#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

[cripplecharacters]

I write fanfic, and have some concerns about MC's baby. Baby (Hope) was made in lab and has genetic differences. Currently, I consider something like Down Syndrome?

~

Background:

In canon: character mourning his best friend (an alien), and try to clone him. (Alien later later in story come back to life)

My thoughts: When you clone someone, but use DNA from 2 people, it's actually a baby...

Since they are different species, I consider having their child being either triploid (3x chromosomes) or tetraploid (4x).

Which can be genetic issues. And disabilities. I sort of base on Down Syndrome, but also different.

~

Things I thought issues:

1. Should I just have the kid have Down Syndrome? At least it's familiar, and unrepresented. But also DS is only 3rd 21 chromosome, not all chromosoms are 3.

2. Issue about the kid being a baby. Since initialisation is a big problem for ppl w disabilities, DS especially.

3. Dad 1 (the scientist) has a "what have I done" moment. It's before the beby is born, and before her differences are showing, but can be problematic. I try make it clear this is problem bc Dad goes 1) my dead friend didn't agree, 2) i shouldn't make a kid, 3) I'M HAVING A BABY!?!?

4. Also, I don't know if there's problem with "made in lab and different"? (Like it's "punishment", or something about mutations? Idk I'm not from USA nor Christian, but I know people who are has weird issues).

To be clear, both dads love their kid. They call her their light and "our little miracle". Though can also be issue?

Thank you!! I hope it make sense?

Hi!

First, I want to clarify some points from a biology perspective:

Humans are really bad at handling the wrong amount of DNA, and really bad at cross breeding with non-hominids.

A cross-breed between two species with different numbers of chromosomes may or may not be viable (best chance is when the species are closely related), but the hybrid is nearly always sterile.

A haploid (1x) from each parent can make a new human. Most organisms also work this way. But some organisms produce sex cells with multiple copies of the genome--for example melons can be made to have 2x seeds.

Aneuploidy (3x or 4x) is lethal to most species. Some (plant) species are more resistant, but still sterile--a normal 2x melon and a 4x melon produce a seedless 3x melon, for example.

Monosomies and trisomies are not always fatal, as evidenced by Down Syndrome among other chromosome disorders.

If you want to follow biological constraints, I think having Hope be a hybrid is not the best choice.

But you can do whatever you want, and model off of any chromosomal disorder you want, since you're dealing with fantasy biology.

I think the most important/constant aspect of chromosomal disorders is intellectual disability. Hearing and vision loss are also very common.

Infantilization is not so much a worry with an infant character. It's okay to have children in a story. It becomes infantilization if the character is routinely treated as far younger than their age.

I don't think being made in a lab is a problem. Genetic disorders happen, whether chromosomes are combined in a lab or in a body.

And I also think it's normal for your character to have all sorts of emotions about having made a new person. Just like when someone is pregnant. You're clearly showing it as his complex emotions regarding his actions, not disdain for baby Hope.

Mod Rock

[petalsinfall]

I don't expect you to be smart but the ignorance you have is astounding. I was trying to help you out. Someone in your comment literally said "lol anything between 30 to 40 is fine" and you said "thats not the case for everyone" so you seriously believe you and your spouse will 100% have the best genetics at that age with no aneuploidies, no gestational DM, no hpertensive disorders etc. You can search the internet and see all the medical records and books and you'll see who's right. Sometimes acknowledge that others can be right and the whole universe doesn't revolve on your gaze.

you sound like the ignorant one here

I’m asked questions and I answer, you’re the only one that’s upset about this🧿

[cupcraft]

The whole discussion of sex and science is even more complicated when you realize a majority of science papers don't use cell lines of multiple sexes (let alone karyotype them because aneuploidies are inevitable and probable with frequent culturing) and they may not even know the sex of the cell line. And then you get to animal studies and a lot of papers only use male mice or only use female mice and if they use both they never analyze or stratify by sex. Then you have clinical trials which notably have gotten better in its diversity but still Is lacking (and they lack analysis by sex). It's really just one big understudied section of things which is why I'm very passionate about studying it. Even in embryonic development sex remains understudied, though it's studied more than perinatal/adulthood.

[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

[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 :)

[aqlstar]

Anyone who took AP high school biology should be able to tell you that

Although the cell cycle, mitosis, and meiosis are highly regulated to prevent errors, the processes are not perfect. One example is the failure of homologous chromosomes or sister chromatids to separate properly during meiosis I or meiosis II (a phenomenon referred to as nondisjunction). This results in gametes with too many or too few chromosomes. Disorders in chromosome number (aneuploidy) are typically lethal to the embryo, although a few trisomic genotypes are viable (e.g., Down syndrome). Because of X inactivation, aberrations in sex chromosomes typically have milder phenotypic effects (e.g., Turner syndrome) than aneuploidy.

This is basic empirical science. It is not a social construct; it is not in any way political.

There are hundreds of thousands of Americans with sex chromosomes other than XX and XY, or with mosaic sex chromosomes.

Literally sobbing. A judge, a US judge defended us. A judge brought up intersex people, uaing the term intersex, to *defend* us by not allowing our erasure. I'm having a lot of feelings right now

[nursingwriter]

Reproductive Counseling Studies have shown that the mean maternal age of motherhood has been increasing since 1980, which although may suit many modern careers and life styles, it puts women at a greater risk of declining fertility. The fundamental manifestation of ovarian aging is not just because of a decrease in the number of oocytes, but also because of a decline in its quality. Moreover, women of advanced maternal age are at a greater risk of developing aneuploidy in embryos. This contributes to their inability to bear a child by increasing both implantation loss and pregnancy failure. (Judy et al., 2012) In Vitro Fertilization, IVF is one of the forms of assisted reproductive technology that enhances the chances of conception. In IVF, ovaries are stimulated to produce mature oocytes which are retrieved transvaginally under sonographic guidance. Oocyte retrieval is normally an outpatient procedure, performed with adequate analgesia. The sperm and ova are then combined in vitro to prompt fertilization. If viable embryos are made, they are transferred transcervically in to the endometrlal cavity. (Monga, 2008) Ovarian stimulation for IVF is achieved by daily injections of gonadotrophins. The injections are continued for 11-14 days until the lead follicles are at least 18 mm in diameter on a transvaginal ultrasound. Once the ovaries have been stimulated to produce follicles, hCG is used to cause ovulation. (Monga, 2008) The main factors which contribute to the outcome of in vitro fertilization are maternal age and ovarian function. The data available in the National summary and fertility clinic reports, from 2009, show that women between 38 to 40 years of age have a 21.1% chance of a live birth from IVF. This is considerably lower than for women who are under 40 years of age, at which time, the percent of live birth from IVF can be as great as 40.5%. Subsequent IVFs may increase the chance of conception. (Bauer, 2011) Although success rates have made this technology a quick first line resort for clinicians and patients, there are possible risks that are associated with assisted reproductive techniques like IVF. The most significant complications are ovarian hyperstmulation syndrome and multiple pregnancies. Ovarian hyperstmulations syndrome causes ovarian hypertrophy which could result in ascites, pleural and pericardial effusions. The risk of multiple pregnancies increases the risk of pregnancy loss, obstetrical complications and neonatal morbidity. (Monga, 2008) Current procedure modifications of IVF include in-vitro egg maturation, pre-implantation genetic testing, single embryo transfer and oocyte freezing. This increases the chance of conception and therefore, reduces the cost due to multiple attempts. Oocyte freezing eliminates the need for repeated hyperstimulation. (Goldberg, 2007) Donor insemination is an option for single women wanting to become a parent, as in this case. This treatment is undertaken in clinics that are licensed by the Human Fertilization and Embryology Authority. Before proceeding with this technique, the woman needs to be fully investigated for patency of Fallopian tubes and her capacity to ovulate, either spontaneously or with stimulation. (Monga, 2008) There are two types of inseminaton options: intra-cervical or intra-uterine. In both forms, a prepared semen specimen is required from a donor. In intra-cervical insemination, donor semen is deposited in the cervix, while intrauterine insemination is performed using an intrauterine catheter with a 1 or 2 ml syringe. The catheter is then gently passed through the cervical canal and a sperm suspension is expelled into the uterine cavity. (Monga, 2008) Donor insemination, together with ovarian stimulation, is a simple and inexpensive treatment of subfertilty. The chances of conception per cycle have varied between 8 to 22%. There are certain factors that have an impact on the outcome of this procedure, for example, the maternal age, duration of subfertility and its cause. (Bauer, 2011) Multiple births are common with in-vitro fertilization and donor insemination. (Judy et al., 2012) The rates of multiple gestations after in vitro fertilization in Europe and the United States are 26.4% and 35.4%, respectively. (Bauer, 2011) This can be reduced by transferring lesser number of embryos. This, however, reduces the odds of conception. (Judy et al., 2012) Surrogacy may be another option for certain women. In this form of assisted reproduction, a donor egg is used with the commissioning father's sperm or a donor sperm may be used with the commissioning mother. Embryos are then fertilized in-vitro and transferred to the uterus of a surrogate host. (Monga, 2008) The indications for this treatment include absent uterus, recurrent miscarriage, repeated failure of IVF and certain medical conditions. Clinical pregnancy rates are up to 40% per transfer and series have reported 60% live births. (Bauer, 2011) However, there are certain problems that could arise during this treatment which need to be discussed with couples during counseling. The most common of these issues regards the custody of the child. Most legal laws deny the surrogate parental rights, unless if the surrogate has contributed to the child's genetics. The surrogate may also attempt to seek custody, regardless of any genetic relationship, if the child's security is questionable at the hands of the parents. These laws may differ for different states and couples need to be informed of them, in order to alleviate anxiety. (Echols, 2010) The commissioning woman may also respond poorly to follicular stimulation. This is usually more common in women who have had a prior hysterectomy. In cases where women cannot ovulate, the surrogate's ovum is used for fertilization. In such scenarios, the surrogate becomes genetically related to the child and legal implications regarding custody can become much more complicated. (Echols, 2010) Child adoption is usually the last resort for most parents undergoing treatment for infertility. In a study conducted by Adewummi et al., (2012), 42.6% of couples were willing to adopt only if their infertility became intractable. Cultural reasons and family constraints are dominant reasons for unwillingness to adopt amongst most parents. Other issues related to adoption are health related, for example, a child may have an undocumented disease, such as AIDs. However, adoption is a wonderful option for couples who are unable to afford fertility treatment. A background investigation on the child's biological parents and work-up of any health condition can eliminate health related issues. Counseling sessions regarding infertility demand that the patient, or couple, seeking treatment, take time to carefully consider the pros and cons to each option before making a decision. It would also be appropriate to provide the patient with a contact number through which they may be able to contact incase of any further questions that they may have during their decision making process. The patient also needs to be assured of complete confidentiality. Advice regarding support groups may also be provided. Here the woman will be able to discuss her concerns and gain encouragement from other couples of women who have gone through similar situations. Being a nurse, I would also provide the patient with my professional opinion, which would be to try IVF first and keep surrogacy as a last option. IVF may also be tried a few times before considering surrogacy or adoption. REFERENCES: Adewumi, A., Etti, E., Tayo, A., Rabiyu, K., Akindele, R., Ottun, T., & Akinlusi, F. (2012). Factors associated with acceptability of child adoption as a management option for infertility among women in a developing country. International Journal of Women's Health, 5, 365-372. doi: Pubmed Bauer, U. (2011, Nov). 2009 assisted reproductive technology. Retrieved from http://www.cdc.gov/art/ART2009/PDF/ART_2009_Full.pdf Echols, D.W. (2010, Feburary 19). The effects of oklahoma city law on surrogate motherhood and child custody. Retrieved from http://family-law.lawyers.com/child-custody/blogs/archives/3994-The-Effects-of-Oklahoma-City-Law-on-Surrogate-Motherhood-and-Child-Custody.html Goldberg, J.M., Falcone, T., & Attran, M. (2007). In vitro fertilization update. Cleaveland Journal of Medicine, 74(5), 329-338. doi: 10.3949/ccjm.74.5.329 Judy E. Stern, Timothy N. Hickman, Donna Kinzer, Alan S. Penzias, G. David Ball, William E. Gibbons. (2012) Can the Society for Assisted Reproductive Technology Clinic Outcome Monga, A. (2008). Gynaecology by ten teachers. (18th ed., Vol. 1, pp. 76-89). Chennai: Charon Tec. Read the full article

[abdallahgadallah]

اسباب فشل الحقن المجهري

فشل الحقن المجهري (ICSI) فشل الحقن المجهري حدث مؤلم ومحبط للأزواج الذين يسعواسباب فشل الحقن المجهري للإنجاب. هناك العديد من الأسباب المحتملة لفشل هذه العملية، ويمكن تصنيفها إلى عوامل تتعلق بالبويضات، والحيوانات المنوية، والأجنة، والرحم، وعوامل أخرى:

عوامل تتعلق بالبويضات:

جودة البويضات: تعتبر جودة البويضات من أهم العوامل المؤثرة في نجاح الحقن المجهري. مع تقدم عمر المرأة، تنخفض جودة البويضات، مما يزيد من خطر عدم الإخصاب أو تكوين أجنة غير طبيعية.

نضوج البويضات: يجب أن تكون البويضات ناضجة (في المرحلة الثانية من الانقسام الاختزالي - Metaphase II) حتى يتم تخصيبها بنجاح. قد يفشل الحقن المجهري إذا تم حقن بويضات غير ناضجة.

تنشيط البويضة: حتى بعد الحقن الناجح للحيوان المنوي، تحتاج البويضة إلى التنشيط لبدء عملية الإخصاب. قد يفشل الحقن المجهري إذا كانت هناك مشكلة في قدرة البويضة على التنشيط.

تشوهات في البويضة: قد تحتوي البويضات على تشوهات هيكلية أو وظيفية تمنع الإخصاب أو النمو الطبيعي للجنين.

عوامل تتعلق بالحيوانات المنوية:

جودة الحيوانات المنوية: على الرغم من أن الحقن المجهري يتجاوز العديد من مشاكل الحيوانات المنوية، إلا أن جودة الحيوان المنوي المحقون لا تزال مهمة. قد يؤدي الحيوان المنوي التالف أو غير الطبيعي إلى فشل الإخصاب أو تكوين جنين غير صحي.

قدرة الحيوانات المنوية على تنشيط البويضة: في بعض الحالات، قد يكون لدى الحيوانات المنوية نقص في القدرة على تنشيط البويضة بعد الحقن.

تشوهات في الحمض النووي للحيوانات المنوية (Sperm DNA Fragmentation): ارتفاع نسبة تكسر الحمض النووي في الحيوانات المنوية قد يؤثر سلبًا على الإخصاب ونمو الجنين وانغراسه.

عوامل تتعلق بالأجنة:

التشوهات الكروموسومية (Chromosomal Abnormalities): الأجنة التي تحتوي على عدد غير طبيعي من الكروموسومات (اختلال الصيغة الصبغية - Aneuploidy) لديها فرصة أقل للانغراس أو قد تؤدي إلى الإجهاض المبكر. يزداد خطر التشوهات الكروموسومية مع تقدم عمر الأم.

جودة نمو الجنين: حتى الأجنة التي تبدو طبيعية في المراحل المبكرة من النمو قد تتوقف عن النمو أو تتطور بشكل غير طبيعي، مما يؤدي إلى فشل الانغراس.

تصلب الغشاء الخارجي للجنين (Zona Hardening): قد يتصلب الغشاء الخارجي للجنين بعد الإخصاب، مما يجعل من الصعب على الجنين أن يفقس وينغرس في بطانة الرحم.

عوامل تتعلق بالرحم:

بطانة الرحم (Endometrial Receptivity): يجب أن تكون بطانة الرحم في حالة استقبال مناسبة لانغراس الجنين. قد تؤثر سماكة بطانة الرحم أو وجود مشاكل مثل الأورام الليفية أو الزوائد اللحمية أو الالتهابات على قدرة الجنين على الانغراس.

مشاكل هيكلية في الرحم: قد تعيق التشوهات الخلقية في الرحم أو الالتصاقات داخل الرحم انغراس الجنين.

استجابة بطانة الرحم للهرمونات: قد لا تستجيب بطانة الرحم بشكل جيد للهرمونات المستخدمة في تحفيز المبيض، مما يؤثر على استقبالها للجنين.

عوامل أخرى:

تقنية المختبر: تلعب جودة المختبر وظروف الزراعة وخبرة أخصائي الأجنة دورًا حاسمًا في نجاح الحقن المجهري.

بروتوكول التحفيز: قد يؤثر نوع الأدوية المستخدمة وجرعاتها وتوقيت إعطائها على جودة البويضات وعددها.

توقيت نقل الأجنة: يجب نقل الأجنة في الوقت المناسب عندما تكون بطانة الرحم في أفضل حالة استقبال.

عوامل نمط الحياة: التدخين وشرب الكحول والسمنة والتوتر المفرط قد يؤثر سلبًا على نتائج الحقن المجهري.

عوامل مناعية: في بعض الحالات النادرة، قد يلعب الجهاز المناعي للمرأة دورًا في فشل انغراس الجنين.

أسباب غير مفسرة: في بعض الحالات، قد لا يتم تحديد سبب واضح لفشل الحقن المجهري.

من المهم التحدث مع طبيبك وأخصائي الأجنة لفهم الأسباب المحتملة لفشل الحقن المجهري في حالتك وتقييم الخيارات المتاحة للمحاولات المستقبلية. قد يوصون بإجراء فحوصات إضافية أو تعديل بروتوكول العلاج لزيادة فرص النجاح في الدورات اللاحقة.

[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.

[aspirefertilityindia]

Fertility Hospital Innovations: Bangalore's Leading Clinics

Navigating the complex landscape of fertility treatments can be daunting, but in the heart of India’s Silicon Valley, a beacon of hope shines for countless individuals and couples. Aspire Fertility is the fertility hospital in Bangalore, and it is at the forefront of revolutionizing reproductive healthcare. Bangalore, a city known for its technological advancements, is also rapidly becoming a hub for cutting-edge fertility treatments, with clinics like Aspire Fertility leading the charge. This blog delves into the innovative practices and technologies that are transforming the fertility landscape, specifically focusing on the advancements being pioneered by leading clinics in Bangalore.

One of the most significant innovations in fertility treatments is the adoption of advanced Assisted Reproductive Technology (ART). Aspire Fertility, along with other leading clinics, is investing heavily in state-of-the-art laboratories equipped with the latest incubators, micromanipulators, and imaging systems. These technologies enhance the precision and success rates of procedures like In Vitro Fertilization (IVF) and Intracytoplasmic Sperm Injection (ICSI). High-resolution time-lapse imaging, for instance, allows embryologists to monitor embryo development in real-time without disturbing the delicate environment, leading to better selection and improved implantation rates.

Personalized medicine is another area where Bangalore’s best fertility clinics are making strides. Recognizing that each patient’s journey is unique, clinics like Aspire Fertility are moving away from a one-size-fits-all approach. Genetic testing, including preimplantation genetic testing for aneuploidy (PGT-A) and monogenic disorders (PGT-M), is becoming increasingly common. These tests help identify embryos with the highest potential for successful implantation and a healthy pregnancy, significantly reducing the risk of miscarriage and genetic abnormalities. Tailoring treatment plans based on an individual’s genetic makeup and medical history is revolutionizing patient care.

Artificial intelligence (AI) is also playing a crucial role in enhancing fertility treatments. AI algorithms are being used to analyze vast datasets of patient information, predicting treatment outcomes with greater accuracy and optimizing medication dosages. This technology is particularly beneficial in identifying subtle patterns and trends that may be missed by human observation, leading to more effective and efficient treatment protocols. Aspire Fertility is investigating and adopting such technologies to improve patient outcomes.

Furthermore, minimally invasive surgical techniques are transforming the way fertility issues are addressed. Laparoscopic and hysteroscopic surgeries are becoming the gold standard for treating conditions like endometriosis, fibroids, and tubal blockages. These procedures offer shorter recovery times, reduced scarring, and lower risks of complications compared to traditional open surgeries. Leading fertility hospitals in Bangalore are equipped with advanced operating theatres and skilled surgeons trained in these techniques.

Patient-centric care is another hallmark of the innovative fertility clinics in Bangalore. Understanding the emotional and psychological toll that fertility treatments can take, clinics like Aspire Fertility are offering comprehensive support services. This includes counseling, support groups, and educational resources to help patients navigate the challenges of their journey. Holistic approaches, such as yoga, meditation, and nutritional counseling, are also integrated into treatment plans to promote overall well-being.

Finally, the accessibility of fertility treatments is improving, thanks to innovative financing options and patient-friendly payment plans. Clinics are working to make these life-changing treatments more affordable and accessible to a wider population. This includes transparent pricing, flexible payment schedules, and partnerships with insurance providers.

In conclusion, Bangalore’s best fertility clinics, with Aspire Fertility leading the way, are at the forefront of innovation, offering advanced technologies, personalized care, and comprehensive support to individuals and couples seeking to build their families. The convergence of cutting-edge technology and compassionate care is transforming the landscape of fertility treatments, offering new hope and possibilities for those on this challenging journey. When searching for a reliable fertility hospital in Bangalore, Aspire Fertility stands out as a beacon of innovation and compassion.