The Fallacy of Advanced Maternal Age

 Shivani Nazareth

IN 1970, THE MEAN AGE of a first-time mother was 21; this has steadily risen over the past few decades. Women are having more children later in life, in part because of educational pursuits and a decline in teen pregnancies. The vast majority of these women, whether they're 27 or 37 years old, will conceive healthy babies. Maternal age is only one factor in the making of a healthy baby. The American College of Obstetricians and Gynecologists specifically states that all women, regardless of age, should be offered the option of prenatal screening for genetic conditions such as Down syndrome. Still, the perception remains that a "high-risk switch" flips after a woman's 35th birthday.

Both maternal and paternal age play a role in fertility and pregnancy risks, and these risks increase gradually with age, not suddenly. Historically, it made sense to establish a specific age at which the benefits associated with prenatal screening and diagnostic procedures outweighed the risks. Based on a number of factors, maternal age 35 was deemed the appropriate time for women to consider screening for chromosomal changes, such as the extra copy that leads to Down syndrome. While it's true that maternal age contributes to a higher likelihood of conceiving a baby with Down syndrome, it remains a fact that most babies with this condition are born to women of younger ages. Young women of "average risk" are having more babies, and they're not typically offered the level of prenatal scrutiny that women age 35 and older receive.

Of course, women don't have to undergo any prenatal screening at all. The recommendation is to offer women the option, allowing them to make choices consistent with their personal values. The real issue is the assumption that women under the age of 35 don't deserve or require equal access to prenatal screening, specifically cell-free DNA screening, the most accurate blood test available to pregnant women today. Cell-free DNA screening, also known as noninvasive prenatal screening, is a blood test that can be utilized in the first trimester of pregnancy to screen for chromosomal abnormalities. As it turns out, women have small pieces of fetal DNA circulating in their blood during pregnancy. Laboratories have the ability to analyze these fragments of DNA and look for clues about the health of a pregnancy. Combined with an ultrasound, this approach offers a more complete picture of a baby's overall development. It's not 100 percent accurate because by definition, no screening test meets this criterion. That said, it offers the highest detection rate for Down syndrome and other conditions, allowing women to be stratified by risk before considering further testing, such as a confirmatory amniocentesis.

For women who choose prenatal screening, the widespread availability of cell-free DNA screening presents an opportunity for us to shift our thinking around what it means to be "high risk." As a first step, we need to stop thinking about Down syndrome as the only issue women care to learn about during pregnancy. Parents who choose to learn about the chance of having a baby with Down syndrome would arguably choose to learn about additional health-related conditions, some of which are more severe or life-threatening and have nothing to do with age. Having counseled thousands of pregnant women in my own career, I can attest to the universal truth that all parents – age, ethnicity, religious affiliation or socioeconomic background aside – simply desire a healthy outcome. The earlier parents gain this information the better, as it offers the ability to prepare mentally, emotionally and financially, as well as consider treatment options or early intervention. Moreover, we need to dismiss the idea that screening is only relevant for parents who want to abort.

A more holistic approach to pregnancy management includes offering cell-free DNA screening and ultrasound to every woman, regardless of age. Since all pregnant women face about a 3 percent chance of having a baby with a birth defect, the combination of these two screening tools offers the most informed picture of the pregnancy. Many parents think of the ultrasound as a means to finally see the baby, hear the heartbeat and connect to an unborn potential for life. Physicians and midwives are relying on the images to determine whether fetal development is progressing normally. If a woman were denied access to a prenatal ultrasound because of her age, we would consider it absurd.

There is no magical switch that turns on or off once a woman reaches a certain age, yet we seem to hold fast to this concept. All women should be offered the chance to learn about intellectual and developmental delays that can impact the health of an unborn baby, and they should be given access to the most effective tests during pregnancy. When it comes to genetic screening, however, the 35-year-old age cut-off that is based on historical data is still being used to deny women access to advanced screening. In effect, many women are being denied the opportunity to learn about the health of their baby in the first trimester, when it is safer and easier to make pregnancy management decisions, simply because of their age. Additionally, for many pregnant women, age is the deciding factor in whether their insurance will cover certain types of prenatal screening.

In order to ameliorate this health access gap, women should start a conversation with their midwives, genetic counselors or physicians early in their prenatal journey. This allows ample time to make personal decisions about how much information is desired, if any, and it also offers couples the chance to weigh the benefits and limitations of technologies such as cell-free DNA prenatal screening. The current use of age 35 as a proxy for screening is an outdated approach to pregnancy. Groups like the Coalition for Access to Prenatal Screening seek to eliminate the disparity in access to prenatal care by providing scientific evidence to help insurers (both commercial and government plans) expand coverage of non-invasive prenatal screening to all pregnant women, regardless of age, income or risk factors. After all, all women deserve equal access to comprehensive genetic screening.

Shivani Nazareth is Director of Medical Affairs at Counsyl, a DNA testing and genetic counseling service. She worked as a clinical genetic counselor for over ten years in New York City, most recently at Weill Cornell Medical College. Shivani obtained her graduate degree from the Icahn School of Medicine at Mount Sinai and currently serves on the National Society of Genetic Counselors' Public Policy Committee.

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