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New Method Improves Speed and Cost of Birth Defect Testing

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After 10 years of effort, medical researchers at Columbia University have developed a very fast and cheap way to detect the extra or missing chromosomes that most often cause miscarriages or severe birth defects.

The method, described Wednesday in the New England Journal of Medicine, takes less than two hours using a palm-size device and costs $200 per use. With current testing procedures, women can end up paying $1,000 to $2,000, often out of pocket.

The technique, developed by Dr. Zev Williams, director of the Columbia University Fertility Center, and his colleagues, uses cells and tissues obtained from existing prenatal screening procedures of embryos and fetuses, or tissue obtained after miscarriages. Its key advantage is that the cells or tissue do not have to be sent to a testing lab — the analysis can be done in the same office that obtained the material, and results are ready in hours rather than days or weeks.

Dr. Williams’s results still need to be confirmed by outside studies. But if the method were widely used, it could help more women who had lost pregnancies better understand what caused their miscarriages. For women who have embryos tested during in vitro fertilization, it would also avoid lengthy waits for results. The same would be true of women who have prenatal testing of fetuses with amniocentesis or chorionic villus sampling, known as C.V.S. And for women in states that have restricted abortion to within the first 15 or 18 weeks of a pregnancy, it could provide a bit more lead time in deciding whether to terminate a pregnancy.

Current screening methods, sent to centralized labs, involve lengthy wait times for women. The longest delay in getting test results is for women who have had miscarriages. Those women may have to wait several weeks, because labs must first grow cells in order to have thousands to examine, said Dr. James Grifo, program director of the New York University Langone Fertility Center, who was not involved in the new study.

Dr. Mark Hornstein, director of the division of reproductive endocrinology and infertility at Brigham and Women’s Hospital in Boston, said the cultured cells sometimes died before they could be tested.

“It is very difficult to keep cells alive and not contaminated for three weeks,” Dr. Hornstein said. “Not infrequently, we get no growth. We wait three weeks, and then the lab tells us, ‘You have no cells.’”

The new test avoids these delays by using a method called nanopore sequencing, which was developed to read the sequences of very long strands of DNA but has not been used to look for chromosomal anomalies.

Dr. Williams and his colleagues modified the preparation of DNA samples to use nanopore sequencing with small DNA pieces. Each DNA segment should appear as two copies — one from each chromosome. If there are three copies, that means there is an extra chromosome; if there is one copy, that means a chromosome is missing.

Chromosome testing can provide important information for women and their doctors because extra or missing chromosomes are usually fatal to embryos. Fetuses that survive with them often have severe birth defects. The best-known example — Down syndrome — is “actually one of the mildest,” Dr. Williams said.

That can be important for in vitro fertilization. The older a woman is, the more likely that an embryo will have chromosomal abnormalities. For 30-year-old women, the risk is 25 percent. It is 75 percent in women at age 42.

Women who undergo I.V.F. and who opt to have their embryos tested before implantation usually have to pay for the testing themselves. The embryos are frozen to preserve them while testing goes on. The woman has to wait for the next month’s menstrual cycle for implantation.

While test results using tissue from miscarriages take weeks, central labs get results from tests on embryos or fetuses in about three to five days. That is because cells from an embryo or fetus do not grow well in culture, Dr. Grifo explained, so the cells are tested sooner, but with a modest reduction in accuracy.

But the new method yields results from those same tests on embryos or fetuses on the same day, within hours.

The new test might also help alleviate a problem with prenatal testing in a handful of states that allow abortions only during the first 15 or 18 weeks of pregnancy.

Amniocentesis is usually done between 15 and 20 weeks of pregnancy and C.V.S. between the 11th and 14th weeks. If a woman waits days for test results, it might be too late in some states to terminate her pregnancy.

Dr. Williams and his colleagues tested their method by examining 218 samples, comparing their results to those from standard tests of the same samples.

The results were identical for amniotic fluid and C.V.S. tissues. But in one of the 52 embryos tested, the standard test found an extra chromosome 21, meaning Down syndrome, while the new test did not.

“We requested that the clinical lab retest that sample, but they didn’t have any material left to retest, so we can’t determine which result was correct,” Dr. Williams said.

Tests of 10 miscarriage samples examined with the new method were different from those of the standard test, but it turned out the standard test was wrong.

The group also showed that a group of technicians could quickly learn to do the test and get accurate results.

“It’s a great start,” Dr. Grifo said. He added that he would like the accuracy of embryo testing to be 100 percent but said that he was confident that would happen.

Dr. Hornstein, who was also not associated with the study, cautioned that the test was not yet ready for widespread use. There need to be independent studies that confirm that its results are accurate, and there must be evidence that it is “technically easy enough that any lab can do it,” he said.

But he added that if those conditions are met, he expects the test to be adopted widely.

Dr. Williams, who has applied for a patent, said he hoped to offer the test at Columbia soon. He submitted his data to New York State for approval.

“Once it’s approved, we are ready to go,” he said.

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Love Letter: A Mysterious Delivery

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After Charlotte Maya lost her husband to suicide, she and her young sons were used to unexpected visitors. But when her doorbell rang one mid-December evening, nobody was there.

Instead, on her doormat was a kit to make a gingerbread house with a note that only said, “On the First Day of Christmas. … ”

In this week’s Modern Love essay, “When a Doorbell’s Ring Means Hope,” Ms. Maya describes how a series of mysterious deliveries buoyed her family during their darkest days.

Join the 7-Day Happiness Challenge.

Research shows that the single most important driver of happiness is the strength of our relationships. Sign up for a week of exercises from the New York Times Well desk that will help set you up for a happier, more connected year.

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How One Japanese-American Designer Is Revitalizing Vintage Kimonos

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In her Brooklyn studio, designer Sara Sakanaka keeps a small drawstring bag that her grandmother made for her decades ago. Sewn from textile scraps, the striped pouch is one of Sakanaka’s oldest keepsakes, an heirloom representing a generations-old philosophy. “My mom used to tell me this story. It was about how if we treat objects with love and care for one hundred years, they can obtain a soul,” she shares as pours each of us a cup of Mugicha, a Japanese Barley tea that she grew up drinking. We met at her studio on a gray Tuesday morning, where a collection of silk separates, each made from reclaimed Japanese kimonos, hangs neatly. On a shelf, folded piles of salvaged textiles wait for her to sew them into something new, just like her grandmother once did as a hobby. “There’s this whole idea that objects have lives,” she says. “I like to see every piece as a true considered object in that way.” 

Nick Krasznai / courtesy of Considered Objects 

It makes sense then that Sakanaka would name her own label Considered Objects. The 39-year-old launched her line—a collection of hand-sewn jackets, dresses, and shirtings that are made entirely from reclaimed Japanese kimonos and textiles—just two years ago. “I never had the dream of starting a business,” she shares. “I was happy working toward someone else’s vision. But at some point, there’s this part of you that wants to explore what you want to say. It took time for me to be able to discover that.” 

Sakanaka has a lot to say. With 20 years of experience under her belt, she has developed a design philosophy of her own. “I have no interest in buying new materials or producing with mills,” she says while showing me the intricate, hand-stitched panels of a vintage summer kimono. As she points out its cotton lining and hand-painted family crests (her own paternal and maternal family crests are tattooed on each of her arms), it becomes clear that she is not just making clothing; she’s stitching age-old stories into contemporary garments. “After years of working at different fashion brands, I found that you can get stuck on this hamster wheel. What has always grounded me was the question, ‘how can I not only find true meaning in these things, but how can I offer connection through these pieces?’”

Nick Krasznai / courtesy of Considered Objects 

Nick Krasznai / courtesy of Considered Objects 

An FIT graduate, the apparel designer previously worked for fashion label Imitation of Christ, luxury line Ports 1961, bespoke womenswear collection Honor, and the Japanese fashion house Foxey. In 2020, after spending nearly four years traveling back and forth between New York and Japan for work, she felt she was ready for something new. “I started to wonder how I would mentally, physically, and creatively sustain. I was burnt out.” she tells me. Around that time, her grandmother, the one who gave her the collaged drawstring bag and taught her how to sew, passed away. “This was during the pandemic, so I wasn’t able to attend her funeral in Japan. I had previously inherited her collection of kimonos and rediscovered them during that time. I had completely forgotten about them, but learning about them became part of my grieving process. Having those made me feel close to her,” Sakanaka reflects. 

It was then that she took a page from her grandmother’s book. “Studying these shambled garments and giving them new life through reconstruction was a way for me to heal while reconnecting with myself and my culture,” she says. Preserving the original rectangular panels and stitching style from each kimono, the designer began dismantling and reassembling each one. Her first design? A classic, collared, button-down shirt. Inside each shirt she constructed, Sakanaka sewed a layered patchwork flower made from leftover silk scraps. “That flower, that mark, it was sort of my way of memorializing the whole experience of my creation and of finding closure. It was a way of bestowing my honor upon each piece.” 

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Here’s How to Style 5 Luxurious Loungewear Sets This Winter

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All products featured on Vogue are independently selected by our editors. However, we may earn affiliate revenue on this article and commission when you buy something.

Cozying up for the winter has never looked chicer courtesy of luxurious loungewear sets from The Row, Wardrobe.NYC, Éterne, and more. Crafted from ultra-soft cashmeres and sultry silks, these matching sets are as indulgent as it gets and can be worn in the comfort of your own home or out and about for casual coolness. As the newly appointed foundation of your winter wardrobe, styling a luxe loungewear set properly can offer both ease and elegance at the same time. 

For an elevated errand ensemble, The Row’s ‘Jaspar’ hoodie and matching ‘Anton’ wide-leg pants are knitted from the softest of cashmere. The chic combination is so comfortable that you won’t want to change once you get home. Enhance the look with stylish sneakers from Nike, plush cable-knit socks from Johnstons of Elgin, and Nothing Written’s minimalist bag. Loungewear sets, like this cashmere turtleneck and midi skirt pairing from Altuzarra, also have the power to be dressed up for festive evenings out, especially when adorned in jewels from Missoma and Laura Lombardi. A matching activewear set from Sporty & Rich ensures that you arrive at any workout in style. Sofa-ready outfits from Wardrobe.NYC and Olivia Von Halle help curate the perfect night in this holiday season and beyond. 

This winter, investing in a loungewear set has never looked better. Below, here are five ways to style luxe loungewear sets that are as comfortable as they are chic. (Plus, also find a few more statement sets to add to your winter wardrobe.) 

The Elegant Errand Runner

Nothing says chic errand runner like this matching cashmere hoodie and pant set from The Row. Knitted from the softest of cashmere, it’s a chic combination so comfortable that you won’t want to change once you get home. Enhance the look with stylish sneakers from Nike, plush cable-knit socks from Johnstons of Elgin, and Nothing Written’s minimalist bag. Jewels from Mejuri are welcome embellishments. 

The Row Jaspar cashmere hoodie

The Row Anton cashmere high-rise pants

Johnstons of Elgin cable-knit cashmere socks

Nothing Written Ferry bag

Mejuri bold Croissant dôme huggies

The Cozy, Yet Chic Evening Look 

A loungewear set doesn’t have to be confined to the comforts of your own home or even resemble a traditional sweatsuit, for that matter. Case in point: find this dazzling skirt set from Altuzarra that is crafted from pure cashmere. Complete the elegant evening ensemble with Saint Laurent’s croc-effect pumps and Anine Bing’s minimalist handbag. Drip in gold thanks to Missoma hoop earrings and Laura Lombardi’s cult-classic necklace. 

Saint Laurent Blade chain croc-effect leather slingback pumps

Anine Bing Colette shoulder bag

Missoma x Lucy Williams chunky entwine hoop earrings

Laura Lombardi Calle gold-plated necklace

The Statement Sporty Attire

When it comes to activewear, a matching set, like this one from Sporty & Rich, will ensure that you arrive at any workout in style. Go one step further and tie the brand’s ‘Wellness’ sweatshirt around your waist for extra comfort. New Balance ‘Core’ sneakers are a staple in any workout wardrobe, as are these Bala Bangles and Stanley’s tumbler to keep you nice and hydrated. 

Sporty & Rich appliquéd cotton-jersey sweatshirt

Sporty & Rich cropped printed stretch-jersey tank

Sporty & Rich printed stretch-jersey leggings

New Balance 574 Core sneakers

Stanley Quencher H2.O travel tumbler, 40oz

The Luxurious Loungewear Set

Wardrobe.NYC x Hailey Bieber’s simple grey sweatshirt and sweatpants are prime examples of luxurious loungewear. Wear with a coveted pair of Birkenstocks—or even heels for an elevated athleisure look. But because we’re sticking with loungewear, cozy up even more courtesy of cashmere socks from Raey and Brunello Cucinelli’s alpaca-blend blanket. Loewe’s scented candle is an immediate ambiance enhancer. 

Wardrobe.NYC x Hailey Bieber cotton sweatshirt

Wardrobe.NYC x Hailey Bieber wide-leg cotton sweatpants

Birkenstock Boston shearling clogs

Raey ribbed cashmere-blend socks

Brunello Cucinelli speckled-jacquard fringed alpaca-blend blanket

Loewe Home Scents Honeysuckle medium scented candle, 610g

The Perfect Pair of Pajamas 

Olivia Von Halle’s ‘Coco’ pajama set is crafted from the finest of satins to create a soft-to-the-touch feel you’ll never want to take off. Meanwhile, Ugg slippers are the perfect accoutrement. Continue to wind down with the help of scented bath salts from Maude and Augustinus Bader’s luxurious face cream. Reflect on your day with The Five Minute Journal and finally get some shut-eye thanks to Brooklinen’s silk eye mask. 

Olivia Von Halle Coco silk-satin pajama set

Ugg Scuffette II slippers

Brooklinen Mulberry silk eyemask

Augustinus Bader The Rich Cream with TFC8® face moisturizer

Maude Soak No. 2 nourishing mineral bath salts

Shop More: 

Leset Lauren cropped stretch-knit cardigan

Leset Lauren stretch-knit wide-leg pants

Éterne oversized crewneck sweatshirt

Éterne classic sweatpants

Lisa Yang Jonny cap-sleeved cashmere sweater

Lisa Yang Sierra wide-leg cashmere trousers

Zara basic hoodie sweatshirt

Girlfriend Collective ReSet cropped stretch recycled top

Girlfriend Collective compressive stretch recycled flared leggings

Le Kasha Etretat organic cashmere sweater

Le Kasha Sumbal cashmere wide-leg pants

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