{"id":125211,"date":"2025-10-16T06:06:10","date_gmt":"2025-10-16T06:06:10","guid":{"rendered":"https:\/\/www.europesays.com\/ie\/125211\/"},"modified":"2025-10-16T06:06:10","modified_gmt":"2025-10-16T06:06:10","slug":"how-a-new-genetic-test-is-transforming-a-generation-of-moms","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ie\/125211\/","title":{"rendered":"How A New Genetic Test Is Transforming A Generation Of Moms"},"content":{"rendered":"

W<\/strong>hen it came <\/strong>time to start a family, Sarah Elizabeth Orlando, 33, knew she would go about it differently. Before she was born, an in-utero amniocentesis had confirmed she carried the gene for fragile X syndrome (FXS), one of the most common causes of inherited intellectual disability. That knowledge\u2014paired with a history of family members with special needs\u2014made the path clear when she was ready to get pregnant: in-vitro fertilization with preimplantation genetic testing (PGT), which allows embryos to be tested for genetic disorders. \u201cI knew I didn\u2019t want that for myself or my children,\u201d says Orlando, who understands what providing care for someone with special needs looks like.<\/p>\n

After one round of IVF, she ended up with 10 embryos, three of which did not carry the genetic mutation. Three were viable and healthy enough to be used, and one\u2014which ultimately became her son\u2014was deemed \u201ceuploid,\u201d or genetically \u201cnormal.\u201d <\/p>\n

Although she knew that selecting an FXS mutation\u2013free embryo would not ensure that her child had zero health issues, it gave Orlando peace of mind knowing that he wouldn\u2019t have this specific genetic disorder. \u201cAnd hopefully, generations to come won\u2019t be impacted either, because we made this decision,\u201d she says. \u201cSo it\u2019s a stressful situation, but in the long term, for our family lineage, it\u2019s for the best.\u201d<\/p>\n

Genetic testing or screening\u2014which can be done before or during pregnancy and uses a blood, saliva, or skin cell sample to determine if you\u2019re a likely carrier for various genetic abnormalities and mutations your child could inherit\u2014isn\u2019t new. But in the past decade, ob-gyns and fertility experts have seen a huge uptick in the number of people seeking it out, says Taraneh Nazem, MD, an ob-gyn, reproductive endocrinologist, and infertility specialist at RMA of New York<\/a> and an assistant clinical professor at the Icahn School of Medicine at Mount Sinai. <\/p>\n

This kind of testing has become almost a standard checkpoint on one\u2019s journey to parenthood. Aspiring parents are heading to the lab to give their sample, selecting which panel they want, and then two to three weeks later, they receive the results. Stats on exactly how many people are testing are hard to come by, but analysis from Grand View Research<\/a> shows that the global market for carrier screening tests was valued at almost $1.2 billion in 2022 and is expected to grow 12.4 percent from 2023 to 2030. <\/p>\n

\"solIllustration by Sol Cotti<\/p>\n

New technology and more affordable testing options are changing the genetic testing landscape. <\/p>\n

Companies that offer carrier screenings confirm a steady rise over the past few years: Labcorp tells Women\u2019s Health that carrier testing volume grew more than 10 percent each year from 2020 to 2024. And approximately 55 percent of its carrier screening tests are conducted for one to three of the most common genetic disorders\u2014fragile X, spinal muscular atrophy, and cystic fibrosis\u2014while about 45 percent are ordered by providers to test for 14 or more genes. Another big testing company that WH spoke with says its stats suggest that carrier screening is performed during pregnancy in roughly 40 percent of U.S. births now.<\/p>\n

Why the boom? It\u2019s being fueled, in part, by new technology and more affordable, accessible testing options. Carrier testing used to be quite complex and expensive, so it was reserved mostly for people at high risk of passing on a genetic condition based on their family history or ethnic background. But advances in gene-sequencing technology and greater investments in biotech have allowed laboratories like Labcorp, Natera, Myriad Genetics, and Quest to bring these tests to the masses. The tests have also gotten more efficient. While it used to be that you could test for only one gene at a time, it\u2019s now possible to check for hundreds of genetic mutations with a single blood draw or cheek swab. Some labs boast<\/a> that their most comprehensive panels can perform over 500 genetic screenings. As these companies market their tests more broadly, women like Orlando can now choose to do a deep dive into their DNA and learn how it might impact a future or current pregnancy.<\/p>\n

There are certainly upsides: Namely, more information means more knowledge and power during the family-planning process. Testing before you become pregnant, as Orlando did, may guide you to IVF and PGT. Some folks may also opt for egg or sperm donation, adoption, or simply remaining child-free. And while testing after you become pregnant doesn\u2019t offer as many options, it still allows you to prepare for a child\u2019s potential disease treatment ahead of time, or for some, a conversation about whether to continue the pregnancy.<\/p>\n

Thankfully, awareness of rare, inherited conditions and treatment options have also increased<\/a>. In the past, knowing you were a carrier might have only caused angst. Now you can often take action, deciding if and when to start medical treatment for the affected child. Spinal muscular atrophy, for one, can\u2019t be cured, but there are now a handful of treatments<\/a> that can significantly improve a person\u2019s quality of life\u2014and starting earlier can significantly slow disease progression. <\/p>\n

\"aTesting Through the Ages<\/strong><\/p>\n

In the 1970s, <\/strong>one of the first genetic carrier screening programs started in the Ashkenazi Jewish community to determine if intended husbands and wives were carriers of Tay-Sachs, a fatal neurological condition that destroys cells in the brain and spinal cord. It\u2019s estimated that 1 out of 29 Jewish people<\/a> in the U.S. are carriers, compared with about 1 in 250 people in the general population. Before becoming engaged, couples would get their blood tested to find out if they were carriers, \u201cand based on that, the rabbi told you if you were a match or not,\u201d says Kristin Paulyson Nu\u00f1ez<\/a>, a certified genetic counselor at Duke Health. (The condition is autosomal recessive, which means both parents need to be carriers for a child to inherit the disease; if one parent is a carrier, it could make the child a carrier, though.) To this day, many Jewish couples still get genetic carrier testing before marriage to make sure they aren\u2019t both carriers. <\/p>\n

In addition to Ashkenazi Jews (who are also at higher risk for Gaucher disease and Canavan disease), other ethnicities with known elevated odds of having certain genetic conditions\u2014like beta thalassemia, a blood disorder that causes anemia, especially in Mediterranean populations\u2014were the primary focus of early carrier tests. The list was short because experts didn\u2019t know as much about which genetic mutations caused which diseases, and tests to pinpoint specific mutations didn\u2019t exist the way they do today. <\/p>\n

\n

\u201cHopefully, generations to come won\u2019t be impacted [by the condition], because we made this decision.\u201d \u2014Sarah Elizabeth Orlando<\/p><\/blockquote>\n<\/blockquote>\n

But over the years, tests for more conditions became available. In 1989, researchers identified the gene associated with cystic fibrosis<\/a>, one of the most common<\/a> life-
shortening genetic diseases in the U.S., and soon a test for it became the first widely available single-condition carrier screening for parents-to-be. By the late 1990s, experts began recommending that doctors offer the test to anyone hoping to conceive. In 2001, it became a routine part of obstetric care, per the American College of Obstetricians and Gynecologists<\/a>.<\/p>\n

The Human Genome Project, launched in 1990 and completed in 2003, also moved the needle. Scientists had successfully sequenced the entire human genome, which made expanded carrier screening<\/a> (the ability to test for multiple conditions at once) possible\u2014and the testing process more efficient.<\/p>\n

Plus, as our world becomes more global, so do our gene pools. \u201cThere are more people marrying outside of their ethnic background and religious faith, so only offering carrier testing to certain populations and only testing for certain conditions in that population is not appropriate any longer because we\u2019re all such a mixture of different things,\u201d says Paulyson Nu\u00f1ez. <\/p>\n

A perfect example: These days, the majority of babies born with Tay-Sachs<\/a> are not of Jewish descent, according to research published in the Journal of Clinical Medicine\u2014proof of both the efficacy of screening programs and how varied and mixed people\u2019s genetics are now.<\/p>\n

Medical advocacy has pushed the practice along too: Organizations dedicated to raising awareness of specific diseases have promoted carrier screening as an important way to catch these things as early as possible. And societies like the American College of Obstetricians and Gynecologists and the American College of Medical Genetics and Genomics recommend that those at highest risk for certain genetic conditions be tested for them. All of these factors, Paulyson Nu\u00f1ez says, have contributed to the ubiquity of carrier screening. <\/p>\n

In 2025, if you walk into your ob-gyn\u2019s office for a prenatal visit, your doctor may be ready with a pamphlet about genetic testing and adamant that patients take advantage of the information before conceiving. <\/p>\n

Heather Beall<\/a>, MD, an ob-gyn at Northwestern Medicine Regional Medical Group, calls herself a \u201cbig screener\u201d and highly encourages her patients to do a carrier screening before getting pregnant. It can help you get a full picture of the diseases you may pass down to your children, she says.<\/p>\n

This type of proactive testing is still not the norm, though. Dr. Beall estimates that only around 10 percent of patients do it before getting pregnant. And a couple is more likely to do so if they already know that a disease runs in the family. The reality is, learning your carrier status sometimes doesn\u2019t feel urgent until you get a positive pregnancy test. But experts emphasize that you generally have more choices if you test before conceiving, especially in our current reproductive climate. (If you are pregnant with a fetus that has a genetic abnormality incompatible with life and you live in a state with strict abortion laws, your options are limited.) <\/p>\n

\"abstractAn Imperfect Science<\/strong><\/p>\n

Though innovation in<\/strong> carrier testing has surged since the early days, that doesn\u2019t mean more testing is always better, Paulyson Nu\u00f1ez says. When you opt for the largest carrier panel, you\u2019re almost guaranteed that it\u2019ll come back with some sort of mutation. Why? Human cells constantly change over time<\/a>, both randomly and as a result of environmental factors. In fact, it\u2019s safe to assume you\u2019re a carrier for anywhere between 6 and 12 genetic conditions, per Paulyson Nu\u00f1ez. Yes, some may cause rare and serious diseases if you pass them on, but others may be no big deal. On the flip side, \u201cwhen carrier results are negative, that means there is a reduced risk to be a carrier,\u201d Paulyson Nu\u00f1ez explains; it doesn\u2019t necessarily mean zero risk. <\/p>\n

Plus, the results we\u2019re talking about are not black-and-white. Being a carrier doesn\u2019t mean your future children will absolutely inherit a genetic disease or disorder. Different conditions have different patterns of inheritance. Some, like cystic fibrosis and Tay-Sachs, require that both parents be carriers for the condition to be passed on\u2014but even then, the probability that a child inherits it may not be 100 percent or even 50 percent. Others, like hemophilia and fragile X syndrome, are more contingent on the mother\u2019s genetics (they\u2019re known as X-linked dominant or X-linked recessive conditions, but in the case of fragile X, it can present on a spectrum). \u201cUnderstanding those risks is essential, especially if you\u2019re going to make significant decisions about family planning,\u201d Paulyson Nu\u00f1ez says. <\/p>\n

\"pregnantIllustration by Sol Cotti<\/p>\n

New technology and more affordable testing options are changing the genetic testing landscape. <\/p>\n

And while carrier screenings can be quite comprehensive, the truth is that they don\u2019t test for every single genetic condition. Courtney Del Boccio, 35, learned this the hard way.<\/p>\n

After successfully giving birth to a daughter, Del Boccio struggled to get pregnant again. So, in search of answers, she underwent extensive testing, including a carrier screening panel, to see if an underlying health issue might be at play. The panel came back positive\u2014she was a carrier for one condition. But after her husband was tested, her doctors were confident that it wasn\u2019t an issue.<\/p>\n

When their son was born, the Del Boccios immediately noticed his white hair, which was in stark contrast to his older sister\u2019s dark brown tresses. \u201c\u2009\u2018I\u2019ve only seen this a handful of times,\u2019\u2009\u201d Del Boccio recalls the nurse telling her. \u201cThat stuck with me.\u201d Del Boccio had bright blonde hair as a child, so she brushed away her worries at first. But when her son was roughly 3 weeks old, she noticed he was making irregular eye movements. <\/p>\n

As an occupational therapist<\/a>, she\u2019d heard of this condition: nystagmus. \u201cI really tried to chalk it up to him just lulling himself to sleep, but I knew in my heart that something was wrong,\u201d she says. She started to wonder if something had slipped through the cracks in the genetic testing.<\/p>\n

When she began Googling, she found a strong link between those eye movements and albinism\u2014which would also explain his white hair and very light skin coloring. But albinism wasn\u2019t on her radar; it wasn\u2019t a condition screened for in her genetic test.<\/p>\n

\"aDifficult Decisions<\/strong><\/p>\n

Once the test <\/strong>results are in, your family-building journey may only just be starting. (All of the experts WH spoke with stressed the importance of meeting with a genetic counselor to discuss your results and calculate your risk from there.)<\/p>\n

Around 60 percent of folks getting carrier screenings took some sort of action in response to their results, research shows<\/a>. One study<\/a> in the journal Genetics in Medicine found that 59 percent of people chose to pursue IVF with PGT, while 20 percent opted to move forward and get additional diagnostic testing during pregnancy, 7.7 percent chose to use a donor egg, and 5.1 percent were considering adoption. Researchers note, though, that the study is slim and not ethnically diverse.<\/p>\n

There are already so many factors to consider and worry about during pregnancy that being able to make informed decisions about your future child\u2019s health can help reduce anxiety, says Alice Domar<\/a>, PhD, chief compassion officer at Inception Fertility. \u201cIt\u2019s a gift,\u201d she adds. \u201cIt\u2019s incredible what we can do these days.\u201d<\/p>\n

Even knowing her carrier status, Orlando understood that she could still try to conceive without intervention, get an amniocentesis during pregnancy to learn whether the fetus had FXS or not, and then decide whether to continue the pregnancy. But that option was overwhelmingly stressful for her. \u201cI think we would\u2019ve chosen to terminate if the fetus was impacted, and I just didn\u2019t want to have to put myself through that decision,\u201d she says. <\/p>\n

\n

\u201cIf I did have kids, then found out about this, and that I\u2019d passed it on, I\u2019d have felt awful.\u201d\u2014Reddit User<\/p><\/blockquote>\n<\/blockquote>\n

Orlando is grateful that IVF was an option for her, to ease her anxieties and avoid a difficult situation. \u201cWe were lucky enough to have the privilege of being financially capable to do IVF, even though it\u2019s so expensive. And if we ever want to do it again, I don\u2019t know how we\u2019re going to afford it,\u201d she says. <\/p>\n

There are plenty of others who either can\u2019t or won\u2019t have a child if there\u2019s a risk they might pass on a disease. A quick Google search reveals endless Internet forums discussing the decision to forgo children\u2014folks who know that a problematic gene runs in their family, or who have had relatives with health conditions they don\u2019t want to pass on, or who are wondering if they should have a second child. The thought of exorbitant IVF expenses and extensive testing can be daunting. <\/p>\n

One Reddit user<\/a> says she decided to get tested both to make sure she wouldn\u2019t pass down a disease to a future child and to help her and her partner determine whether to have kids in the first place. She tested positive for an X-linked disorder that causes kidney failure. But the result showed she wasn\u2019t just a carrier\u2014she actually had the disease herself. \u201cI cannot stop crying,\u201d she writes. \u201cThe 50 percent chance is too high for my partner and I to tolerate. I feel like I am grieving the loss of my fertility, and I feel like a broken woman. That was not really a result I expected from genetic testing.\u201d<\/p>\n

Another user<\/a> shares that after learning she had a genetic condition that increases her risk for colorectal cancer, she decided she didn\u2019t want to take the chance of passing on the gene. \u201cI\u2019m making sure this dies with me,\u201d she writes, noting that if she did ever want biological children, she\u2019d need to do IVF and PGT and that it\u2019s \u201cvery, very unlikely\u201d she will be swayed from the path she\u2019s chosen. \u201cI\u2019m just so pleased I didn\u2019t change my mind and have children when I was younger,\u201d she says, \u201cbecause if I did have kids, then found out about this, and that I\u2019d passed it on, I\u2019d have felt awful.\u201d<\/p>\n

Which test is best? <\/strong><\/p>\n

If you\u2019re feeling overwhelmed by the options, you may choose to screen for just two big genetic disorders, spinal muscular atrophy and cystic fibrosis, which the American College of Obstetricians and Gynecologists recommends<\/a> for anyone considering getting pregnant or who is already pregnant. (Screening for hemoglobinopathies\u2014diseases that affect how the body produces hemoglobin, a critical protein in the blood\u2014is also among its recommendations, but this is done via a routine test during pregnancy called a complete blood count.) <\/p>\n

And while the organization supports additional tests for people of certain ethnic backgrounds or with specific family histories, it doesn\u2019t advise choosing the biggest panel<\/a> simply because it\u2019s available. The goal is to be able to identify carriers for more common conditions while minimizing unnecessary additional testing and the anxiety that can come from positive results for very rare disorders.<\/p>\n

\"abstractBalancing the Mental Load <\/strong><\/p>\n

It\u2019s true: <\/strong>The more you test, the more you find\u2026and the more there is to worry about. If Orlando or Del Boccio were starting a family in a different era, many of these testing-related concerns would be nonexistent (or at least different). But the fretting and stresses would take on other forms. <\/p>\n

Still, the mental gymnastics that carrier tests now often prompt can present a whole new consideration for aspiring parents. One that comes without a guidebook. For instance, a lot of people pursue carrier screening as a sort of reassurance that their kid will have a perfect bill of health, but that\u2019s not realistic. \u201cStep back from the actual decision of doing carrier screening and just ask yourself, \u2018Why am I doing this? What do I hope to get out of it? And what am I going to do with that information?\u2019\u200a\u201d Paulyson Nu\u00f1ez says. (This will help you decide on the size of the panel to get and make it easier to manage your expectations.) <\/p>\n

Disappointing results, on one hand, can send you into a tailspin of anxiety. \u201cIf you think you\u2019re healthy and you go for genetic testing or test an embryo and something comes up you didn\u2019t know was in the family, it can be really disturbing,\u201d says Domar. But the reality is that it\u2019s normal and expected that at least one thing will show up. \u201cPatients who come up as carriers for really obscure things, even though they are healthy and it doesn\u2019t affect their health, they completely obsess about it.\u201d On the other hand, all-clear results can give you a false sense of security (as they did for Del Boccio). <\/p>\n

That\u2019s where genetic counselors come in: They can help put results in real-life context. There\u2019s also no harm in asking for a referral to a genetic counselor while you\u2019re still deciding if screening is even right for you. A lot of the companies that offer tests also provide genetic counseling services and may be able to go into detail about carrier screening and how to make the decision. (The National Society of Genetic Counselors<\/a> can help you find a professional near you.) Also, you can tap your ob-gyn here: Dr. Beall stresses the importance of making an appointment while you\u2019re thinking about trying to conceive. The doctor can answer questions and help ensure you\u2019re doing what you can to support a healthy pregnancy, like taking folic acid. This is also an ideal time to ask about, yes, carrier screening. <\/p>\n

How much does this cost? <\/strong><\/p>\n

The price of a carrier screening test can vary quite a lot depending on the testing company, your health insurance, and the test or panel you choose, but it\u2019ll often cost a couple hundred dollars. <\/p>\n

And while the tests have become more affordable, many insurance companies still don\u2019t cover them unless there is a known family history or true medical need, per Dr. Nazem. Companies may offer self-pay options if your insurance denies coverage, though. <\/p>\n

\"aTrusting the Process<\/strong><\/p>\n

After Del Boccio\u2019s <\/strong>son was officially diagnosed with albinism, she and her husband were retested for the gene, and they learned that any future children had a 25 percent chance of inheriting the same condition. \u201cI had some processing to do,\u201d she says. <\/p>\n

Even though she originally wanted three or four kids, she thought to herself, I guess we won\u2019t have any more. For one, she had a lot of anxiety about being in a fertility clinic after having undergone six cycles of intrauterine insemination in trying to get pregnant with her son. And she was also uncertain about what a life with albinism would mean for him. \u201cI didn\u2019t know what his life would look like, and I also had a 3\u00bd-year-old to think about. So we decided that we wouldn\u2019t have any more babies.\u201d <\/p>\n

But that outlook changed after Del Boccio\u2019s son turned 1. \u201cI realized he was totally fine and met a whole community of wonderful people,\u201d she says. The couple decided to take their chances and try for another\u2014without intervention.<\/p>\n

\u201cWe could have done some testing or done IVF to make sure the third baby didn\u2019t inherit albinism, but I knew it wasn\u2019t something to be so scared of,\u201d Del Boccio says. Instead, after she conceived, they decided to wait until birth to find out the sex and whether the baby had albinism.<\/p>\n

Del Boccio\u2019s baby girl arrived in October 2024, and just like her big brother, she had albinism. \u201cWhen she came out with white hair, I was bawling my eyes out,\u201d Del Boccio says. \u201cI had this crazy feeling that she just knew what we needed. My first daughter always wanted a sister, and my son also now won\u2019t feel alone.\u201d<\/p>\n

Looking ahead, Del Boccio says that albinism doesn\u2019t affect their family-planning decisions. \u201cI\u2019m in a very different place from where I was with my son,\u201d she says. \u201cHe can do anything a normal 2-year-old boy can do. Now I have a lot of peace. I\u2019m not afraid anymore.\u201d<\/p>\n

\"Headshot<\/p>\n

Amy is a freelance writer and editor who covers health, fitness, outdoors, and travel. She is an ACE-certified personal trainer and a PRONatal pre\/postnatal performance training specialist. Her work has been published in Cosmo, Women’s Health, Men’s Health, Runner’s World, Self, Livestrong, and more. Outside of work, you can find her hiking, cooking a new recipe she found on Pinterest, working on DIY home renovations, or tending to her beloved houseplants.<\/p>\n","protected":false},"excerpt":{"rendered":"When it came time to start a family, Sarah Elizabeth Orlando, 33, knew she would go about it…\n","protected":false},"author":2,"featured_media":125212,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[272],"tags":[48764,75888,13195,18,458,346,19,17,590,133,75887],"class_list":{"0":"post-125211","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-content-type-apple-news-issue","9":"tag-contentid-7f9034ea-77fb-4c68-b092-dfcb1ae1ad16","10":"tag-displaytype-long-form-article","11":"tag-eire","12":"tag-genetics","13":"tag-hasproduct-true","14":"tag-ie","15":"tag-ireland","16":"tag-locale-us","17":"tag-science","18":"tag-shorttitle-how-a-boom-in-genetic-screening-is-changing-families"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/125211","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=125211"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/125211\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/125212"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=125211"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=125211"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=125211"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}