#Trisomy 18

[cheerfullycatholic]

A study published in the American Journal of Medical Genetics has revealed that the median survival time for babies born alive with Trisomy 13 has nearly doubled from three months to six months, and that one in three babies with the condition are currently surviving for more than a year after birth. Coinciding with this increased lifespan trend is an increase in the rate at which patients with Trisomy 13 are undergoing surgery. That rate rose from 16% in the years 1996-2008 to 28% in the years 2009-2021. Researchers explained that “because of the poor prognosis” that babies with Trisomy 13 often receive, they are typically not provided with aggressive treatment or necessary surgeries that would help them live longer. It has been found that babies who do receive these treatments live longer than those who don’t. ... Vicky Wall, the mother of a baby girl named Líadán, who was diagnosed with Trisomy 18, said that this study proves that many doctors are “behind the curve in terms of new developments” in the care of children with Trisomy 13 and Trisomy 18. She argued that the new research highlights a need for a change in mindset regarding children with these conditions. “I have spoken to so many families who say they felt belittled, rejected, and ignored because their unborn baby was diagnosed with Trisomy 13 or 18,” she said. “They say they were offered no hope, that they were pushed towards abortion, that when they asked what could be done for baby after birth they were made to feel they were being ridiculous. It’s shameful, and it has to stop.”

[tomorrowusa]

A reminder that Republicans reserve the right to police reproductive systems.

A Texas woman who had sought a legal medical exemption for an abortion has left the state after the Texas Supreme Court paused a lower court decision that would allow her to have the procedure, lawyers for the Center for Reproductive Rights said Monday.  State District Judge Maya Guerra Gamble last week had ruled that Kate Cox, a 31-year-old mother of two from Dallas, could terminate her pregnancy. According to court documents, Cox's doctors told her her baby suffered from the chromosomal disorder trisomy 18, which usually results in either stillbirth or an early death of an infant.  As of the court filing last week, Cox was 20 weeks pregnant. According to the Center for Reproductive Rights, which brought the lawsuit, Cox left the state because she "couldn't wait any longer" to get the procedure. "Her health is on the line," said Center for Reproductive Rights CEO Nancy Northup. "She's been in and out of the emergency room and she couldn't wait any longer." In response to Gamble's decision, Texas Attorney General Ken Paxton warned a Texas medical center that it would face legal consequences if an abortion were performed.  In an unsigned order late Friday, the Texas Supreme Court then temporarily paused Gamble's ruling.  On Monday, after Cox left the state, the state Supreme Court lifted the pause, dismissing it as moot, and overturned the lower court ruling that had granted Cox's request. 

Fortunately Ms. Cox had the option of traveling to another state to have the procedure. A future US Supreme Court packed with MAGA judges could further restrict abortion nationally.

ALL of the current GOP candidates for president would choose anti-abortion judges for the US Supreme Court. And a GOP Senate would confirm them. Remind anybody considering voting for an impotent third-party candidate who has no chance of winning.

[jcsmicasereports]

Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review by Chao-Chun ZOU in Journal of Clinical Case Reports Medical Images and Health Sciences

ABSTRACT

The trisomy 18 syndrome is a common chromosomal disorder due to the presence of an extra chromosome 18, either complete, mosaic trisomy or partial trisomy 18q. The mosaic trisomy 18 patients’ phenotype was extremely variable, from the absence of dysmorphic features to complete trisomy 18 syndrome. The phenotype of 18p deletion syndrome is variable and almost all survived. A 2-year-old girl was referred to our hospital due to growth delay. Mild dysmorphy including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, dysplasia teeth, small hands and fingers bilaterally was observed. The karyotype of peripheral leukocyte showed 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]. We report this case to add to our knowledge of the trisomy 18 and microdeletion 18p mosaicism.

Keywords: Trisomy 18, mosaic;18p microdeletion; Psychomotor retardation; Karyotype

INTRODUCTION

The trisomy 18 syndrome was first reported by Edwards et al in 1960, also known as Edwards syndrome. It is the second most common autosomal chromosomal disorder after trisomy 21（Down’s syndrome）due to the presence of an extra chromosome 18, which has three basic types: complete, mosaic and partial type (Edwards et al., 1960, Cereda and Carey, 2012,Mudaliyar and Mudaliyar, 2017). The syndrome presents a recognizable pattern of major and minor anomalies, significant psychomotor and cognitive disability are associated with high neonatal and infant morbidity and mortality. The estimated overall prevalence of trisomy 18 in live born is approximately 1/6, 000 to 1/8, 000 while the incidence in fetus is much higher, the difference is caused by fetal loss and pregnancy termination after prenatal diagnosis (Cereda and Carey, 2012, Rasmussen et al., 2003). The mosaic trisomy 18 usually means having more than one cell line in the individual, and it occurs in approximately 5 percent in all trisomy 18 patients (Fitas et al., 2013). The phenotypic manifestations are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome (Tucker et al., 2007). Since the clinical outcomes of complete and mosaic trisomy 18 can be different, it is of vital importance to achieve a correct diagnosis because of implications in medical management and genetic counselling. 18p deletion was first described by de Grouchy and colleagues in 1963 and was estimated to occur in approximately 1/50, 000 live born, which results from deletion of a part or full of the short arm of chromosome 18(Turleau, 2008). The mostly reported clinical features include cognitive impairment, congenital heart defects, small stature, minor facial dysmorphy, and skeletal deformities(Turleau, 2008, Xiao et al., 2019, Hasi-Zogaj et al., 2015, Yi et al., 2014)

Typical facial features include hypertelorism, ptosis, strabismus, broad–flat nose, micrognathia, and low-set big ears. Holoprosencephaly may be seen in approximately 10–15% of patients(Turleau, 2008). In addition, speech and language difficulties, pituitary abnormalities, generalized seizures, dystonia, and autoimmune diseases have also been described(Turleau, 2008, Rao et al., 2001, Graziadio et al., 2009, McGoey et al., 2011). However, these non-specific features are easily overlooked clinically. The clinical phenotype severity is related to the size and location of deletion region. In this report, we present a 2-year-old girl of mosaic trisomy 18 and 18p microdeletion with mild psychomotor retardation, cognitive impairment and language developmental disability.

Clinical description

A 2-year-old female second child of non-consanguineous parents was admitted to our hospital due to growth delay. Her mother and father were 34 years old and 38 years old when giving birth to her. She was born at full-term with uncomplicated gestation, her birth weight was 3.35 kg and the length was about 50 cm. No feeding difficulty and complications were referred in the neonatal period. She had a motor retardation of autonomous walking until 22-months old and intelligence disability and language disability. She only knew a few simple words like ��mama“, not ”baba“, and she cannot communicate clearly with others though she was willing to speak to strangers. Gesell Developmental Schedules performed in local hospital indicated mental developmental delay in motor behavior, language behavior, adaptive behavior and personal-social behavior at age of one year and 8 months old. The height of her father, mother and 15

years old sister were 165cm, 161cm, and 155cm, respectively. No similar history was noted in her family.

On physical examination, she had a height of 81.4 cm below -3SD and a weigh of 11.6 kg below -1SD. Mild craniofacial dysmorphy was present, including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, and downturned corners of the mouth while other craniofacial anomalies were not obvious (Fig.1A). Her hands were small especially her fingers, but the fingernails are normal (Fig.1B). Her teeth were dysplasia (Fig.1C). The echocardiography revealed patent foramen ovale (ϕ 2.96 mm) while no murmur was present. The muscle tension was normal and no other organ abnormality was detected in our patient.

Laboratory examinations (urine, liver, kidney, thyroid hormone, GS/MS and blood glucose analyses) were all normal. Insulin-like growth factor-1 was 72.5 ng/ml (normal range, 55-327 ng/ml).

Management and outcome

Ten months ago, the child was brought to a local hospital with developmental delay, the peripheral leukocyte karyotype was taken and revealed two abnormal cell lines, the result was 46,XX, psu idic (18)(p11.2)[55]/46, XX, del (18)(p11.2)[45] . She was then referred to another hospital to take the whole-exome sequencing demonstrating a deletion at 18p11.32-p11.22 (GRch37/hg19, chr18:158679 9708482del) and a duplication at

18p11.21-q23(GRch37/hg19, chr18:12012132 78005255dup). She was diagnosed mosaic trisomy 18 syndrome.

Discussion

The first reported patients with trisomy 18 syndrome were initially described by Edwards et al and Smith et al in 1960s, while the first case of mosaic trisomy 18 was reported in 1965. Less than 5% portion of patients have mosaicism of trisomy 18, and Banka et al reminded that routine karyotype from lymphocyte culture may not be sufficient to diagnose mosaicism if practitioners suspect a diagnosis of mosaic trisomy 18, karyotype from skin fibroblasts should be considered. Since then over 40 cases of mosaic trisomy 18 have been described, Tucker et al reviewed 33 reported individuals of mosaic trisomy 18 and added 2 more cases in 2007. Their clinical manifestations are extremely variable from complete trisomy 18 syndrome with early death to near totally normal. Some physical features are relatively more common and included brachydactyly, high arched palate, microcephaly, delayed bone age, frequent respiratory infections and otitis media, heart defect, 5th finger clinodactyly, micrognathia, and hypotonia. The most common heart defect is ventricular septal defect in mosaic trisomy 18. Our case has mild craniofacial dysmorphy and patent foramen ovale, and no other physical anomalies were observed.

Trisomy 18 mosaicism usually indicates the existence of more than one cell line in the individual. The peripheral leukocyte karyotype demonstrates pseudodicentric chromosome substituting a normal chromosome 18 in 55 cells and chromosome 18 missing the end of the short arm in 45 cells. The skin fibroblasts karyotype was not taken. Furthermore, there is no correlation between the physical and intellectual findings and the percentage of trisomy 18 cells in either peripheral leukocytes or skin fibroblasts. Besides, there is no correlation between the percentage of trisomic cells in peripheral leukocytes and brain, gonads, or other key organs. The variety of mosaic trisomy 18 may be related to the percentage of trisomic cells in different key organs of the body.

For complete trisomy 18 patients, approximately 50% of infants live longer than one week and about 5-10% of children survive beyond the first year. In overall, trisomy 18 mosaicism patients usually survive longer when compared to complete trisomy 18. This does not mean that all the mosaic trisomy 18 patients have a longer survival, some died a few hours after birth. For normal or mild phenotypical mosaic trisomy 18 cases, some were diagnosed due to recurrent miscarriages or giving birth to a child with trisomy 18 while others may never be identified. 18p deletion syndrome, also called monosomy 18p and De Grouchy syndrome type Ⅰ, which means a deletion of full short arm of chromosome 18 or a microdeletion of the short arm of chromosome 18. Some researches showed that nearly half of patients have breakpoints in the centromeric region and the rest scatter in the short arm, and approximately half of the deletions occur on the maternal chromosome 18 no matter where the breakpoint locations are. Our case’s breakpoint is at the 18p11.32-p11.22. Approximately two thirds of patients’18p deletion are de novo; the rest may be due to a de novo unbalanced translocation or malsegregation of parental chromosome rearrangement or a ring chromosome. The patient’s height and weight is 81.4 cm below -3SD, 11.6 kg below -1SD, respectively. It may be a prodrome of small stature, but her insulin-like growth factor-1 was normal. It also could be contributed to feeding problem. More follow-up work needs to be done to figure it out. Some reported cases show that growth hormone replacement treatment is efficient in growth hormone deficiency patients.

Our case has trisomy 18 and microdeletion 18p mosaicism simultaneously. The possibility of meiotic chromosomal nondisjunction of the ovogonia/spermatocyte was increased because of her parents’ advanced maternal age, some women may have higher a risk for nondisjunction. More possible mechanism may be a de novo unequal recombination occurring in early embryonic mitosis. Some deletions are from the parents, there is no way to figure her mutation mechanism out since we can not get her parents’ consent to analysis. The phenotype of our case combines two syndromes’ typical features, including common psychomotor retardation, cognitive impairment and congenital heart defect, characteristic small stature and language impairment of 18p deletion syndrome. Our case’s uncharacteristic craniofacial features also combine two syndromes.

In a conclusion, mosaic trisomy 18 and 18p deletion syndrome both are chromosomal disorders which has a variety of clinical manifestations. If an individual has untypical phenotypical anomalies and psychomotor and cognitive disability, chromosome disorder should be considered and cytogenic analysis is needed.

Acknowledgements: We thank the patient and his parents for permitting us to use the data.

[ilianaoftroy]

Adding to this a gift article link regarding a case in Texas. Ken Paxton, who narrowly avoided getting fired by his own party because he is so corrupt, is now preventing treatment for a woman carrying a fetus with Trisomy 18. She has children who need her. She wants more children. According to Ken Paxton she should risk losing her fertility and life so her baby can live in agony for maybe a few days.

Every once and a while I think about the forced birther here on Tumblr who basically said I was a sociopath because I work as an embryologist and expressed concern for women suffering pregnancy complications due to the overturning of Roe v Wade. They demanded examples and then rationalized the ones provided away. Admittedly, the legit articles I provided were behind a paywall, bc, you know, real research costs money. It was a non productive conversation because this person felt such circumstances were 'rare' and I guess didn't care if those women died.

The next day I performed an embryo transfer for a woman who had suffered five miscarriages requiring medical intervention in the past. Because of where she lives, she got care, still has a functioning uterus, and can try again to start a desperately wanted family with her beloved spouse. Then I signed congrats cards for 6 patients who had sent our office birth announcements.

It's been a year and I still think about the difficulties the patients I work with would face in other states. How I will never relocate places because I could be left untreated until septic, not to mention not have a job. How I have fewer rights than my mother did at my age. Today I came across this pay wall free paper, fairly limited in scope, confirming the complications in healthcare for pregnant people post Roe v Wade. But what I do know. I just work with people with complex pregnancies every day.

[joysofbraindamage]

Oldest person with Trisomy 18 I have ever seen.

[brightmorningstarposts]

My children, pt. 3, Jessica-Joy

Time passed and we were doing okay. I kept on working as a secretary at Cornerstone Counselling Centre, Henry at the church. I went with him to youth group meetings, church, etc., wherever I was allowed to go. It was not easy. The youth were not unfriendly by any means. It was my own hang-ups. I had always been socially awkward and making small talk was never something I could do. Plus, I felt…

[contemplatingoutlander]

So basically, given that the fetus Ms. Cox is carrying reportedly has trisomy 18, it will most likely die in utero or shortly thereafter. If it is one of the few who survive, it will have severe disabilities, including severe cognitive disabilities.

I also understand that Ms. Cox could end up becoming infertile or could even die if she is forced to give birth.

None of this has anything to do with being pro-life. This is a move by an ambitious, heartless man (Ken Paxton) and the misogynistic, far-right, Christofascists who support him, all because they believe it is imperative for them to control the lives of women.

Welcome to the New Republic of Gilead Texas!

Illustration by Rebekka Dunlap in The New Yorker.

Texas - We Add Insult To Injury

[drpedi07]

Edwards Syndrome

Edwards syndrome is a very rare condition caused by an abnormal amount of chromosomes in the cells of the body. Babies are normally born with 46 chromosomes, which are arranged in 23 pairs.

[soundlessdragon]

Reminder that your life matters even if you are disabled or diagnosed with a terminal condition.

[cheerfullycatholic]

“People look at Pierce and might see brokenness,” said Henry. “But he doesn’t feel broken… We just have to do things differently. You don’t have to walk to live. That’s our big family motto. That’s our prayer for Pierce, that he would always live that abundant life.”

[gay-jesus-probably]

If you know anything about chromosomes, you should know that sex chromosomes are barely relevant to a person. There's a reason it's the only form of monosomy that presents in humans - you just need one X chromosome to set up some hormone systems and whatnot, and there you go, you're viable for life. I mean, Monosomy 23 isn't great for a person, they'll probably be sterile, their bone structure turns out a bit fragile, and they'll definitely need hormone therapy to properly hit puberty, but it's a life. Which is a hell of a lot better than any other form of monosomy in humans, which comes with lethal structural flaws ensuring you don't make it to birth.

Anyways, the far more common issue with sex chromosomes in Trisomy 23, and I say 'issue' in the loosest sense of the word, because honestly it's not even a problem - we have no idea how common Trisomy 23 really is, because there's basically no symptoms, and every form of it presents about the same. As in, the first case of XXY trisomy was discovered accidentally - the man who had it was getting a karyotype test done for completely unrelated reasons, and was shocked to discover he had a trisomy.

Sex chromosomes are neat like that; since they're literally designed for everyone to have an X no matter what, the way it works is that you just need to have one X chromosome, and there you go, you've got the structural information you need, you're viable for life. The other sex chromosome (or chromosomes) is just a modifier for what configuration the reproductive organs should be in. So the Y chromosome carries very little information, since it's only relevant half the time, and the X chromosome is meant to be able to work through a redundant copy, which leads to the end result where Trisomy 23 does basically nothing. Unless you've had a karyotype test done, you have no idea what's actually going on with your sex chromosomes, and neither does anyone else.

Like... come on people, they're so meaningless. Chromosome pairs are numbered from most to least important, you know; there's a reason the sex chromosomes are all the way at the end, and that's because they're barely relevant. Humans just don't have a lot of sexual dimorphism; we're a very androgynous species.

And all that stuff about Trisomy 23 stands in very sharp contrast to the other survivable forms of trisomy in humans, which is... arguably one and a half kinds. Trisomy 21 (aka Downs Syndrome) is the best known, as it's the only other form that's really viable, since it fortunately just presents as some mild structural issues - the brain's a little scrambled, and the heart has some fundamental flaws that cut about twenty years off the average lifespan. For a trisomy patient, that's incredible. If you've got Downs, you technically lost the genetic lottery, given that you had the bad luck to get either a sperm or ova cell that'd suffered a nondisjunction during the meiosis process, but I'd argue you also won the genetic lottery, because my god your existence is a miracle, we're so lucky that the 21st chromosome pair just happens to not cover anything too vital. And you're absurdly lucky that the defective sex cell that started it all just so happened to have that specific form of nondisjunction, because if any chromosome pair apart from 21 or 23 is affected by nondisjunction during meiosis, it's extremely not good.

...Then there's also Trisomy 18, which is... hard to describe. I mean, it's amazing that Trisomy 18 cases can survive until birth, but... the structural flaws are considerably more severe, so most don't last long after that. Most Trisomy 18 patients die within a week of being born. The lucky ones get a few months or years. With constant, intensive medical care and a hell of a lot of luck, a tiny handful of patients have even survived to their twentieth birthdays... but never for long after that. There's a reason why treatments for Trisomy 18 include grief counciling for the parents. It's just... it's not good. There's a reason I said Trisomy 21 is a miracle; other forms of trisomy in humans are so, so much worse.

Except for Trisomy 23, which again, barely counts, because there are no symptoms, and so we have no idea how common it really is. Are you slightly taller than average? Congratulations, you might have Trisomy 23. Or you might not, who the fuck knows. Certainly not you!

Basically my point is, chromosomes are absolutely fascinating, but the sex chromosomes are only really interesting in the context of how irrelevant they are compared to all the other chromosome pairs. They're just not doing all that much, so there's a massive amount of room for error with no real signs. All anyone knows for sure is that they have at least one X chromosome (as that's where the important information is; no X means no life), and beyond that if you haven't had a karyotype test done, it's just wild guessing. So if you're ranting about sex chromosomes being A Big Deal... congratulations, you've exposed yourself as a fucking moron that knows nothing about chromosomes. Anyone that's studied biology beyond a high school level could tell you otherwise. Rip to all you bioessentialists but I'm cooler than you.

Context.

[rentedvsl]

some dear friends of mine have a son with trisomy-18 that wasn't expected to live long enough to make it out of the hospital. but, miraculously, he lived twenty two weeks and passed away tonight.

they have another son who is three, and he said he saw a bright light at home and again when they were at the hospital. then when their baby passed, he said he saw a person with wings flying into the sky. i know that baby met Jesus tonight.

i wanted to share that with you all, because as heartbreaking as it is, it's also beautiful. that child of God was given a new body tonight & the first time he ever ran it was into Jesus's arms.

please pray for the adams family as they deal with this loss. rest in peace, chapman. 🕊️

[uboat53]

A woman with two children gets pregnant. She wants another child. Unfortunately, during pre-natal checks, it's discovered that this pregnancy has Trisomy 18, a rare condition which is nearly always fatal. Even in the rare cases where it is not fatal, it can cause severe pregnancy complications and the child that results will require full time care for however long they live.

This woman decided, in consultation with her doctors, that she would prefer not to go through a pregnancy whose overwhelmingly likely result is simply a dead fetus or infant and even whose ideal outcome would result in a substantially reduced ability to parent her other children. Moreover, she still wants another child and does not wish to risk the possible damage to her body and fertility that may come as a result. For this reason she chose to abort the pregnancy.

I think most of us, even a large number of those who consider themselves pro-life, can accept this result. It's not the ideal circumstance any of us would prefer, but the decision is reasonable given the situation.

Unfortunately, this woman lives in Texas and Texas has taken a hard line on its abortion ban, arguing that abortion can only be performed in case of immediate threat to the life of the mother. This position has been taken both by the Attorney General and the Supreme Court of the state, meaning that this is the way the law will be enforced.

Many people who celebrated the end of Roe v. Wade tried to say that this type of situation would never come to pass, that their abortion bans would always be enacted and enforced with an eye toward mercy and care for women. It's been about a year and a half since Dobbs and it's become increasingly clear that this is not the case.

Perhaps there are legal guardrails that should be put around the procedure of abortion, I'm certainly open to the possibility and discussion. But what I think is clear at this point is that the type of people who push for blanket bans on the procedure cannot be trusted to enforce them in any way that is consistent with how the majority of Americans view compassion, mercy, and care for women and families, not to mention medical science. Anyone who continues to argue otherwise is lying to try to get you to enact their extreme agenda.

[prolifeproliberty]

Anencephaly, major heart defects, major lung defects, trisomy 13, holoprosencephaly, hydranencephaly, renal agenesis, thanatophoric dysplasia, and triploidy. These aren't "disabilities" ; they are death sentences. You are for forcing women who find out a heart breaking truth to know for months they won't be able to have a baby. You are for forcing an infant into the world only to know torture and agony and pain.

You are a monster, full stop. This is not freedom, this is torture.

Allowing a mother to spend every moment she can with her dying child and also giving her the comfort that she did everything she could rather than the guilt of knowing she had her child killed - that’s what you think is torture?

No family should go through this alone, and there are great resources for perinatal hospice that should be made available to parents.

Also, the number of times doctors have been wrong about a diagnosis or survival chance…

Not to mention new options for correcting issues by performing surgery on a baby in utero to save lives:

Heart surgery for Trisomy 13 and 18, surgery for spina bifida, Renal Anhydramnios Fetal Therapy for renal agenesis, placenta-derived stem cell therapy for spinal bifida, just to name a few

My husband’s parents were told he wouldn’t survive. They were told to abort, and they refused. They planned to say goodbye to him in the hospital after he was born. All the family came. He was born, baptized by his grandpa, and rushed to surgery.

As you probably figured out, he survived (since he is now my husband). He has no lingering effects of the condition that doctors said would kill him, except that he only has one kidney (and doctors now say he has normal kidney function because his single kidney grew to compensate).

Doctors aren’t omniscient. Conditions that were death sentences 20 years ago are now treatable. New surgeries and procedures are constantly being developed.

We’re not going to sentence babies to death because a doctor says they’re going to die. Sorry not sorry.

[soundlessdragon]

"pregnancy that could have killed her" because of preexisting conditions, a risk she was aware of before conceiving and was fully willing to take --until her daughter was diagnosed with a disability in utero at around 20 weeks, which is why she then pursued abortion after 20 weeks. She fiercely pursued a painful early death through abortion for her fully pain-capable fetus, at a gestation where premature birth is now survivable at 21 weeks, instead of loving her child to her full potential and possibly an early but peaceful natural death.

It's evil to treat your disabled child with less care than your abled ones. It's of course evil to end the life of any child, but Kate Cox gets special points for choosing life only until she found out about her daughter's disability.

No woman should die in childbirth.

No child should die from abortion.