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Genetic testing cannot reveal the gender of your baby − two genetic counselors explain the complexities of sex and gender

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theconversation.com – Maggie Ruderman, Assistant Professor of Medicine, Boston – 2024-06-25 07:34:24

Gender and sex are more complicated than X and Y chromosomes.

I Like That One/Digital Vision via Getty Images

Maggie Ruderman, Boston University and Kimberly Zayhowski, Boston University

Gender reveal parties are best known as celebrations involving pink and blue, cake and confetti, and the occasional wildfire. Along with being social media hits, gender reveals are a testament to how society is squeezing into one of two predetermined gender boxes before they are even born.

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These parties are often based on the 18- to 20-week ultrasound, otherwise known as the anatomy scan. This is the point during fetal development when the genitals are typically observed and the word “boy” or “girl” can be secretly written on a piece of paper and placed into an envelope for the planned reveal.

Now there is a new player in the gender reveal game: genetic screening.

Advancements in genetic research have led to the development of a simple blood test called cell-free DNA prenatal screening that screens for whether a baby has extra or missing pieces of genetic information – chromosomes – as early as 10 weeks into pregnancy. Included in this test are the sex chromosomes, otherwise known as X and Y, that play a role in the development and function of the body.

Illustration of human karyotype

Prenatal screening tests look for chromosomal abnormalities.

Anastasia Usenko/iStock via Getty Images Plus

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This blood test is more informally called noninvasive prenatal testing, or NIPT. Many people refer to it as “the gender test.” But this blood test cannot determine gender.

As genetic counselors and clinical researchers working to improve genetic services for gender-diverse and intersex people, we emphasize the significance of using precise and accurate language when discussing genetic testing. This is critical for providing affirming counseling to any patient seeking pregnancy-related genetic testing and resisting the erasure of transgender and intersex people in health care.

Distinguishing sex and sex chromosomes

Sex and gender are often used interchangeably, but they represent entirely different concepts.

Typically when people think of sex, they think of the categories female or male. Most commonly, sex is assigned by health care providers at birth based on the genitals they observe on the newborn. Sex may also be assigned based on the X and Y chromosomes found on a genetic test. Commonly, people with XX chromosomes are assigned female at birth, and people with XY chromosomes are assigned male. Since cell- DNA, or cfDNA, prenatal screening can report on sex chromosomes months before birth, babies are receiving sex assignments much sooner than previously possible.

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While cfDNA prenatal screening can offer insights into what sex chromosomes an infant may have, sex determination is much more complicated than just X's and Y's.

For one, sex chromosomes don't exactly determine someone's sex. Other chromosomes, hormone receptors, neural pathways, reproductive organs and environmental factors contribute to sex determination as well, not unlike an orchestra with its ensemble of instruments. Each cello, flute, tympani and violin plays a crucial role in the performance of the final musical score. There is no single instrument that defines the entirety of the symphony.

Expanding social and medical concepts of sex and gender beyond the binary can and doctors.

Intersex people, or those with variations in sex characteristics that deviate from societal norms of binary sex, exemplify the complexities of sex. These variations can manifest in various ways beyond X and Y chromosomes, such as differences in hormone levels, genitalia or secondary sexual characteristics.

The oversimplification of sex based on societal norms has led many to believe that there are only two discrete sexes. The binary framework of sex excludes intersex people and perpetuates their erasure and mistreatment within both health care and society at large.

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For instance, many intersex individuals face unnecessary surgeries, such as nonconsensual genital procedures, to conform to binary norms, violating their bodily autonomy.

Where gender comes in

While sex typically describes someone's anatomical characteristics, gender is an umbrella term that encompasses the way someone views and themselves to the world. Countless aspects influence how someone defines their own gender and how the world views their gender, including clothing, haircuts and voice tone. Similar to how Western cultures have historically confined sex to two buckets, it has also created two gender categories: man and woman.

Gender is not dependent on anatomical parts or chromosomes. People are not math equations, and certain combinations of biological parts does not equal someone's gender. For example, some people may be transgender, meaning their assigned sex is not congruent with their socially or self-defined gender. Nonbinary people do not identify exclusively with either of the two genders in the binary, regardless of their assigned sex.

Just like sex diversity, gender diversity is not rare. A 2022 Pew Research Center analysis found that approximately 5% of adults in the U.S. under the age of 30 are transgender or nonbinary.

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These estimates will likely increase as societal awareness and acceptance of gender-diverse individuals increases. Anti-transgender legislation often oversimplifies gender as strictly binary, conflating it solely with sex assigned at birth.

Intersex and gender-diverse people show that sex and gender are both multidimensional. Gender is not solely determined by biology, and it is erroneous to define someone's gender by their sex, much less by their sex chromosomes.

Challenging sex and gender norms

The idea that biology plays the largest role in determining who an individual is, or bioessentialism, has governed misconceptions about sex and gender for many years. This concept is used to confine people to buckets and limit their self-determination.

For instance, societal norms dictate that women should be nurturing and gentle, while men are expected to be protective and assertive. Such rigid gender roles, often enforced through the lens of biology, serve to uphold notions of evolutionary destiny and a purported natural order.

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Doctor holding stethoscope on belly of pregnant person

Categorizing your child at birth limits their ability to define who they are.

Halfpoint Images/Moment via Getty Images

Marketing strategies for children's toys often adhere strictly to gender roles, steering girls toward dolls and domestic play sets while steering toward action figures and construction sets.

Educational systems often reinforce gender norms by directing girls toward subjects such as literature and arts while steering boys toward science and mathematics. This perpetuates the notion that certain traits and interests are inherently linked to one's sex and gender, thereby reinforcing societal norms and sustaining inequality.

Upholding binary constructs of sex and gender does not allow for individuality and gender fluidity. Categorizing people from the time their chromosomes are analyzed or the moment their genitals are observed at birth restricts their autonomy and authenticity. These simple assumptions set expectations that can be harmful.

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Letting children define themselves

If you're a parent offered cfDNA prenatal screening during pregnancy, remember that it is commenting only on one instrument in the orchestra of sex. It cannot examine all of the other factors that determine sex as a whole. And it most certainly cannot determine gender, which is an entirely different concert.

In recent years, Jenna Karvunidis, the mother considered the inventor of gender reveal parties, shared her regrets for starting the trend and noted that her views on sex and gender have shifted. In a 2019 Facebook post, Karvunidis wrote, “PLOT TWIST. The world's first gender reveal party baby is a girl who wears suits!” She had also gone on to say, “Celebrate the baby … Let's just have a cake.”

When the envelope is opened, the balloons are popped and the crafty cake is cut, consider how these practices perpetuate social confinements and a gendered destiny for your little bundle of joy. Perhaps opt simply for a celebration that leaves for your child to one day define who they are.The Conversation

Maggie Ruderman, Assistant Professor of Medicine, Boston University and Kimberly Zayhowski, Assistant Professor, Boston University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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The Conversation

Even short trips to space can change an astronaut’s biology − a new set of studies offers the most comprehensive look at spaceflight health since NASA’s Twins Study

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theconversation.com – Susan Bailey, Professor of Radiation Cancer Biology and Oncology, Colorado – 2024-07-03 07:22:56
Crew members from the Inspiration4 mission. New research looks at the biological effects of their short trip to space.
SpaceX, CC BY-NC

Susan Bailey, Colorado State University

Only about 600 people have ever traveled to space. The vast majority of astronauts over the past six decades have been middle-aged men on short-duration missions of fewer than 20 days.

, with private, commercial and multinational spaceflight providers and flyers entering the market, we are witnessing a new era of human spaceflight. Missions have ranged from minutes, hours and days to months.

As humanity looks ahead to returning to the Moon over the coming decade, space exploration missions will be much longer, with many more space travelers and even space tourists. This also means that a wider diversity of people will experience the extreme of space – more women and people of different ethnicities, ages and health status.

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Since people respond differently to the unique stressors and exposures of space, researchers in space health, like me, seek to better understand the human health effects of spaceflight. With such information, we can figure out how to help astronauts stay healthy both while they're in space and once they return to Earth.

As part of the historic NASA Twins Study, in 2019, my colleagues and I published groundbreaking research on how one year on board the International Space Station affects the human body.

I am a radiation cancer biologist in Colorado State University's Department of Environmental and Radiological Health Sciences. I've spent the past few years continuing to build on that earlier research in a series of papers recently published across the portfolio of Nature journals.

These papers are part of the Space Omics and Medical Atlas package of manuscripts, data, protocols and repositories that represent the largest collection ever assembled for aerospace medicine and space biology. Over 100 institutions from 25 countries contributed to the coordinated release of a wide range of spaceflight data.

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The NASA Twins Study

NASA's Twins Study seized on a unique research .

NASA selected astronaut Scott for the agency's first one-year mission, during which he spent a year on board the International Space Station from 2015 into 2016. Over the same time period, his identical twin brother, Mark Kelly, a former astronaut and current U.S. senator representing Arizona, remained on Earth.

Two identical men wearing blue jumpsuits stand next to each other.
NASA astronaut Scott Kelly, left, who went into space during the NASA Twins Study, stands next to his twin brother, Mark Kelly, who stayed on Earth.
AP Photo/Pat Sullivan

My team and I examined blood samples collected from the twin in space and his genetically matched twin back on Earth before, during and after spaceflight. We found that Scott's telomeres – the protective caps at the ends of chromosomes, much like the plastic tip that keeps a shoelace from fraying – lengthened, quite unexpectedly, during his year in space.

When Scott returned to Earth, however, his telomeres quickly shortened. Over the months, his telomeres recovered but were still shorter after his journey than they had been before he went to space.

As you get older, your telomeres shorten because of a variety of factors, stress. The length of your telomeres can serve as a biological indicator of your risk for developing age-related conditions such as dementia, cardiovascular disease and cancer.

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In a separate study, my team studied a cohort of 10 astronauts on six-month missions on board the International Space Station. We also had a control group of age- and sex-matched participants who stayed on the ground.

We measured telomere length before, during and after spaceflight and again found that telomeres were longer during spaceflight and then shortened upon return to Earth. Overall, the astronauts had many more short telomeres after spaceflight than they had before.

One of the other Twins Study investigators, Christopher Mason, and I conducted another telomere study – this time with twin high-altitude mountain climbers – a somewhat similar extreme environment on Earth.

We found that while climbing Mount Everest, the climbers' telomeres were longer, and after they descended, their telomeres shortened. Their twins who remained at low altitude didn't experience the same changes in telomere length. These results indicate that it's not the space station's microgravity that led to the telomere length changes we observed in the astronauts – other culprits, such as increased radiation exposure, are more likely.

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Civilians in space

In our latest study, we studied telomeres from the crew on board SpaceX's 2021 Inspiration4 mission. This mission had the first all-civilian crew, whose ages spanned four decades. All of the crew members' telomeres lengthened during the mission, and three of the four astronauts also exhibited telomere shortening once they were back on Earth.

Four people wearing black jumpsuits wave their hands in the air.
The crew members from SpaceX's 2021 Inspiration4 mission.
SpaceX, CC BY-NC

What's particularly interesting about these findings is that the Inspiration4 mission lasted only three days. So, not only do scientists now have consistent and reproducible data on telomeres' response to spaceflight, but we also know it happens quickly. These results suggest that even short trips, like a weekend getaway to space, will be associated with changes in telomere length.

Scientists still don't totally understand the health impacts of such changes in telomere length. We'll need more research to figure out how both long and short telomeres might affect an astronaut's long-term health.

Telomeric RNA

In another paper, we showed that the Inspiration4 crew – as well as Scott Kelly and the high-altitude mountain climbers – exhibited increased levels of telomeric RNA, termed TERRA.

Telomeres consist of lots of repetitive DNA sequences. These are transcribed into TERRA, which contributes to telomere structure and helps them do their job.

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Together with laboratory studies, these findings tell us that telomeres are being damaged during spaceflight. While there is still a lot we don't know, we do know that telomeres are especially sensitive to oxidative stress. So, the chronic oxidative that astronauts experience when exposed to space radiation around the clock likely contributes to the telomeric responses we observe.

We also wrote a review article with a more futuristic perspective of how better understanding telomeres and aging might begin to inform the ability of humans to not only survive long-duration space travel but also to thrive and even colonize other planets. Doing so would require humans to reproduce in space and future generations to grow up in space. We don't know if that's even possible – yet.

Plant telomeres in space

My colleagues and I contributed other work to the Space Omics and Medical Atlas package, as well, including a paper published in Nature Communications. The study team, led by Texas A&M biologist Dorothy Shippen and Ohio University biologist Sarah Wyatt, found that, unlike people, plants flown in space did not have longer telomeres during their time on board the International Space Station.

The plants did, however, ramp up their production of telomerase, the enzyme that helps maintain telomere length.

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As anyone who's seen “The Martian” knows, plants will play an essential role in long-term human survival in space. This finding suggests that plants are perhaps more naturally suited to withstand the stressors of space than humans.The Conversation

Susan Bailey, Professor of Radiation Cancer Biology and Oncology, Colorado State University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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From diagnosing brain disorders to cognitive enhancement, 100 years of EEG have transformed neuroscience

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theconversation.com – Erika Nyhus, Associate Professor of Psychology and Neuroscience, Bowdoin College – 2024-07-02 07:28:40
The electroencephalogram allowed scientists to record and read brain activity.
Kateryna Kon/Science Photo Library via Getty Images

Erika Nyhus, Bowdoin College

Electroencephalography, or EEG, was invented 100 years ago. In the years since the invention of this device to monitor brain electricity, it has had an incredible impact on how scientists study the human brain.

Since its first use, the EEG has shaped researchers' understanding of cognition, from perception to memory. It has also been important for diagnosing and guiding treatment of multiple brain disorders, epilepsy.

I am a cognitive neuroscientist who uses EEG to study how people remember from their past. The EEG's 100-year anniversary is an opportunity to reflect on this discovery's significance in neuroscience and medicine.

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Discovery of EEG

On July 6, 1924, psychiatrist Hans Berger performed the first EEG recording on a human, a 17-year-old boy undergoing neurosurgery. At the time, Berger and other researchers were performing electrical recordings on the brains of animals.

What set Berger apart was his obsession with finding the physical basis of what he called psychic energy, or mental effort, in people. Through a of experiments spanning his early career, Berger measured brain volume and temperature to study changes in mental processes such as intellectual work, attention and desire.

He then turned to recording electrical activity. Though he recorded the first traces of EEG in the human brain in 1924, he did not publish the results until 1929. Those five intervening years were a tortuous phase of self-doubt about the source of the EEG signal in the brain and refining the experimental setup. Berger recorded hundreds of EEGs on multiple subjects, including his own , with both experimental successes and setbacks.

This is among the first EEG readings published in Hans Berger's study. The top trace is the EGG while the bottom is a reference trace of 10 Hz.
Two EEG traces, the top more irregular in rhythm than the bottom.
Hans Berger/Über das Elektrenkephalogramm des Menchen. Archives für Psychiatrie. 1929; 87:527-70 via Wikimedia Commons

Finally convinced of his results, he published a series of papers in the journal Archiv für Psychiatrie and had hopes of winning a Nobel Prize. Unfortunately, the research community doubted his results, and years passed before anyone else started using EEG in their own research.

Berger was eventually nominated for a Nobel Prize in 1940. But Nobels were not awarded that year in any category due to World War II and Germany's occupation of Norway.

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Neural oscillations

When many neurons are active at the same time, they produce an electrical signal strong enough to spread instantaneously through the conductive tissue of the brain, skull and scalp. EEG electrodes placed on the head can record these electrical .

Since the discovery of EEG, researchers have shown that neural activity oscillates at specific frequencies. In his initial EEG recordings in 1924, Berger noted the predominance of oscillatory activity that cycled eight to 12 times per second, or 8 to 12 hertz, named alpha oscillations. Since the discovery of alpha rhythms, there have been many attempts to understand how and why neurons oscillate.

Neural oscillations are thought to be important for effective communication between specialized brain regions. For example, theta oscillations that cycle at 4 to 8 hertz are important for communication between brain regions involved in memory encoding and retrieval in animals and humans.

Finger pointing at EEG reading
Different frequencies of neural oscillations indicate different types of brain activity.
undefined undefined/iStock via Getty Images Plus

Researchers then examined whether they could alter neural oscillations and therefore affect how neurons to each other. Studies have shown that many behavioral and noninvasive methods can alter neural oscillations and to changes in cognitive performance. Engaging in specific mental activities can induce neural oscillations in the frequencies those mental activities use. For example, my team's research found that mindfulness meditation can increase theta frequency oscillations and improve memory retrieval.

Noninvasive brain stimulation methods can target frequencies of interest. For example, my team's ongoing research found that brain stimulation at theta frequency can lead to improved memory retrieval.

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EEG has also led to major discoveries about how the brain processes information in many other cognitive domains, including how people perceive the world around them, how they focus their attention, how they communicate through language and how they emotions.

Diagnosing and treating brain disorders

EEG is commonly used to diagnose sleep disorders and epilepsy and to guide brain disorder treatments.

Scientists are using EEG to see whether memory can be improved with noninvasive brain stimulation. Although the research is still in its infancy, there have been some promising results. For example, one study found that noninvasive brain stimulation at gamma frequency – 25 hertz – improved memory and neurotransmitter transmission in Alzheimer's disease.

Back of person's head enveloped by the many, small round electrodes of an EEG cap
Researchers and clinicians use EEG to diagnose conditions like epilepsy.
BSIP/Collection Mix: Subjects via Getty Images

A new type of noninvasive brain stimulation called temporal interference uses two high frequencies to cause neural activity equal to the difference between the stimulation frequencies. The high frequencies can better penetrate the brain and reach the targeted area. Researchers recently tested this method in people using 2,000 hertz and 2,005 hertz to send 5 hertz theta frequency at a key brain region for memory, the hippocampus. This led to improvements in remembering the name associated with a face.

Although these results are promising, more research is needed to understand the exact role neural oscillations play in cognition and whether altering them can lead to long-lasting cognitive enhancement.

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The future of EEG

The 100-year anniversary of the EEG provides an opportunity to consider what it has taught us about brain function and what this technique can do in the future.

In a survey commissioned by the journal Nature Human Behaviour, over 500 researchers who use EEG in their work were asked to make predictions on the future of the technique. What will be possible in the next 100 years of EEG?

Some researchers, including myself, predict that we'll use EEG to diagnose and create targeted treatments for brain disorders. Others anticipate that an affordable, wearable EEG will be widely used to enhance cognitive function at home or will be seamlessly integrated into virtual reality applications. The possibilities are vast.The Conversation

Erika Nyhus, Associate Professor of Psychology and Neuroscience, Bowdoin College

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Supreme Court kicks cases about tech companies’ First Amendment rights back to lower courts − but appears poised to block states from hampering online content moderation

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theconversation.com – Lynn Greenky, Professor Emeritus of Communication and Rhetorical Studies, Syracuse University – 2024-07-01 15:26:42
How much power do social media companies have over what users post?
Midnight Studio/iStock/Getty Images Plus

Lynn Greenky, Syracuse University

The U.S. Supreme Court has sent back to lower courts the decision about whether states can block social media companies such as Facebook and X, formerly Twitter, from regulating and controlling what users can post on their platforms.

Laws in Florida and Texas sought to impose restrictions on the internal policies and algorithms of social media platforms in ways that influence which posts will be promoted and spread widely and which will be made less visible or even .

In the unanimous decision, issued on July 1, 2024, the high court remanded the two cases, Moody v. NetChoice and NetChoice v. Paxton, to the 11th and 5th U.S. Circuit Courts of Appeals, respectively. The court admonished the lower courts for their failure to consider the full force of the laws' applications. It also warned the lower courts to consider the boundaries imposed by the Constitution against interference with private speech.

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Contrasting views of social media sites

In their arguments before the court in February 2024, the two sides described competing visions of how social media fits into the often overwhelming flood of information that defines modern digital society.

The states said the platforms were mere conduits of communication, or “speech hosts,” similar to legacy telephone companies that were required to carry all calls and prohibited from discriminating against users. The states said that the platforms should have to carry all posts from users without discrimination among them based on what they were saying.

The states argued that the content moderation rules the social media companies imposed were not examples of the platforms themselves speaking – or choosing not to speak. Rather, the states said, the rules affected the platforms' behavior and caused them to censor certain views by allowing them to determine whom to allow to speak on which topics, which is outside First Amendment protections.

By contrast, the social media platforms, represented by NetChoice, a tech industry trade group, argued that the platforms' guidelines about what is acceptable on their sites are protected by the First Amendment's guarantee of speech free from government interference. The companies say their platforms are not public forums that may be subject to government regulation but rather private services that can exercise their own editorial judgment about what does or does not appear on their sites.

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They argued that their policies were aspects of their own speech and that they should be allowed to develop and implement guidelines about what is acceptable speech on their platforms based on their own First Amendment rights.

Here's what the First Amendment says and what it means.

A reframe by the Supreme Court

All the litigants – NetChoice, and Florida – framed the issue around the effect of the laws on the content moderation policies of the platforms, specifically whether the platforms were engaged in protected speech. The 11th U.S. Circuit Court of Appeals upheld a lower court preliminary injunction against the Florida , holding the content moderation policies of the platforms were speech and the law was unconstitutional.

The 5th U.S. Circuit Court of Appeals came to the opposite conclusion and held that the platforms were not engaged in speech, but rather the platform's algorithms controlled platform behavior unprotected by the First Amendment. The 5th Circuit determined the behavior was censorship and reversed a lower court injunction against the Texas law.

The Supreme Court, however, reframed the inquiry. The court noted that the lower courts failed to consider the full range of activities the laws covered. Thus, while a First Amendment inquiry was in order, the decisions of the lower courts and the arguments by the parties were incomplete. The court added that neither the parties nor the lower courts engaged in a thorough analysis of whether and how the states' laws affected other elements of the platforms' products, such as Facebook's direct messaging applications, or even whether the laws have any impact on email providers or online marketplaces.

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The Supreme Court directed the lower courts to engage in a much more exacting analysis of the laws and their implications and provided some guidelines.

First Amendment principles

The court held that content moderation policies reflect the constitutionally protected editorial choices of the platforms, at least regarding what the court as “heartland applications” of the laws – such as Facebook's Feed and YouTube's homepage.

The Supreme Court required the lower courts to consider two core constitutional principles of the First Amendment. One is that the amendment protects speakers from being compelled to communicate messages they would prefer to exclude. Editorial discretion by entities, social media companies, that compile and curate the speech of others is a protected First Amendment activity.

The other principle that the amendment precludes the government from controlling private speech, even for the purpose of balancing the marketplace of ideas. Neither nor federal government may manipulate that marketplace for the purposes of presenting a more balanced array of viewpoints.

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The court also affirmed that these principles apply to digital media in the same way they apply to traditional or legacy media.

In the 96-page opinion, Justice Elena Kagan wrote: “The First Amendment … does not go on leave when social media are involved.” For now, it appears the social media platforms will continue to control their content.The Conversation

Lynn Greenky, Professor Emeritus of Communication and Rhetorical Studies, Syracuse University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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