Monday, July 22, 2024

[reprint] Sex, Gender, and Genetic Testing

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

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 children into one of two predetermined gender boxes before they are even born.

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

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-free DNA, or cfDNA, prenatal screening can report on sex chromosomes months before birth, babies are receiving sex assignments much sooner than previously possible.

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 help patients 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.

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 presents 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 having 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.

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.

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 boys 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.

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 space 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.

Friday, July 19, 2024

Book Review: A Child Kidnapping in 1920s Hollywood

 Saving Susy Sweetchild, by Barbara Hambly (Severn House)


Barbara Hambly is one of my all-time favorite authors. I will follow her across genres, from science fiction to fantasy to historical fiction to murder mysteries. And what better combination than a mystery set in 1920s Hollywood, filled with glamour, Prohibition, drugs, silent film stars…and the occasional crime? I fell in love with Hambly’s take on this era with her iconic Bride of the Rat God (not kidding!) and eagerly dived into her current series of “Silver Screen Historical Mysteries.”

The protagonist is Emma Blackstone, widowed daughter of an English don (professor, in this case of Antiquities—Emma regularly quotes Ancient Greek and Latin), now earning her keep as companion and helper to her beautiful silent-movie star sister-in-law, Kitty. Among Emma’s duties are catering to Kitty’s three “celestial cream cakes,” aka Pekinese dogs, modeled after Hambly’s own pups. In her spare time, Emma edits film scenarios for Kitty’s producer, romances a cinematographer, and solves mysteries.

This third mystery in the series takes place in 1924, a time rampant with child kidnappings. Infant Blakely Coughlin (abducted in 1920), 5-year-old Giuseppi Verotta (1921), 14-year-old Robert “Bobby” Franks (killed by Leopold and Loeb in 1924), Marion Parker (1927), Grace Budd (1928), and Gill Jamieson (1929) were among those never returned to their parents. In Hambly’s mystery, the victim is Susy Sweetchild, an immensely talented child actor. From the time Emma first sees Susy, she realizes the child is in danger, from the drunken horse wrangler in the Western in which Susy stars to the mother who is only interested in Susy’s earnings, the drunken/absent father (lots of booze during Prohibition) to the grasping aunt and grandfather to the producer who simply doesn’t care so long as Susy’s films make money. So when Susy and her mother both disappear and the studio receives a ransom note ending “Do not call the cops,” it’s up to Emma, her sweetheart, and the Pekinese to unravel the mystery before it’s too late.

As with all Hambly’s work, Saving Susy Sweetchild balances page-turner tension, wonderful characters (including the dogs!), twists-upon-plot-twists, and heart-stopping moments. From start to finish, it’s a treat.

I received a review copy of this book through NetGalley. The book will be released on September 3rd, 2024.

 


Monday, July 15, 2024

[Guest Post] Lara Ferrari on Building Authentic Relationships With Readers

Lara Ferrari (of Lemon Friday) has marvelous, insightful suggestions for how writers can create and nourish connections with our readers. Actually, many of these apply to other relationships, too! The following are from a recent article by Lara:


Here are 12 ways you can build personal connections and authentic relationships with readers (in a way AI could never):


Relatable, real-life struggles

1. Readers don't want 'perfect'; they want 'real'. So don't be scared to open up about something you're currently finding hard.

2. If you've overcome something difficult and emerged on the other side – good for you! – celebrate and share your inspirational story with your followers.

Community-centered conversations

3. Readers (like everyone else) love to feel included – so involve your community in the creation of your book. Use your captions to share exclusive tidbits and then ask for input, ideas and feedback.

4. Who doesn't like giving their opinion?! Prove to your readers that you genuinely care what they think by asking for their takes on a book or life-related topic.

Honest insights into your writing process

5. Getting a glimpse into an author's writing process is like sneaking a peek behind the curtains of a magic show. Every writer is different (and most readers are nosy!) so open up about how your magic is made.
 
6. Don't be afraid to talk about the good, fun, exciting stuff and the challenging, frustrating, heartbreaking stuff. It's a great way to build human connections – and intrigue for your book.




"On a mission to simplify book marketing for writers who’d rather be writing, Lemon Friday founder Lara Ferrari has personally helped over 100 authors and aspiring authors grow engaged communities of readers online. Her handy tips, tools and templates are designed to streamline your marketing so you can build a legion of super-fans… before your book is even written."

The link to get the full download is: https://lemonfriday.myflodesk.com/future-proof


Here's a reel of Lara talking about AI and writers. I hope you find her as delightful as I do!




Friday, July 12, 2024

Short Book Reviews: Felicia's Intrepid Personality Shines Through

The Serpent in Heaven, by Charlaine Harris (Saga)


Here’s the setup for the fourth “Gunnie Rose” novel: Magic and alternate history have transformed the America we know into a handful of nations, the West Coast being dominated by the Holy Russian Empire, its capital being San Diego. Felicia (half-sister to Lizbeth Rose, the hero of the first three) is a granddaughter of Rasputin and one of the few people alive whose blood can keep Tsar Alexei alive. This has earned her a place at an exclusive school for magically talented kids, although she’s treated as a nonentity and a charity case. Felicia, who grew up in extreme poverty in Mexico, nevertheless thinks of the school as heaven…until she’s the target of a kidnapping attempt. With Spanish influenza raging through the school, she’s got to escape and then figure out who’s after her and why.

Told in first person, Felicia’s intrepid personality shines through and makes the book a joy to read. That’s apart from the dramatic action and hints of romance.

Take this to the beach and you’ll end up with a sunburn from reading too long.


 

Monday, July 8, 2024

Retirement Dream, a poem by Nancy Jane Moore

 RETIREMENT DREAM

I’m told the Moon’s gravity is
one-sixth of that here on Earth.
Imagine time spent in a place
where there’s so little resistance.

I could do a grand-jeté there
even though I flunked out of ballet.
Or maybe a jump kick to the head
since I prefer fighting to dance.

Wouldn’t matter that the cartilage is gone.
My knees wouldn’t hurt on the Moon.
And falls wouldn’t do any damage
if my bones grow brittle and thin.

No one yet lives on the Moon.
Scientists are focused on Mars.
They’re looking to make great discoveries.
I’m seeking full life to the end.



This poem first appeared in the January 4, 2024 issue of Strange Horizons

 

Publication of this poem was made possible by a gift from Space Cowboy Books/Jean-Paul L. Garnier.