer the concern or enigma it was when their doctor first uttered those words. Nothing beats seeing that sigh of relief happen in real time. I sure do hope that some of the people reading this will also experience that sigh of relief, even though I won’t be able to experience it first hand.

I hope I have been able to help de-mystify the mystery that many women find AMA to be. If you want to have a consultation with a genetic counselor to discuss your risks as well as your screening and testing options, ask your doctor. Otherwise, here’s to having a healthy and happy baby!

 

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About Author

Nicholas Paolino

Nicholas Paolino is a board-certified genetic counselor at Recombine. In addition to providing genetic counseling services to Recombine’s patients, Nicholas is also responsible for overseeing the quality control and internal operations of Recombine’s ChromoMap test, a non-invasive prenatal screening technology. Nicholas has a background in high-risk perinatal and reproductive genetic counseling, previously working at Rutgers Robert Wood Johnson Medical School in the Division of Maternal Fetal Medicine. Nicholas received his B.S. in pre-med biology from the University of Scranton and his M.S. in human genetics and genetic counseling from Sarah Lawrence College. He is a licensed genetic counselor in the states of New Jersey and California.