What to expect when you’re expecting an extra X or Y chromosome
Katie and her husband, Simon, had never heard of XXY, and their obstetrician wasn’t much help either. Also known as Klinefelter syndrome, XXY is a genetic condition that can cause infertility and other health issues; it occurs when a child, typically assigned male at birth, is born with an extra X chromosome in addition to the usual X and Y.
Sex chromosome variations, in which people have a surplus or missing X or Y, are the most common chromosomal conditions, occurring in as many as one in 400 births. Yet the majority of people affected don’t even know they have them. That’s because these conditions can fly under the radar; they’re not life threatening or necessarily even life limiting and don’t often have telltale characteristics that raise red flags. Still, the diagnosis can cause distress.
As more expectant parents opt for noninvasive prenatal testing in hopes of ruling out serious conditions, many of them are surprised to discover instead that their fetus has a far less severe—but far less well-known—condition. Because so many sex chromosome variations have historically gone undiagnosed, many ob-gyns are not familiar with these conditions, leaving families to navigate the unexpected news on their own. Many wind up seeking information from advocacy organizations, genetic counselors, even Instagram as they figure out their next steps.
The information landscape has shifted dramatically since the advent of noninvasive prenatal screening (NIPS) a decade ago. The increasingly popular first-trimester blood tests that debuted in 2011 to detect Down syndrome have, over time, added a broader spectrum of conditions to their panel, including sex chromosome aneuploidies—the medical name for an atypical number of chromosomes.
“The scariest part is here is this diagnosis based on a test that we didn’t really understand.”
In 2020, the American College of Obstetricians and Gynecologists endorsed NIPS at any age, effectively making the blood test a routine part of pregnancy care. Parents typically use these tests to rule out Down syndrome or more severe conditions, only to find out in many cases about something they didn’t even realize their baby was being screened for. “The scariest part is here is this diagnosis based on a test that we didn’t really understand,” says Simon. Adds Katie: “We were assuming the test would detect only very serious things.”
To add to the complexity, NIPS is not as reliable for sex chromosome aneuploidies as it is for Down syndrome, underscoring the importance of confirming a positive screening result during pregnancy via amniocentesis or chorionic villus sampling (which examines placental tissue), or with a blood sample after the baby is born. Yet data suggests that “some women have elected to terminate pregnancies solely on the basis of [noninvasive prenatal screening] results, potentially aborting unaffected fetuses,” according to a 2016 article in Prenatal Diagnosis.
About 40% of men with XXY are diagnosed over the course of their lifetimes, usually when they experience fertility problems as adults, says Nicole Tartaglia, a global expert on sex chromosome variations. People with XXY may have learning difficulties and challenges with social interaction, along with physical traits such as small testes, a less muscular body, and less facial and body hair. But most people with Klinefelter syndrome grow up to live productive, healthy lives.
Meanwhile, only 10% of people with XXX or XYY are aware of their condition. But these numbers are growing as genetic testing becomes more widespread. “Judging by the number of phone calls we are getting, the proportion of those who are going undiagnosed is getting smaller,” she says.
The Download: AI films, and the threat of microplastics
The Frost nails its uncanny, disconcerting vibe in its first few shots. Vast icy mountains, a makeshift camp of military-style tents, a group of people huddled around a fire, barking dogs. It’s familiar stuff, yet weird enough to plant a growing seed of dread. There’s something wrong here.
Welcome to the unsettling world of AI moviemaking. The Frost is a 12-minute movie from Detroit-based video creation company Waymark in which every shot is generated by an image-making AI. It’s one of the most impressive—and bizarre—examples yet of this strange new genre. Read the full story, and take an exclusive look at the movie.
—Will Douglas Heaven
Microplastics are everywhere. What does that mean for our immune systems?
Microplastics are pretty much everywhere you look. These tiny pieces of plastic pollution, less than five millimeters across, have been found in human blood, breast milk, and placentas. They’re even in our drinking water and the air we breathe.
Given their ubiquity, it’s worth considering what we know about microplastics. What are they doing to us?
The short answer is: we don’t really know. But scientists have begun to build a picture of their potential effects from early studies in animals and clumps of cells, and new research suggests that they could affect not only the health of our body tissues, but our immune systems more generally. Read the full story.
Microplastics are everywhere. What does that mean for our immune systems?
Here, bits of plastic can end up collecting various types of bacteria, which cling to their surfaces. Seabirds that ingest them not only end up with a stomach full of plastic—which can end up starving them—but also get introduced to types of bacteria that they wouldn’t encounter otherwise. It seems to disturb their gut microbiomes.
There are similar concerns for humans. These tiny bits of plastic, floating and flying all over the world, could act as a “Trojan horse,” introducing harmful drug-resistant bacteria and their genes, as some researchers put it.
It’s a deeply unsettling thought. As research plows on, hopefully we’ll learn not only what microplastics are doing to us, but how we might tackle the problem.
Read more from Tech Review’s archive
It is too simplistic to say we should ban all plastic. But we could do with revolutionizing the way we recycle it, as my colleague Casey Crownhart pointed out in an article published last year.
We can use sewage to track the rise of antimicrobial-resistant bacteria, as I wrote in a previous edition of the Checkup. At this point, we need all the help we can get …
… which is partly why scientists are also exploring the possibility of using tiny viruses to treat drug-resistant bacterial infections. Phages were discovered around 100 years ago and are due a comeback!
Our immune systems are incredibly complicated. And sex matters: there are important differences between the immune systems of men and women, as Sandeep Ravindran wrote in this feature, which ran in our magazine issue on gender.
Welcome to the new surreal. How AI-generated video is changing film.
Fast and cheap
Artists are often the first to experiment with new technology. But the immediate future of generative video is being shaped by the advertising industry. Waymark made The Frost to explore how generative AI could be built into its products. The company makes video creation tools for businesses looking for a fast and cheap way to make commercials. Waymark is one of several startups, alongside firms such as Softcube and Vedia AI, that offer bespoke video ads for clients with just a few clicks.
Waymark’s current tech, launched at the start of the year, pulls together several different AI techniques, including large language models, image recognition, and speech synthesis, to generate a video ad on the fly. Waymark also drew on its large data set of non-AI-generated commercials created for previous customers. “We have hundreds of thousands of videos,” says CEO Alex Persky-Stern. “We’ve pulled the best of those and trained it on what a good video looks like.”
To use Waymark’s tool, which it offers as part of a tiered subscription service starting at $25 a month, users supply the web address or social media accounts for their business, and it goes off and gathers all the text and images it can find. It then uses that data to generate a commercial, using OpenAI’s GPT-3 to write a script that is read aloud by a synthesized voice over selected images that highlight the business. A slick minute-long commercial can be generated in seconds. Users can edit the result if they wish, tweaking the script, editing images, choosing a different voice, and so on. Waymark says that more than 100,000 people have used its tool so far.
The trouble is that not every business has a website or images to draw from, says Parker. “An accountant or a therapist might have no assets at all,” he says.
Waymark’s next idea is to use generative AI to create images and video for businesses that don’t yet have any—or don’t want to use the ones they have. “That’s the thrust behind making The Frost,” says Parker. “Create a world, a vibe.”
The Frost has a vibe, for sure. But it is also janky. “It’s not a perfect medium yet by any means,” says Rubin. “It was a bit of a struggle to get certain things from DALL-E, like emotional responses in faces. But at other times, it delighted us. We’d be like, ‘Oh my God, this is magic happening before our eyes.’”
This hit-and-miss process will improve as the technology gets better. DALL-E 2, which Waymark used to make The Frost, was released just a year ago. Video generation tools that generate short clips have only been around for a few months.
The most revolutionary aspect of the technology is being able to generate new shots whenever you want them, says Rubin: “With 15 minutes of trial and error, you get that shot you wanted that fits perfectly into a sequence.” He remembers cutting the film together and needing particular shots, like a close-up of a boot on a mountainside. With DALL-E, he could just call it up. “It’s mind-blowing,” he says. “That’s when it started to be a real eye-opening experience as a filmmaker.”