#aneuploidy

[bpod-bpod]

Actin Your Age

Loss of or impairment of a protein called F-actin in eggs of older females underlies the increased incidence of embryos with an abnormal chromosome number

Read the original article here

Still from video from work by Sam Dunkley and Binyam Mogessie

School of Biochemistry, University of Bristol, Bristol, UK

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Science Advances, January 2023

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[cytgen]

Abstract Worldwide, endometrial cancer is one of the most frequently diagnosed malignancies in women and a notable cause of death. The aim of this study was to perform image cytometric DNA ploidy analysis on a prospective material of endometrial adenocarcinomas in order to determine potential correlation between ploidy status and their histological features. The analysis was carried out in fresh tissue samples resected by implementing complete hysterectomy in a series of patients (n = 126). We found that ploidy status using image cytometry correlate with histologic type, grade and stage in endometrial cancer and aneuploid tumor samples are associated with aggressive phenotype statistics. Furthermore, DNA ploidy should be used as a reliable and applicable prognostic marker in the routine clinical practice.

Keywords: DNA ploidy Image cytometry diploid aneuploidy endometrial carcinoma endometrial cancer

[harrypotterfuryroad]

Are you pretty knowledgeable about genetics regarding sexual reproduction?

my doctorate is closer to neuroscience so i wouldn’t say i’m an expert in genetics but at least i’m not claiming that aneuploidies constitute distinct sexes

[religion-is-a-mental-illness]

By: Frederick R. Prete

Published: Mar 1, 2024

A few weeks ago, I wrote a piece that appeared on the Substack, Reality’s Last Stand. My intent was to compliment and complement Dr. Wright’s critique of Ian Copeland’s (erroneous) claim that biological sex (which is different from “gender”) is non-binary. Copeland’s somewhat tired arguments were based on a misunderstanding of genetic aneuploidies (errors in chromosome number), and poorly reasoned analogies to the fact that some fish change sex over the course of their lives. I’d like to revisit and expand a few of my points here.

As usual, Wright’s analysis was thoughtful and accurate. However, I wondered out loud how much of this long-suffering debate is shorn up by repeated attempts to engage in it with evermore biologically detailed counter arguments — a thankless task in which I, too, have participated. Although I have the utmost respect for those with the patience to remain in the argumentative fray, I don’t think reason will ever change what is, in effect, an ideological point of view. But, again, I admire those who try.

As I said in the piece, we need to recognize that some arguments are just wrong. So wrong, in fact, that a reasoned rebuttal is not only futile but beside the point. In those instances, we should be honest. I know from decades of teaching that sometimes I have to say to a student — always in a kind and respectful way — that while I appreciate their point of view, it is simply mistaken… It doesn’t jibe with anything that I know about the natural world. In such instances, this is the most honest and effective response, and it allows the discussion to be reset on a more reasonable foundation.

To be clear, even very smart, well-meaning people come up with far-fetched ideas born out of fundamental misunderstandings, or ignorance about a particular topic. (That would be the case, for instance, if I tried to diagnose what’s wrong with your car, a topic about which I know absolutely nothing.) In these instances, it makes little sense to debate the erroneous argument and then rebut the person’s attempts to support their misconceptions with additional unfounded speculations (often ad infinitum). So, if I claim that an animal’s sex is determined by radio waves beamed down from the planet Zenon by unicorns, it would be a waste of your time to explain to me that unicorns couldn’t make radio transmitters with their little hoofs, or that Zenon (wherever it is) is too far away to communicate with us earthlings. If you did offer up this rebuttal, I’d simply come up with some counter argument about unicorn dexterity or the superior strength of unicorn radio technology. That would be a total waste of our time. At some level, I suppose, it’s also disingenuous to pretend that the unicorn argument merits a reasoned response. I think it would be more honest (and effective) just to dismiss the unicorn theory out of hand rather than fueling — and thereby giving credence to — an unending back-and-forth.

That’s how I feel about the recurring claims that disorders of sexual development (DSDs), or genetic aneuploidies represent unique sexes. Frankly, these claims are so discordant with the realities of biology that they will never be refuted successfully by logic, reason, or data. To argue that biological anomalies represent unique sex categories makes no more sense than claiming a syndrome such as CDC (which can result in penile duplication) gives rise to ‘new types’ of men. These arguments are simply wrong. End of conversation.

And, please, just ignore those ridiculous — but supposedly instructive — analogies to animals. Let’s be honest. Animals do a lot of weird things. They enslave other animals, eat their offspring, cannibalize their lovers, kill their newborn twin sisters, and devour their siblings in the womb. Does anyone want to justify slavery or sibling cannibalism because animals do it?

And, how about those strange animal mating behaviors? Consider the male argonaut (a genus of octopus). He grows a sperm carrying third left arm in a pouch under his eye which — when he’s ready for love — explodes out of its sheath, detaches from his face, swims away all by itself, latches onto a female, and then wriggles its way into her mantle cavity to drop off a packet of sperm. Do you think we humans should invent a face-mounted, free-flying phallus to enhance our love-life? After all, it works for the argonaut. (By the way, I don’t think you should add that suggestion to your online dating profile.)

Well, If a free-flying phallus doesn’t seem like a good idea, why would anyone think that the sexual behaviors of other aquatic animals — like sex-changing clown fish — reveal some profound philosophical insights into the human condition?

Even more exasperating is the fact that the people who keep harping on sex-changing fish never get the story straight. The truth is that the sex changes that occur in about 20 families and seven orders of fish are the result of neuro-physiological and hormonal events triggered — depending upon the species — by ultimate body size, perceived social status, or (in the monogamous clown fish, Amphiprioninae) after the big breeding female has disappeared. In addition, the large, dominant, newly-minted female is viciously aggressive to any fish outside of her immediate family. So, if we’re taking our cues from clown fish, let’s not be hypocrites. Let’s go all the way: Only really large, domineering, hyper-monogamous humans who are particularly xenophobic should consider changing sex, but only after all the females in the neighborhood disappear. Does that even make sense? (You know I’m being facetious, right?) It’s a silly analogy. Is it worth debating?

In the previous essay, I also brought up an obvious (but consistently ignored) point of fact: Fish live in the water. People live on land. This makes all the difference in the world when it comes to sex. If you live in water, you can spray your eggs and sperm (gametes) into the liquid environment and let them drift around until they hook up. That’s because, in water, they won’t dry out and die. And, neither will the resulting embryos because they’ll be in the water, too. That’s why some fish can produce eggs or sperm at different times in their lives. It doesn’t take any special external body parts to squirt gametes into water. All you need is a gonad to make the gametes and an orifice to let them out.

However, if you’re a terrestrial mammal (living on dry land), you have a problem. You can’t squirt your gametes on the ground and hope for the best. They’ll shrivel up and die. So, male terrestrial animals evolved special external body parts with which to insert sperm directly into females (where it’s warm and moist), and females evolved body parts designed to accept that protuberance. In addition, female mammals (except for a few monotremes) evolved a chamber in which to hold the developing embryo until it’s ready to face a potentially desiccating life on land. Equally important, both males and females evolved complementary behavioral patterns that allow them to court and mate successfully. Frankly, it doesn’t make any difference if you’ve got the external body parts but you don’t know how to use them. (Get my drift?)

That’s why terrestrial mammals can’t change sex like fish. Doing so would require females to magically sprout some kind of tube to deliver sperm internally, and males would have to spontaneously develop a complementary orifice. In addition — and more importantly — males and females would have to develop all the necessary internal ‘plumbing’ and mating behaviors necessary to operate their new equipment. So, a mammalian sex change requires more than altering the external structures. That’s the easy part. It can be done surgically, even on your pets.

Becoming a male terrestrial animal would require developing a complex duct system linking the gonads to that new, external tube, and internal glands to secrete a carrying fluid and nutrients for the sperm (i.e., the Wolffian duct system, prostate, and bulbourethral glands). Becoming a female would require developing some kind of internal tube that would catch the eggs when they’re released into the abdominal cavity, hold them until they meet some sperm, and house the developing embryo (i.e., the derivatives of the Müllerian duct system).

Obviously, none of this could happen. When it comes to mammals, the die is cast prenatally. In other words, whatever fish do is their business. It has no grand implications for terrestrial mammals. So, let’s drop the clown fish and Asian sheepshead wrasse analogies. Anybody who brings them up simply doesn’t understand evolutionary or developmental biology. It’s not worth the debate unless, of course, you’re one of those people who thinks that because some animals are parthenogenic, we should simply stop having sex altogether and hope for the best.

I also want to clear up two more points. The first is sort of minor. It has to do with the large gamete/small gamete dichotomy between male and female animals: Females produce large gametes; males produce small gametes. This is frequently cited as evidence that there are just two sexes, easily differentiated by gamete size. Although generally true, I want to point out (yet again) that there are always exceptions in biology. Unfortunately, those exceptions are often the fuel that ignites these recalcitrant debates about sex when someone ‘discovers’ the exception and then claims it to be a new, profound revelation upending all prior knowledge. The odd exception to which I’m referring here is the colossal size of the fruit fly sperm. You probably didn’t know — few people do — that the tiny fruit fly, Drosophila bifurca, produces sperm that are 58 mm (~2.25 inches) long. That’s about 20 times longer than its entire body and over 300 times longer than a female’s egg is wide. In fact, these sperm are thought to be the longest sperm of any animal on the planet. So, I’m sure that at some point, someone will use this fact to argue against the large gamete/small gamete dichotomy between the sexes. It will be a silly argument, of course. I just want you to be forewarned.

The second point has to do with reptile sex determination. I have heard this phenomenon described inaccurately by people on both sides of the sex binary debate. It comes up almost as frequently as the clown fish analogy. Frankly, it’s a bit misleading to the lay reader to say that turtle (or alligator) sex is ‘determined’ by temperature. Although this is the common way it’s phrased in the biological literature, it should be made clear that sexual development in reptiles and amphibians is a product of the same types of genetic and physiological processes that operate in other animals. Saying that reptile sex is ‘determined’ by temperature makes it sound like the whole process is much more capricious than it is. While “a narrow range of incubation temperatures during a thermosensitive period of embryonic development” can affect the underlying genetic, physiological, and biochemical processes in ways that alter the sex ratios (i.e., the relative numbers of males and females) in a cohort, the most proximate causes leading to a turtle or alligator being male or female are physiological. In the end, it’s all genes, hormones, and molecules just like it is in other animals. And, the ultimate developmental outcome is binary.

The take-home message

So, here’s the upshot: You should just be you… and I’ll just be Frederick. We don’t need to ask flies, fish, or turtles for permission to be what we are, or what we hope to be… they’ve got their own problems to deal with. Capisci?

Epilogue

As I said in the previous essay, I have a deep understanding of, and great compassion for those people — which includes me — who don’t match the accepted stereotypes of any particular category or group. Over the years, I have been the target of what seemed to be an unrelenting stream of criticism for the fact that I was never (and still am not) perceived as representative of the norm (whatever that is). Consequently, I grew up defending those who were similarly targeted, and I believe that each of us should be continually mindful and accepting of the rich diversity of the human condition. Each of us should actively and consciously strive to be as compassionate, accepting, supportive and inclusive as we can. Denigrating, harassing or bullying anyone for any reason is reprehensible and unacceptable as far as I am concerned.

However, being open, kind, and accepting does not necessitate abandoning reason, turning our backs on biology, or unhinging ourselves from reality. Nor does it require us to entertain the arguments of those who do.

[eonars]

Been at nonstop lectures on mammalian female fertility and human female cyclicity and oocyte quality and increased risk of aneuploidy past a certain age and etc etc etc since Monday morning I'm here til Friday and I feel like I've just erased all the positive thoughts I'd scraped together about turning 30 in March just by being here 😭 I think I would want a baby someday but I'm surely some kind of unholy combo of ugly and unlovable and annoying bc despite 30 in March I've only ever really dated someone once and it was miserable and he thought I was annoying and weird. So I probably still have a lot of time left to waste with someone who doesn't like me or treats me bad because I'm naive and dumb and I'm being even more naive and dumb thinking I'll have enough time to get into a situation where a baby would be feasible or possible or a good idea. I'm gonna be pushing 40 still getting left on read and ghosted and the really visible pity I get from everyone around me who has someone already will be even more obvious. There's very obviously Something up with me that I've never been properly approached or organically met anyone or even gotten asked for my number or something and I don't even know what the something is so I can change it 😰 and the ones I've so desperately chased after cause I'm so stupid and full of wishful thinking have left my sense of self utterly cooked and left so much damage in their wake that now I'm coming up to the age my mom was when she had me and while I have everything else anyone could ever want I have my dream job and amazing friends and a fun interesting life I'm missing this ONE thing and have been missing it forever and will never have it so obviously it consumes me. And everyone around me can tell and treats me with these bizarre pity kid gloves but it's also like yeah no shit.....look at her...I'm surrounded by veterinarians and reproductive scientists and cell biologists here who all have tons of experience in reproductive biotechnology and I tell them I'm a fish biologist with no reproduction background I have my degrees in zoology and ecology I worked min wage before coming here to do this yeah I live alone no I've never used this protocol for preservation of genetic material before yeah its all brand new to me I previously worked in fish behavior and neurophysiology strictly and it's all pity pity pity pity

[twofacedtrickery]

You know, it's kind of wild how many aneuploidy conditions are viable in humans. In many species, any aneuploidy conditions are nonviable full stop. Most are nonviable in humans, as well, but still.

[bpod-bpod]

Miscounting Chromosomes

Egg cells or oocytes have unique characteristics that make them different from other cells. One of the main differences is the number of chromosomes – condensed structures of DNA. Most human cells have 46 – 23 pairs – but eggs (and sperm) have only 23. This number is critical because any more or less can lead to infertility and miscarriages. These errors occur during meiosis; specialised cell division that generates egg cells, and these errors become more common as women age, but we didn’t know why. By imaging oocytes from younger women (left) and older women (right), researchers have found that a protein called Sgo 2 (green) is vital to helping the chromosome pairs to line up correctly before being pulled apart by microtubules (orange). In older women, Sgo2 doesn’t localise to the right locations meaning that the chromosomes are not lined up correctly for the big divide, increasing the chances of older eggs not meeting that magic number of chromosomes.

Written by Sophie Arthur

Image from work by Bettina P Mihalas and colleagues

The Wellcome Centre for Cell Biology, Institute of Cell Biology, University of Edinburgh, Edinburgh, UK

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in bioRxiv, January 2023 (not peer reviewed)

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[sproutystudies]

Polyploidy

Hello, hello! Since my study species, cultivated strawberry, is a polyploid organism, my first educational post is on polyploidy.

While most animals are diploid, meaning that they have two sets of chromosomes, it is common for plants to have additional sets of chromosomes. When an organism has more than two complete sets of chromosomes, this is known as polyploidy. This can be contrasted to aneuploidy, which is when an organism has a loss or gain in chromosomes that results in one or more set being incomplete.

There are two main types of polyploids. Autopolyploids arise from genome duplication within a single organism or species (Lloyd & Bomblies, 2016). This can either occur from spontaneous whole genome duplication due to endoreduplication (mitotic failure) or from self fertilization following meiotic error. During mitotic failure, the genome is doubled in preparation for cell division but the cell fails to divide (Shu et al, 2018). During meiotic error, chromosome sets fail to segregate, leading to formation of an unreduced gamete (Spoelhof et al, 2017). Autopolyploids have increased vigor due to larger nucleus size and greater protection from recessive deleterious mutations, but they do not gain different genetic information like in allopolyploids.

Allopolyploids arise from hybridization between two closely related species (Lloyd & Bomblies, 2016). There can be variation in the steps to allopolyploid formation. Notably, an allopolyploid arising from genome duplication of a sterile hybrid can be called an amphidiploid, and an allopolyploid arising from two polyploid parents can be called an amphipolyploid. Allopolyploids have increased vigor for the same reasons as autopolyploids but also have the advantage of new alleles being introduced. As alleles on some chromosomes are lost or silenced over time, favorable alleles can be conserved through natural or artificial selection. The various advantages conferred by allopolyploidy are together known as hybrid vigor.

Cultivated strawberry is an allo-octoploid, meaning it has eight sets of chromosomes with variation in their species of origin. These chromosomes diploidize to form four sub-genomes, known as sub-genome A-D. This means that most genes exist in quadruplicate. A gene in one sub-genome is known as a homeologue of its counterparts in other sub-genomes. The term homeologue is derived from the term homologue, which refers to genes with a shared origin.

Cultivated strawberry is also an amphipolyploid, as it arose from hybridization of two octoploid parents (Edger et al, 2019). Each of these parents originated from four diploid progenitors (Edger et al, 2019). These progenitors are believed to be F. iinumae, F. nipponica, F. vesca, and F. viridis (Edger et al, 2019). The genomes of each of these progenitors form the sub-genomes of the octoploids.

Figures in this post are from Hegarty & Hiscock, 2008. The strawb picture is my own.

Important Terms: polyploidy, aneuploidy, autopolyploid, allopolyploid, endoreduplication, unreduced gametes, alleles, homeologues, hybrid vigor

When the Winter quarter starts I plan to make these educational posts a weekly thing, largely to help prepare for my qualifying exam, but hopefully they will be useful to others as well. If there are topics related to my studies that are particularly interesting to anyone, feel free to reach out so I can prioritize them :)

[vampacidic]

talking about aneuploidy in bio. talking about down syndrome. anywya. obsessed w the girl who then went 'what about asperger's? is that a trisomy?'

[madamepestilence]

this is the absolute dumbest proposal ive ever seen

first of all, this counts as sexual discrimination, and is therefore illegal in the United States and unenforceable for employees under Title VII of the Civil Rights Act of 1964 (and this extends to businesses with less than 15 employees in several states, and it has also been held up in both federal courts and agencies that this extends to discrimination regarding someone's sexual orientation or gender identity, as this is based on their sex), and the Equal Employment Opportunity Commission also holds that this applies to customers

secondly, these head-to-toe examinations would require sexual harassment (also protected under Title VII of the Civil Rights Act of 1964), as it would require customers to strip for full examination, and this would also require licensed medical professionals (a Primary Care Provider who is a doctor, nurse practitioner, or a physical assistant) to be on staff, which has a range of $166,505 - $231,609 annually

thirdly, fucking nobody is going to wait 2-4 months for a DNA analysis in a laboratory (that customers have no guarantee of being a real laboratory, not to mention would require them to sign waivers giving the laboratory permission to view their medical documents and medical history) just to have a drink

fourth, sex is a lot more complicated than "46,XX girl, 46,XY boy" - the Association for X and Y Chromosome variations openly tells people about the trisomy (47,XXY ; 47,XXX ; 47,XYY), tetrasomy (48,XXYY ; 48,XXXY ; 48,XXXX), and pentasomy (49,XXXXY ; 49,XXXXX) combinations, as well as Turner Syndrome (45,X), and that 20% of people with sex chromosome aneuploidy have mosaicism (two or more cell lines with different genetic signatures), of which they provide the example combinations of 46,XY/47,XXY and 45,X/47,XXX - and there are also 46,XX gonadal dysgenesis, 46,XY gonadal dysgenesis, and 46,XX male syndrome, and this isn't even taking into account chromosome malformations and chimeras who absorb their twin, nor the fact that sex is not entirely dependent on chromosomes and also varies with genital development and hormones, and this also ignores the fact that human bodies produce more testosterone than estrogen, and that the body literally converts testosterone into estrogen if it has too much testosterone or can't make use of it (which is why you can develop gynecomastia from taking testosterone supplements) - and this would require a genetic profile test, which ranges from $1,000 - $2,500

the whole x-rays thing is absolutely batshit, because the size of someone's hips and shoulderblades doesn't actually accurately determine someone's sex, and has a lot of variation in humans, not to mention this ignores the presence of medical disorders that may cause different bone development like dwarfism or scoliosis putting different pressures on the spinal cord that leads to abnormal bone fusing, and the bar would have to sink $35,000 - $200,000+ to purchase an x-ray machine, and they would need a licensed radiologist for accurate x-ray reading, who would have a salary of $386,090 - $513,690

so, yea, good look making a scientifically unsound bar that violates employment and sexual harassment law, needs at least 2-4 months before you even receive your first customers, costs $200,000 to start (not even including building prices), and sinks a loss of roughly $745,500 annually, not including building costs, and assuming you only have one customer to afford a genetic profile test for

Many of you might be unaware but if you’re a transphobe there’s a 98.7% chance that your brain is replaced with mushy peas within the first five years.

[insightfulblogz]

Non-Invasive Prenatal Testing (NIPT) Market Trends, Growth, Top Companies, Revenue, and Forecast to 2032

Non-Invasive Prenatal Testing (NIPT) has transformed prenatal care by providing accurate, risk-free genetic screening for expectant mothers. This advanced screening method analyzes cell-free fetal DNA (cffDNA) present in the mother's blood to detect potential chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). NIPT offers a safer alternative to invasive diagnostic procedures like amniocentesis, which carry risks of miscarriage. With its high accuracy and non-invasive nature, NIPT is becoming a standard part of prenatal care, ensuring early detection and better decision-making for expectant parents.

The popularity of NIPT has been driven by advancements in genomic sequencing and bioinformatics technologies. As its capabilities expand, NIPT now provides insights into sex chromosome disorders and microdeletions. Its adoption has been bolstered by increased awareness among healthcare providers and expectant parents, as well as growing availability across healthcare systems worldwide. By offering peace of mind and actionable information early in pregnancy, NIPT has set a new benchmark in maternal-fetal medicine.

The Non-Invasive Prenatal Testing (NIPT) Market is expected to reach USD 17.75 Bn by 2031 and was valued at USD 6.4 Bn in 2023, and grow at a CAGR of 13.6% over the forecast period of 2024-2031.

Future Growth

Increasing adoption of NIPT in low-risk pregnancies as testing costs decline.

Advancements in next-generation sequencing (NGS) technologies to enhance accuracy and expand testing scope.

Rising demand for comprehensive panels that include microdeletions and single-gene disorders.

Integration of artificial intelligence (AI) to improve data analysis and result interpretation.

Expansion of NIPT in emerging markets due to greater awareness and healthcare accessibility.

Regulatory approvals and insurance coverage expansion driving accessibility.

Emerging Trends

NIPT is evolving beyond chromosomal anomaly detection, with emerging trends focusing on broader applications and enhanced precision. Research is underway to include rare genetic conditions and polygenic risk scores, enabling more comprehensive fetal health assessments. Liquid biopsy techniques are being refined to improve the sensitivity of detecting even minor genetic anomalies. Additionally, personalized prenatal testing is gaining momentum, tailoring the test scope to individual risk factors. These trends are set to expand the role of NIPT from a screening tool to a cornerstone of precision medicine in maternal care.

Applications

NIPT is primarily used for early detection of chromosomal abnormalities in the fetus, offering expectant parents critical insights into their baby's health. It is widely applied in pregnancies considered high-risk due to advanced maternal age, family history of genetic disorders, or abnormal ultrasound findings. Beyond aneuploidy screening, NIPT is now being explored for its ability to detect sex chromosome abnormalities, microdeletions, and other single-gene conditions. Its non-invasive nature makes it an appealing option for prenatal care, reducing the reliance on invasive diagnostic procedures.

Key Points

Non-Invasive Prenatal Testing (NIPT) is a safe, highly accurate method for detecting fetal chromosomal abnormalities.

It eliminates the risks associated with invasive procedures like amniocentesis.

NIPT is expanding to include conditions such as microdeletions and single-gene disorders.

Advanced sequencing and bioinformatics technologies are enhancing the precision of NIPT.

Applications range from routine prenatal care to high-risk pregnancies.

Conclusion

Non-Invasive Prenatal Testing has revolutionized prenatal care by enabling early, accurate, and risk-free genetic screening. As technological advancements and research broaden its scope, NIPT is becoming an indispensable tool for maternal and fetal healthcare. With increasing adoption, greater accessibility, and ongoing innovation, NIPT is poised to shape the future of prenatal diagnostics, empowering families and healthcare providers with critical insights for a healthy pregnancy.

Read More Details: https://www.snsinsider.com/reports/non-invasive-prenatal-testing-market-3391 

Contact Us:

Akash Anand — Head of Business Development & Strategy

Email: info@snsinsider.com

Phone: +1–415–230–0044 (US) | +91–7798602273 (IND) 

[dpuhospitalblogs]

The Role of Genetic Testing in IVF and Why It Matters

In vitro fertilisation (IVF) has provided hope to countless couples wishing to start a family but who face challenges with conception. One of the more recent advances in IVF is genetic testing, a step that can make all the difference for couples seeking a safe, healthy pregnancy. Genetic testing works hand-in-hand with IVF to increase success rates, reduce the chances of genetic diseases, and boost overall outcomes. For those considering treatment at the best IVF centre in Pune and other places, understanding the role and significance of genetic testing is essential.

What is Genetic Testing in IVF?

In the simplest terms, genetic testing in IVF examines the embryos created through fertilisation to check for genetic abnormalities. Before the embryo is implanted in the uterus, a few cells are tested to detect any genetic issues that could affect the child’s health or prevent pregnancy altogether. This early detection can help avoid certain genetic conditions, offering parents reassurance and a healthier start for their child.

Two main types of genetic tests are commonly used in IVF:

PGT-A (Preimplantation Genetic Testing for Aneuploidy): This test examines the number of chromosomes in an embryo. A typical healthy embryo has 46 chromosomes, and anything more or less can lead to developmental issues or miscarriage. PGT-A is particularly beneficial for older couples, those with a history of miscarriages, or couples who have experienced unsuccessful IVF cycles.

PGT-M (Preimplantation Genetic Testing for Monogenic Diseases): This test screens for specific genetic disorders, such as cystic fibrosis or Tay-Sachs disease, which could be passed from one or both parents. Couples with a family history of genetic disorders find this testing invaluable as it reduces the risk of passing down certain inherited conditions.

Why Does Genetic Testing Matter in IVF?

Genetic testing matters because it brings a level of assurance and peace of mind to a journey that can be both emotional and uncertain. Here’s why it plays such a vital role in the IVF process:

Higher Success Rates

One of the biggest advantages of genetic testing is that it increases the likelihood of a successful pregnancy. Since the test screens embryos for genetic abnormalities, only the healthiest embryos are selected before they are transferred to the uterus. This reduces the chance of implantation failure, leading to higher success rates for couples. 

Reducing the Risk of Genetic Diseases

Genetic testing can help parents identify embryos that might carry specific genetic disorders, like haemophilia or muscular dystrophy. This is especially important for couples who know they carry certain genetic traits. By selecting embryos free from these disorders, genetic testing can help parents reduce the risk of passing on these conditions, giving them peace of mind about their child’s health and future.

Conclusion

When it comes to IVF, genetic testing plays a crucial role in ensuring the best possible outcomes. It offers couples the chance to minimise the risks of genetic diseases, reduce the likelihood of miscarriage, and experience a healthier, safer pregnancy. 

While it may not be essential for everyone, genetic testing provides an added layer of security that many find invaluable. As you explore your options, the best IVF centre in Pune and elsewhere will guide you through these choices, helping you understand how genetic testing can support your path to parenthood.

[religion-is-a-mental-illness]

By: Colin Wright

Published: Feb 8, 2024

Biology is under siege from activists trying to undermine our long-established, universal understanding of what constitutes male and female organisms. These are not merely cloistered academic debates; this ideologically motivated pseudoscience is having a profound impact on society. It affects the existence of female-only spaces such as bathrooms, dressing rooms, rape shelters, and jails/prisons, as well as the safety and fairness of female-only sports leagues and events. It also shapes the debate over “gender-affirming care,” which seeks to alter the bodies of sex-nonconforming children so that their physical features align with their self-proclaimed “gender identity.”

Biological science, however, is firmly on the side of the sex realists. The setbacks this side has experienced in recent years owe not to the weakness of its arguments but to the climate of fear pervading academia, which silences dissent. Those who challenge gender ideology’s prevailing narrative—namely, that biological sex is a social construct or exists on a spectrum—are often targeted, harassed, and publicly branded as “transphobic” bigots. Proponents of gender ideology understand that the biggest threat to their movement is open and honest debate. This is why, for the past five years, I have dedicated myself to educating the public on this topic, and openly engaging with gender ideologues whenever possible.

Last month, such an opportunity presented itself. Ian Copeland, who describes himself as a “Ph.D.-level geneticist,” though he has not published any peer-reviewed scientific work, announced that he would host an event on X Spaces to defend the view that “sex is not binary.” Copeland made this announcement after posting various misleading statements about sex biology on X. For instance, he asserted that “Sex (like all traits) is not binary” and that “All traits are on a spectrum.” He seemed to think that a BBC Earth article discussing the sex-changing abilities of a species of fish, the Asian sheepshead wrasse (Semicossyphus reticulatus), supported his claims. He also stated that “sex is a genotype classification,” arguing that the existence of sex chromosome aneuploidies (atypical combinations of sex chromosomes other than XX and XY) proves the nonbinary nature of biological sex.

The X Spaces event, titled “Bring the Facts: Sex Is Not Binary, Sorry to Burst Your Bubble . . . ,” was scheduled for January 19 at 3:45 p.m. I joined the moment that it opened to request a speaking slot, ensuring I was not far back in the queue. My promptness paid off: I was the first to address Copeland’s deep misunderstandings about the biology of sex.

My primary goal in public debates like these is not necessarily to convince my opponents of their error, though such an outcome would be welcome. Rather, my aim is to demonstrate to the audience what honest truth-seeking sounds like by presenting my arguments as honestly, clearly, and calmly as possible. I believe that observing the stark contrast between a genuine academic and a radical activist can be a powerful means of persuading the openminded.

I began the debate by explaining the biological perspective on why “sex is binary,” and what this phrase signifies. In essence, “sex is binary” refers to there being only two sexes, which are defined by the type of gamete an organism has the function to produce. Males have the function of producing sperm, and females, ova. Sex ambiguity (that is, “intersex” conditions) does not constitute a third sex, as these conditions do not lead to the production of a third type of gamete.

Copeland did not dispute any of this. Yet he insisted that “genetic sex” is not binary, citing the existence of other sex chromosome compositions beyond XX (female) and XY (male), such as X0 (Turner syndrome), XXX (Triple X syndrome), XXY (Klinefelter syndrome), XYY (Jakobs syndrome), and so on. He claimed that if an organism’s “genetic sex” is defined by their sex-chromosome composition, then there must be more than two sexes.

This argument, seemingly logical on its face, stems from a common yet fundamental misunderstanding of what sex is and what geneticists mean by “genetic sex.”

Put plainly, “genetic sex” is a misnomer. While the term is frequently used in medical and scientific papers, government health websites, medical centers, and even by popular human-ancestry companies like 23andMe, “genetic sex” is not a distinct type of sex at all; it is a convenient term or shorthand to denote that a person or cell contains the sex chromosomes that typically cause a male or female to develop. For a geneticist, knowing this about a cell or cell culture might be useful if he is investigating sex differences or wants to control for cellular sex differences as a potential confound in an experiment. Medical professionals often describe sex in multifaceted terms because examining a person’s chromosomes, hormones, genitals, and gonads, and their alignment, aids in diagnosing potential issues along this biological chain. For example, if you’re a male suddenly stricken with abnormally low testosterone, this may be indicative of hypothalamic or pituitary abnormalities, or even testicular cancer. Conversely, abnormally high testosterone in females may by indicative of ovarian cysts. The use of terms like “genetic sex,” “hormonal sex,” and “genital sex,” is driven by practicality, not because they represent legitimate, separate types of sex.

“Genetic sex” is not an alternative type of sex. “Sex” refers only to the type of gamete an organism has the function to produce. This becomes obvious when we look at other animals, such as turtles, that do not use chromosomes to guide their sex development. The sex of green sea turtles (Chelonia mydas) is determined by temperature. Eggs incubated below 27.7°C develop into males, and eggs incubated above 31°C develop into females.

Discussing humans as having a “genetic sex” that’s equivalent to their sex based on gametes is as illogical as referring to turtles as having a “temperature sex” distinct from their actual sex. We may use terms like “male temperatures” for those under 28°C and “female temperatures” for those over 31°C as shorthand for “temperatures that typically lead to male or female development,” but there’s nothing inherently “male” or “female” about these temperatures. A turtle’s sex is ultimately defined by the gamete it has the function to produce, not the temperature of its early days in the egg. For instance, if a female turtle popped out of an incubator set below 28°C, we wouldn’t say that she has a female “gametic sex” and a male “temperature sex.” She would simply be female, and the researchers would likely be intrigued to learn how she developed at a temperature typically associated with male development.

In a similar vein is the Blue Groper (Achoerodus viridis), a fish species characterized by blue males and brown females. In the field, it may be useful for researchers to use color as a quick and accurate proxy when recording a fish’s sex. But it would be incorrect to claim that Blue Gropers have a “color sex,” as there is nothing inherently “male” about being blue or “female” about being brown. Being male or female causes color dimorphism in Blue Gropers, not the other way around. 

Chromosomes in humans and color in fish can serve as operational definitions of sex, but they are neither the essence of sex nor an alternative type of sex. The association of Y chromosomes with human males and the link between color and sex in Blue Gropers are known precisely because sex is a trait distinct from chromosomes or color.

The philosopher of science Paul E. Griffiths makes the same point in a 2021 paper titled “What Are Biological Sexes?”

Biologists know which chromosome pairs are “male” or “female” because they know which animals are male or female, using the gametic definition. . . . The same problem defeats any attempt to define sex in terms of phenotypic characters. . . . Something gets to be a “male” or “female” characteristic in a particular species because it is common in males or females in that species: sexual characteristics are defined by sexes, not the other way around. Like chromosomal definitions of sex, phenotypic definitions are not really “definitions”—they are operational criteria for sex determination underpinned by the gametic definition of sex and valid only for one species or group of species.

This is the fundamental point that Copeland and many others who use the term “genetic sex” fail to grasp. “Genetic sex” is nonsensical because it requires the primacy of the gametic definition of sex.

Despite my efforts to guide Copeland through this logical reasoning, he ultimately refused to acknowledge it. His only defense was that certain medical bodies use the term “genetic sex,” so it must be legitimate. However, this is simply an argument from authority. Furthermore, the popularity of a term is irrelevant to the truth. My reference to Griffiths above is not to counter Copeland’s authority with another authority; that’s not how science operates. Anyone can find a peer-reviewed scientific paper, or a Ph.D. holder, to support his desired beliefs. Instead, we must make arguments and cite sources rooted in evidence and that make the most logical sense.

The prevalence of the term “genetic sex” among scientists, medical organizations, and in genetics textbooks does not establish its validity as a type of sex on par with the gametic definition. I hope this helps put the “genetic sex” myth to rest.

[culturesingularity]

So then... what kinds of sex chromosome aneuploidies do they have?? Ay yi yi

What the fuck

[geneticteacher123]

Mitotic Catastrophe, is a malfunction of any checkpoints at G1-Phae, S-Phase, G2-Phase and M-Phases of the cell cycle, so it defines as the failure to arrest the cell cycle before or at mitosis resulting abnormal chromosome separation, which leads to generate aneuploidy cells (cell containing abnormal chromosome numbers), thus, mitotic catastrophe may be regarded as one of the mechanisms contributing tumor cell development #geneticteacher

[industrynewsupdates]

Key Trends Driving the Preimplantation Genetic Testing Market

The global preimplantation genetic testing (PGT) market was valued at approximately USD 802.2 million in 2023 and is projected to expand at a compound annual growth rate (CAGR) of 10.3% from 2024 to 2030. Several factors are contributing to this growth, notably the rising prevalence of genetic disorders such as single gene, mitochondrial, and other hereditary conditions. As awareness of genetic risks increases, there is a growing demand for preimplantation diagnosis and screening processes to ensure healthier pregnancies and reduce the risk of passing on genetic diseases.

For example, the Florida Department of Health reports that one in every 33 babies in the U.S. is born with a congenital disability, which affects approximately 120,000 babies each year. These statistics highlight the importance of genetic testing, as more families seek options to prevent the transmission of such disorders. As advancements in genetic testing continue, the demand for preimplantation genetic testing is expected to increase. For instance, in July 2023, Thermo Fisher Scientific Inc. launched two new Next-Generation Sequencing (NGS)-based tests specifically designed for preimplantation genetic testing for aneuploidy (PGT-A). This addition reflects the continued innovation in the field and its potential to drive market growth in the coming years.

Preimplantation genetic diagnosis (PGD) plays a critical role in the in vitro fertilization (IVF) process, particularly for individuals or couples with a history of miscarriages or those who have experienced pregnancies involving chromosomal abnormalities. PGD is typically used in IVF cycles to help ensure a successful pregnancy by identifying embryos that do not carry genetic disorders or chromosomal abnormalities. This testing is especially beneficial for couples who are at risk for hereditary genetic disorders, offering them a chance to have a healthy child and preventing the transmission of genetic diseases.

Gather more insights about the market drivers, restrains and growth of the Preimplantation Genetic Testing Market

Regional Insights

North America accounted for a significant share of the global preimplantation genetic testing (PGT) market, driven by a combination of factors such as the rising prevalence of various genetic disorders, increasing number of laboratories offering PGT services, and heightened awareness of genetic screening. The market is also buoyed by a high incidence of hereditary disorders and other common diseases, such as Polycystic Ovary Syndrome (PCOS) and chlamydia, which further increase the demand for genetic testing. The adoption of advanced reproductive technologies, such as in-vitro fertilization (IVF) with PGT to prevent genetic disorders, has significantly contributed to the growth in this region.

U.S. 

In the United States, the PGT market is witnessing steady growth, fueled by increasing awareness about hereditary disorders, advancements in reproductive technologies, rising infertility rates, and a growing preference for personalized medicine. Moreover, supportive government regulations and a high demand for IVF procedures have further driven market expansion. As more individuals seek fertility solutions that enable them to have healthy offspring, the demand for PGT services is expected to increase, contributing to the overall growth of the market in the U.S.

Europe 

Europe dominated the global PGT market in 2023, accounting for 40.74% of the total revenue share. This leadership is primarily driven by a high volume of IVF procedures, which have been increasingly adopted due to the trend of late pregnancies among women in Europe. Additionally, the liberal regulations surrounding aneuploidy screening in many European countries, coupled with the presence of established market players and healthcare providers, are helping to propel the growth of the PGT market in the region.

The UK market for preimplantation genetic testing is also expected to see significant growth due to government policies that support IVF, along with funding initiatives and a rising demand for personalized medicine. These factors, combined with better IVF success rates, will drive the adoption of PGT solutions across the country.

In Germany, the PGT market is set for growth as increasing public awareness about genetic disorders and the benefits of PGT is prompting more couples to opt for genetic testing before pregnancy. As these trends continue, Germany will see continued market expansion.

Asia Pacific 

The Asia Pacific region is poised to register the highest CAGR of 11.3% during the forecast period. This growth is fueled by advancements in reproductive technology, expanding healthcare accessibility, and a greater awareness of PGT across the region. Countries like China and Japan are leading the way in the integration of advanced genetic testing technologies within reproductive health practices, helping to boost the demand for PGT services.

In China, the growing burden of genetic diseases and a large population with significant hereditary disorders are driving the demand for preimplantation genetic testing. With a high adoption rate of IVF procedures, the need for PGT to ensure healthy births by selecting embryos free of genetic mutations is expected to fuel market growth.

Similarly, Japan is seeing increasing demand for PGT due to technological innovations in genetic testing and heightened awareness of the benefits of genetic screening. These factors, combined with an increasing number of couples opting for assisted reproductive technologies, will contribute to the growth of the PGT market in Japan.

Latin America 

The Latin American market for preimplantation genetic testing is expected to experience substantial growth, primarily driven by increasing awareness of genetic disorders. As people become more educated about the risks of hereditary diseases, the demand for proactive genetic testing during family planning is expected to rise.

In Brazil, the market is poised for significant growth due to the entry of new providers and the introduction of advanced genomic technologies. These innovations are enhancing the accuracy and range of conditions that can be screened through PGT, expanding the market's potential in the country.

Middle East and Africa (MEA) 

In the MEA region, the preimplantation genetic testing market is also expected to grow significantly, driven by increasing awareness of the importance of genetic screening and diagnosis. The region has seen a positive shift in attitudes toward hereditary diseases, with more people recognizing the benefits of PGT.

The UAE is experiencing growth in the PGT market, supported by a cultural shift toward acceptance of advanced medical technologies. As social attitudes evolve positively toward genetic testing, Emiratis and expatriates alike are more likely to consider PGT for family planning. This change is further supported by an increasingly progressive healthcare infrastructure that facilitates the adoption of innovative medical technologies.

In Kuwait, technological advancements in hereditary testing technologies are driving the growth of the PGT market. Enhanced accuracy and reliability in genetic testing are contributing to better outcomes for couples undergoing assisted reproductive treatments, thereby boosting demand for PGT services.

Browse through Grand View Research's  Clinical Diagnostics Industry Research Reports.

• The tissue diagnostics market size was estimated at USD 8.72 billion in 2024 and is projected to grow at a CAGR of 8.41% from 2025 to 2030.

• The global ovarian cancer diagnostics market was valued at USD 4.60 billion in 2023 and is expected to grow at a CAGR of 5.0% during the forecast period.

Key Preimplantation Genetic Testing Company Insights

Several key players dominate the global preimplantation genetic testing (PGT) market, including Quest Diagnostics Incorporated, Natera, Inc., and Illumina, Inc. These companies are driving innovation and expanding their reach through a variety of strategies, such as new product launches, strategic acquisitions, and partnerships with healthcare providers.

• Illumina, Inc. is a leading player in the genomics and sequencing industry, providing advanced tools and technologies that enable the accurate analysis of DNA. Their solutions are widely used across healthcare, agriculture, and scientific research, helping to drive advancements in personalized medicine and genetic testing.

• Quest Diagnostics Incorporated is a major medical diagnostics company that offers clinical testing services, including gene-based testing, routine testing, and drugs-of-abuse testing. Their services are critical for healthcare providers, and their global presence, including in Mexico, India, Ireland, and the UK, enhances their capacity to serve diverse markets. Their diagnostic laboratories are key partners in expanding access to PGT and other advanced testing technologies.

Key Preimplantation Genetic Testing Companies:

The following are the leading companies in the preimplantation genetic testing market. These companies collectively hold the largest market share and dictate industry trends.

• Quest Diagnostics Incorporated

• Natera, Inc.

• COOPER SURGICAL, INC.

• Genea Pty Limited.

• Invitae Corporation

• Laboratory Corporation of America Holdings

• Thermo Fisher Scientific Inc.

• Bioarray S.L.

• Illumina, Inc.

• Igenomix

• RGI

• F. Hoffmann-La Roche Ltd

Order a free sample PDF of the Preimplantation Genetic Testing Market Intelligence Study, published by Grand View Research.