Trisomy 13 Patau Syndrome and Premature Birth

 

Living with Trisomy 13 (An Extra 13th Chromosome)

Video taken from the channel: Special Books by Special Kids


 

The Scariest Disorder for New Parents

Video taken from the channel: Tinny


 

Wiktoria with trisomy 13

Video taken from the channel: Wspolnota Razem


 

My Birth Story | Trisomy 13 birth story

Video taken from the channel: Sevyns Essentials


 

Trisomy 13 Never Give up Hope!

Video taken from the channel: Victor Whitmore


 

TRISOMY 13 SYNDROME PATAU SYNDROME)

Video taken from the channel: Ace PG Med


 

Trisomy | Down’s vs Edward’s vs Patau’s Syndrome

Video taken from the channel: Hussain Biology


Trisomy 13, also called Patau syndrome, is a genetic defect involving chromosome 13. Most people have 23 chromosome pairs, but people with Patau syndrome have an extra copy of the thirteenth chromosome. Trisomy 13 is a serious genetic syndrome, and most babies with Patau syndrome die before birth or within the first week of life. March 13, Trisomy 13 Awareness DayTrisomy 13 is a genetic condition in which cells in the body have 3 copies of chromosome 13 instead of 2. The condition arises when mistakes occur during cell division and fertilization, when the egg or the sperm carry an additional copy of chromosome 13 and pass it on to the embryo. The extra chromosome affects the genetic balance resulting.

Babies born with trisomy 13 often have a low birthweight, even if they are not born before the due date. They usually have brain-structure problems, which can affect their facial development, as. Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.

Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births. Trisomy 13: Symptoms,Causes,Risk,Diagnosis and Treatment. Holoprosencephaly (HPE) is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis. The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. The preterm newborn lived only 5 hours, and died because of severe respiratory failure.

Patau syndrome is a genetic disorder, caused by presence of three copies of chromosome 13, instead of normal two. Epidemiology. Patau syndrome is rare, with the incidence of about 1-2 cases from 10,000 births. It is the third most frequent trisomy among live births [1]. Trisomy 13 Syndrome is sometimes called Patau Syndrome, after one of the researchers (Patau K) who identified the syndrome’s trisomic origin in 1960.

The syndrome appears to affect females slightly more frequently than males and occurs in about one in 5,000 to 12,000 live births. Patau’s syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13.

Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents. But a baby with Patau’s syndrome has 3 copies of chromosome 13, instead of 2. Full Trisomy 13 – Trisomy 13, also called Patau syndrome, is a chromosomal condition that occurs in approximately 1 in 10,000 live-born babies (it is more common than this, but most babies with Trisomy 13 miscarry during the pregnancy).

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.

List of related literature:

Another prenatally diagnosed case with nonmosaic trisomy 22 in placental tissue and apparently nonmosaic normal 46,XY cells in newborn blood had severe IUGR, first-degree hypospadias, and other features attributed to prematurity (256).

“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

Steinberg Warren et al. (2001) described a child, followed to age 8¾, normal other than hypomelanosis of Ito, from a pregnancy with a nonmosaic trisomy 20 diagnosed at CVS; culture from asubsequent amniocentesis failed.

“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

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

On the other hand, fetuses with this phenotype may also have trisomy 21 or a normal karyotype.63,64 Among fetuses with a 45,X karyotype, two common structural abnormalities can lead to the development of hydrops.

“Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice E-Book” by Robert Resnik, Robert K. Creasy, Jay D. Iams, Charles J. Lockwood, Thomas Moore, Michael F Greene, Lesley Frazier
from Creasy and Resnik’s Maternal-Fetal Medicine: Principles and Practice E-Book
by Robert Resnik, Robert K. Creasy, et. al.
Elsevier Health Sciences, 2008

Because trisomy 21 is associated with increased risk for miscarriage and stillbirth, for a 35-year-old woman the chances are actually higher that at amniocentesis (1 in 258) or CVS (1 in 175) Down syndrome will be diagnosed.

“Fetal and Neonatal Physiology” by Richard A. Polin, Steven H. Abman, William W. Fox
from Fetal and Neonatal Physiology
by Richard A. Polin, Steven H. Abman, William W. Fox
Elsevier Health Sciences, 2011

As in trisomy 21, there is a significant maternal age effect, and more than 95% of trisomy 18 cases are the result of an extra chromosome transmitted by the mother.ᑏ Trisomy 13 Trisomy 13 (47,XY,+13), also termed Patau syndrome, is seen in about 1 of every 10,000 births.

“Medical Genetics E-Book” by Lynn B. Jorde, John C. Carey, Michael J. Bamshad
from Medical Genetics E-Book
by Lynn B. Jorde, John C. Carey, Michael J. Bamshad
Elsevier Health Sciences, 2019

Trisomy 13 (Patau’s syndrome) affects 1 in 6000 births, with microcephaly and microphthalmia, hare lip and cleft palate, polydactyly, abnormal ears, ‘rocker-bottom’ feet, and cardiac and visceral defects.

“Underwood's Pathology” by Simon Cross
from Underwood’s Pathology
by Simon Cross
Elsevier Health Sciences, 2013

An accurate cytogenetic diagnosis of trisomy 13 is imperative, as mosaicism and partial trisomy 13 cases have been described and these infants may have a somewhat better prognosis.

“Current Management in Child Neurology” by Bernard L. Maria
from Current Management in Child Neurology
by Bernard L. Maria
BC Decker, 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

• Common US findings in trisomy 16 include IUGR, cardiac malformations, genital anomalies, imperforate anus, and gut malrotation.

“Obstetric Imaging: Fetal Diagnosis and Care E-Book” by Joshua Copel, Mary E. D'Alton, Helen Feltovich, Eduard Gratacos, Anthony O. Odibo, Lawrence Platt, Boris Tutschek
from Obstetric Imaging: Fetal Diagnosis and Care E-Book
by Joshua Copel, Mary E. D’Alton, et. al.
Elsevier Health Sciences, 2017

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/
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22 comments

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  • My eldest brother, Bryan, was born with Trisomy 13. He was delivered by C-section after the doctor determined he was trying to climb back up the birth canal, as if he knew he wasn’t done “cooking” yet (as my mother would explain it to me when I was old enough to know what all of this means). He lived for just 45 minutes, and my mother never got to hold him or see him. He would have be 39 years old now.

  • The baby was beautiful but this song is horrible! I would never have taken you for a Christian man when all of your other videos are about money, money, money! Especially when Christ made it very clear about his feelings of money and the rich man. I hope your son is doing well and thriving even today. But that song was horrible. Not at all soothing or touching. It was loud and obnoxious and after I saw who wrote it I noticed it reeked of hypocrisy.

  • Wspolnota Razem
    Please come share your daughter on the Trisomy 13 LIFE group. https://www.facebook.com/Trisomy13LIFE Many long term survivors in this Trisomy13 LIFE Community https://www.facebook.com/Trisomy13LIFE

  • I lost my son to t13 god bless u I had my son 9 days and had to take him off life support then he passed two hours later it is a terrible thing I will always miss my boy this reminds me of when I was there I know exactly what you went through god bless you

  • What a beautiful little girl.
    I can’t imagine how awful it mat be to hear that your child may not live for long.
    I watch several of these posts the admiration I feel for each and every parent is overwhelming I am a retired nurse I worked oncology for five of my twenty years labor and delivery was one of my favorite places to work seeing a new life come into this word was so gratifying and heartbreaking at times.
    May god bless you and thank you for allowing us to share your grief and triumph in giving this precious angel life.

  • I am a Post-graduate medical teacher in a Medical School, working in Child Health Department and the video was to enlighten the Public and also the Medical Field workers to detect similar cases which may go unreported. Thanks for watching the video, the comment and the information provided.

  • Someone emailed me in reply to my comment. I do know this sweet child has trisomy as do his parents whom I’m sure they Thank God everyday he is alive. I still believe when in a great God who will always be in control. I pray for all people who don’t believe in him. I say god bless this family

  • If G-d can heal why does he allow it in the first place.Give the praise to the medical team the doctors who spent years learning the researchers who study.they are real.

  • I hate to say this but God did not plan that that started in the garden of Eden when Adam and Eve sinned and passed the in perfection to us but God has a plan in the future through his son Jesus Christ to restore All things New again Revelation 21 3 and 4

  • Loved watching this our daughter was in the nicu 68 days we new before hand she was going to be born with severe right sided cdh, but we also prayed and believed for a miracle and our little girl will be four months old on the 6th and at home with us. We give God all the glory. They gave her a 30 percent chance of survival in the womb and God made it 100.

  • This is the most amazing story that I have seen, God truly performs miracles every single day people just take what they have for granted… Kingston is a true miracle

  • Awesome video. Thank you for explaining it so clearly. I learned a lot just now. Keep up the great work! I’m so happy I found your channel!

  • Thank you Marko Samec. That video of beautiful Sofia was wonderful. We have a new life in our family with the same condition. She is now 21 days old and this gives us more hope along with our faith and prayers and trust in God. Ty.

  • Should there not be a law against discrimination towards these babies as with each birth and each effort and each learned piece of info they gain is part of research into this condition and the more you learn the more lives u will save in the end and is that not what was meant by physian heal thy self….I mean they need not judge on life, or who is worth what, and how much, that is God’s graceful job, to give life….and they have no right to say no to that life, God ordained it to be as it is….tough doodles if docs don’t like the odds, God knows the odds and who has the skills…..so have u considered going for a All life matters law?

  • What strength you and your family have to allow this special little lady to live the best brightest life she can have. You are all extraordinary people. Her smile is delightful!

  • when i was born they said that i was gonna have this and that i wasn’t gonna live past 6 months old or something and yet i’m 12 years old already.

  • I honestly just want to thank you for sharing your story. I shed a few tears but I know god is able. My family recently was told that my sister baby may have trimosome 13 but we are trusting god no matter what.

  • You are an amazing family. Bless you!
    I want to ask you a question…
    Was Wictoria diagnosed with full form T13 or mosaicism?
    Are child is diagnosed with T13, probably full form. We didn’t get a detailed explanation of the results like we thought we were going to get. I am 23 weeks pregnant, our boy looked great on ultrasound until ten days ago. The doctor’s said they can see some markers but seems like they aren’t sure for 100%. We are getting another ultrasound tmrw.
    I am trying find as much info as I can. I really appreciate your help. Thank you

  • They have come far. My friends child was just diagnosed at 3.5 with 18 and 13. According to her dr, she shouldnt be alive none the less walking and fuctioning even on the level of a one year old. She improves everyday.

  • Thank you for giving me hope. My daughter is having her first baby, my first grand baby. We found out at her anatomy scan something was wrong. She seen a specialist today and the baby is 99% diagnosed with trisomy 13. They offered her abortion but my daughter said no. We are so heart broken and I am just looking for someone to give me hope. Help me find faith. So thank you. ❤️����

  • I know God made a path for you all! I don’t want to assume the outcome because I know either way it’s God’s doing! Thank you for sharing his life!

  • God sends Angel’s down to earth, to teach this world what love really is. u r awesome Wiktoria, along with the rest of the Angel’s in Heaven that come down to earth to touch all our heart’s. I love u.