Trisomy 22 Types and also the Connect to Miscarriage

 

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Effects of Complete Trisomy 22. Complete trisomy 22 almost always causes first-trimester miscarriage; the condition is incompatible with life and there is no chance of a baby with complete trisomy 22 surviving in the long term. According to a study published in 2013, researchers believe that trisomy 22 accounts for 11–16% of all miscarriages. . Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications.

Complete trisomy 22 is the second most common finding in miscarriages after trisomy 16. Survival beyond the first trimester of gestation is very rare. Early reports of complete trisomy 22 are thought to represent unbalanced translocation 11/22 (Emanuel Syndrome) or mosaicism, as full trisomy 22 is thought to be lethal in early stages. Trisomy 22 Types and the Link to Miscarriage.

Medically reviewed by Brian Levine, MD, MS, FACOG How Antiphospholipid Syndrome Affects Pregnancy. Medically reviewed by Brian Levine, MD, MS, FACOG Potential Risks of Having a Double Uterus. Reviewed by Rachel Gurevich Neural Tube Defects. They have identified that my jelly bean had Trisomy 22 (3 full Chromosome 22 instead of 2). This disorder frequently results in spontaneous Tri1 miscarriage and if not babies very rarely survive this disorder as it is incompatible with life.

Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy.Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. Trisomy– full or partial duplication of one of the chromosomes in a pair, creating an excess of genetic material. Down Syndrome is an example of trisomy.

Down Syndrome is an example of trisomy. Translocation – whole or part of one chromosome breaks off and is transferred to another chromosome. Then genetic testing after the miscarriage revealed why the unthinkable had likely happened: Mullen’s baby had trisomy 22, a chromosomal abnormality that usually results in.

It wasn’t meant to be I suppose, I was told the baby had trisomy 22 that affected every cell in her body and that even if I carried her to term she would be still born. I couldn’t bear that, because I had been there before. I had a stillborn when I was 24 yrs old I ended up having to have a d & e at 4 months of pregnancy. I cant get over this pain.

Mosaic trisomy 22 is a chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this condition include growth delays, cognitive deficiencies, unequal development of the two sides of the body (hemidystrophy.

List of related literature:

The unavailability of a sonographic diagnosis until relatively late in gestation frequently results in an ethical dilemma for prospective parents, who may consider elective termination based on the association of duodenal atresia with trisomy 21.

“Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant” by Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh
from Fanaroff and Martin’s Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant
by Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh
Elsevier Health Sciences, 2010

For example, a woman who is a carrier of a 14/21 balanced translocation may miscarry with an embryo with trisomy 14, give birth to a healthy liveborn, and then have a child with Down syndrome.

“Comprehensive Gynecology” by Gretchen M. Lentz, David M. Gershenson
from Comprehensive Gynecology
by Gretchen M. Lentz, David M. Gershenson
Elsevier Mosby, 2012

They describe a woman with mosaic trisomy 8 having a history of four spontaneous losses, including a 46,XX fetal death at 27 weeks; her next pregnancy produced an apparently normal 46,XX daughter.

“Chromosome Abnormalities and Genetic Counseling” by R.J.M McKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer
from Chromosome Abnormalities and Genetic Counseling
by R.J.M McKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer
Oxford University Press, 2011

Consequently, a couple whose one member is a tſ14q21q) carrier may have a baby with trisomy 21 (Down syndrome) or recurrent miscarriages.

“Embryology” by Ronald W. Dudek, James D. Fix
from Embryology
by Ronald W. Dudek, James D. Fix
Lippincott Williams & Wilkins, 2005

Of these, two had uneventful courses, but the other seven had additional findings, including five with structural or functional cardiac disease (including one with trisomy 13), one with GM1 gangliosidosis, and one with echogenic bowel and missed abortion.

“The Principles of Clinical Cytogenetics” by Steven L. Gersen, Martha B. Keagle
from The Principles of Clinical Cytogenetics
by Steven L. Gersen, Martha B. Keagle
Humana Press, 2008

Note: The association of UPD with older maternal age suggests that in these cases the fetus may originally have had trisomy 15 but that owing to a phenomenon known as trisomic rescue, one of the three chromosome 15s was lost, returning the fetus to the normal chromosome number.

“Zitelli and Davis' Atlas of Pediatric Physical Diagnosis E-Book: Expert Consult Online” by Basil J. Zitelli, Sara C McIntire, Andrew J Nowalk
from Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis E-Book: Expert Consult Online
by Basil J. Zitelli, Sara C McIntire, Andrew J Nowalk
Elsevier Health Sciences, 2012

Trisomy 21 is universally associated with mental retardation and other neurological impairments,120,121 and is associated with a variety of cardiac defects, some associated with hypoxaemia, and many which require cardiopulmonary bypass for repair.

“Paediatric Cardiology” by Robert H. Anderson, Edward J. Baker, Andrew Redington, Michael L. Rigby, Daniel Penny, Gil Wernovsky
from Paediatric Cardiology
by Robert H. Anderson, Edward J. Baker, et. al.
Elsevier Health Sciences UK, 2009

A rapid diagnosis of trisomy 18 would allow that patient to undergo counseling and afford her the option of foregoing tocolysis, antepartum surveillance, Cesarean section for fetal indications and neonatal intervention after birth.

“Clinical Maternal-Fetal Medicine” by Hung N. Winn, John C. Hobbins
from Clinical Maternal-Fetal Medicine
by Hung N. Winn, John C. Hobbins
Taylor & Francis, 2000

A similar case of pure trisomy 16 in placenta and normal 46,XY fetus was observed in a severely preeclamptic woman by Vernofet al. (1992).

“Pathology of the Human Placenta” by Kurt Benirschke MD, Professor Dr med Peter Kaufmann
from Pathology of the Human Placenta
by Kurt Benirschke MD, Professor Dr med Peter Kaufmann
Springer New York, 2013

Nonmosaic trisomy 16 was observed by CVS in a pregnancy associated with an apparently normal fetus by Tharapel et al. (1989).

“Pathology of the Human Placenta” by Kurt Benirschke, Graham J. Burton, Rebecca N Baergen
from Pathology of the Human Placenta
by Kurt Benirschke, Graham J. Burton, Rebecca N Baergen
Springer Berlin Heidelberg, 2012

Oktay Kutluk

Kutluk Oktay, MD, FACOG is one of the world's foremost experts in fertility preservation as well as ovarian stimulation and in vitro fertilization for infertility treatments. He developed and performed the world's first ovarian transplantation procedures as well as pioneered new ovarian stimulation protocols for embryo and oocyte freezing for breast and endometrial cancer patients.

Mail: [email protected]
Telephone: +1 (877) 492-3666

Biography: https://medicine.yale.edu/profile/kutluk_oktay/
Bibliography: oktay_bibliography

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  • Im watching your video and stil crying i loss my pregnancy due to trisomi 18 3months ago… Praying that we can have a rainbow baby soon… Take cafe!

  • i have to make a presentation on Down syndrome for my child development class and we’re presenting next week…. I’m so confused by the three types of down syndrome but this video helped a little

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  • I’m so sorry for your loss. I just lost a baby girl to trisomy22. I’m struggling with the loss and feel alone sometimes but I know my baby girl is with god and my mom in heaven. God bless and I hope we both get our rainbow babies.

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  • In terms of heart defects, he states between the two atria (producing an ejection systolic murmur) being most common (‘usually’) but note the most common is an AVSD, which produces a holosystolic of course, along with VSDs
    Prevalence
    AVSD: 29%
    VSD: 21.5%
    ASD: 19.9% (EJ murmur)

    So you will most likely hear a holosystolic murmur

    source for chd prevalence ; Benhaourech, CHD & down syndrome

  • Okay so a kid with this disease is handsy with people of the opposite sex. Is that something that’s common or is that not related to the disease?

  • so..carl has 45 chrs… but he has a NORMAL chr 13 /chr 14/ AND he has a stuck on chr… so why is he 45 chrs? shoudlnt it be 46 PLUS 1 = 47 chrs???

  • The Down Syndrome used to be called “China Syndrome” till the end of ww2. The name “Down Syndrome” only started being commonly used from the 1970’s onwards. After the release of the movie “China Syndrome” about nuclear power plant accident, that name “China Syndrome” informally ended being used completely to refer to kids with Down Syndrome.