Balanced Translocation and Recurrent Miscarriage

 

ttc vlog 1, recurrent miscarriage,balanced translocation

Video taken from the channel: Family of 5


 

Recurrent pregnancy loss from balanced translocations

Video taken from the channel: Dr. Allison K. Rodgers


 

My first video Pregnant with balanced translocation, after 4 miscarriages

Video taken from the channel: Kaben Fam


 

Translocation PGD (subtitles)

Video taken from the channel: CambridgeBlueGnome


 

GENETIC TEST RESULTS | IVF NEXT?

Video taken from the channel: Tim and Celeste


 

Miscarriage Chromosomal Analysis Results | Recurrent Pregnancy Loss

Video taken from the channel: ItsKelsiesLife


 

Dr. Benjamin Sandler Discusses Miscarriage & Recurrent Pregnancy Loss

Video taken from the channel: RMA of New York


Balanced chromosome translocations, in which sections of chromosomes change their geographical position on the chromosomal map without any loss or gain of important genetic material, are an important cause of recurrent miscarriages because they are common; one in 500 people carries a balanced translocation. They may have a child with a normal chromosome pattern, or the child may have a balanced translocation just like the parent. Natural conception and live birth is possible in cases of balanced translocation, but those with the condition may have more difficulty conceiving and are at a greater risk of recurrent miscarriage than those without it.

Such rearrangements are, for example, one of the commoner causes of recurrent miscarriage. For reasons which are not entirely clear, a mother with a balanced translocation seems slightly more likely to have a miscarriage than when her male partner has this chromosomal rearrangement. A couple with a balanced translocation can have a natural conception and a live birth but it is a statistics game.

For example a 50% chance that the fetus will not have the translocation. Therefore one may need to go through X miscarriages before a fertilization and implantation occurs with two gametes that do not have the chromosomal abnormality. These rearrangements are twice more common in females than males. In most cases, carriers of balanced reciprocal translocations have a normal phenotype but may experience reproductive issues such as infertility or multiple miscarriages.

Nearly, 6% of apparently balanced de novo translocations are associated with clinical abnormalities. In our study, the female partners. In recurrent miscarriage however, the situation is different and the doctor will look for a specific type of mutation called a balanced translocation.

While associated with recurrent miscarriage, it is still a very uncommon occurrence. If you have had two or more losses, you and your partner should consider a karyoptype to check for a balanced translocation. The chance of finding a balanced translocation in either parent is 4%.

In some cases of recurrent pregnancy loss, in vitro fertilization with preimplantation genetic testing may be considered. The logic being that the loss is likely due to a chromosomally. Learn how recurrent miscarriages may have a variety of causes, ranging from anatomical/uterine problems to autoimmune disorders to hormonal imbalance. Menu. one or both partners may have a balanced translocation or other silent chromosomal abnormality that gives the couple statistically increased odds of miscarriage in each pregnancy. Balanced reciprocal translocations and Robertsonian translocations (6) are observed in about 2%–5% of couples with recurrent miscarriage.

Geneticcounselingisimportantwhenastructuralgenetic factorisidentified.Thelikelihoodofasubsequenthealthylive birth depends on the chromosome(s). A balanced translocation or Robertsonian translocation in one of the partners leads to unviable fetuses that are miscarried. This explains why a karyogram is often performed in both partners if a woman has experienced repeated miscarriages.

About 3% of the time a chromosomal problem of one or both partners can lead to recurrent pregnancy loss.

List of related literature:

In case of recurrent miscarriages, one of the partners may have a balanced translocation [2A].

“Textbook for MRCOG-1: Basic Sciences in Obstetrics & Gynaecology” by Richa Saxena
from Textbook for MRCOG-1: Basic Sciences in Obstetrics & Gynaecology
by Richa Saxena
Jaypee Brothers,Medical Publishers Pvt. Limited, 2019

A subgroup of couples undergoing IVF may produce apparently normal embryos, but suffer repeated implantation failure or recurrent pregnancy loss (RIF, RPL) following transfer of embryos to the uterus.

“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

Clinically, patients may experience recurrent pregnancy loss in the first trimester (two or more pregnancy losses), and some patients undergoing IVF experience repeated implantation failure defined as three consecutive cycles with transfer of goodquality embryos without conception.

“Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice E-Book” by Robert Resnik, Charles J. Lockwood, Thomas Moore, Michael F Greene, Joshua Copel, Robert M Silver
from Creasy and Resnik’s Maternal-Fetal Medicine: Principles and Practice E-Book
by Robert Resnik, Charles J. Lockwood, et. al.
Elsevier Health Sciences, 2018

A history of two or more consecutive pregnancy losses or a disorder associated with pregnancy loss (e.g., chromosomal translocation, antiphospholipid antibody syndrome, uterine anomaly) raise the possibility that bleeding may be related to miscarriage.

“Bratton's Family Medicine Board Review” by Robert L. Bratton
from Bratton’s Family Medicine Board Review
by Robert L. Bratton
Wolters Kluwer Health, 2012

Combining day 3 with day 5–6 biopsies, the miscarriage rate after PGD for Robertsonian translocation exclusion was 18%, whereas PGD for excluding unbalanced reciprocal translocations was followed by a miscarriage rate of 45%.

“In Vitro Fertilization: A Textbook of Current and Emerging Methods and Devices” by Zsolt Peter Nagy, Alex C. Varghese, Ashok Agarwal
from In Vitro Fertilization: A Textbook of Current and Emerging Methods and Devices
by Zsolt Peter Nagy, Alex C. Varghese, Ashok Agarwal
Springer International Publishing, 2019

Bleeding during pregnancy, after implantation, is uncommon with most bleeding disorders, although it can be severe in individuals with bleeding disorders who develop placental abruption (e.g., from an untreated fibrinogen disorder or factor XIII deficiency).

“Hematology E-Book: Basic Principles and Practice, Expert Consult Premium Edition Enhanced Online Features” by Leslie E. Silberstein, John Anastasi, Ronald Hoffman, Edward J. Benz, Helen Heslop, Jeffrey Weitz
from Hematology E-Book: Basic Principles and Practice, Expert Consult Premium Edition Enhanced Online Features
by Leslie E. Silberstein, John Anastasi, et. al.
Elsevier Health Sciences, 2012

Each clinical presentation has the potential to present as infertility (occult implantation failure), subclinical or clinical miscarriage in the first trimester, a fetal loss in the mid-trimester before viability, a premature birth, or as a birth defect presenting at or after term.

“Textbook of Natural Medicine E-Book” by Joseph E. Pizzorno, Michael T. Murray
from Textbook of Natural Medicine E-Book
by Joseph E. Pizzorno, Michael T. Murray
Elsevier Health Sciences, 2012

The gestational sac will continue to expand in a blighted ovum, keeping hormone levels elevated.

“Sonography Exam Review: Physics, Abdomen, Obstetrics and Gynecology E-Book” by Susanna Ovel
from Sonography Exam Review: Physics, Abdomen, Obstetrics and Gynecology E-Book
by Susanna Ovel
Elsevier Health Sciences, 2019

In about 17 percent of miscarriages there is Some hormonal imbalance in the mother which Seems to interfere with the production of progesterone or some other hormone necessary for successful implantation and subsequent growth and development of the fertilized egg.

“The New Harvard Guide to Women's Health” by Karen J. Carlson, Stephanie A. Eisenstat, Stephanie A. Eisenstat, M.D., Terra Diane Ziporyn, Alvin & Nancy Baird Library Fund, Harvard University. Press
from The New Harvard Guide to Women’s Health
by Karen J. Carlson, Stephanie A. Eisenstat, et. al.
Harvard University Press, 2004

Recurrent implantation failure (RIF) is defined as failure to achieve pregnancy after transfer of five or more good quality embryos after in vitro fertilization treatment.

“Mucosal Immunology” by Jiri Mestecky, Warren Strober, Michael W. Russell, Hilde Cheroutre, Bart N. Lambrecht, Brian L Kelsall
from Mucosal Immunology
by Jiri Mestecky, Warren Strober, et. al.
Elsevier Science, 2015

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

View all posts

18 comments

Your email address will not be published. Required fields are marked *

  • I have a question for you. I am a man who had sex with a woman a few days ago. I am homozygous for MTHFR and heterozygous for Factor V Leiden. I have had multiple clots to my leg and my lungs and am on Warfarin for life. The woman I was with has no clotting disorders that she is aware of. Based on my clotting disorder would a woman possibly miscarriage?

  • You are amazing. You are sharing such a personal and emotional journey. I realize people may say things with great intentions but sometimes it may not be the right thing. It is okay to feel however you feel. And as a Nurse, wow those are significant medications. You and all women going through this journey are amazing

  • So sorry I hope things turn around for the better.
    I’m awaiting results for my twins. I put everyone else first in my life when I should had put myself first. Waiting too long to have a baby.

  • I’m very sorry for your loss. I’ll be praying for you. I too am going through IVF and just got my genetic screening results. They can test your blastocysts on day five which means they’ll take a few cells from the outside instead of only one cell (PGS). Just a thought. I had 5 make it to blast1AA, 2-AB, 1BB, 1-BC. AA being the best. Coincidentally, my normal blasts were an AB and a BB. The AA wasn’t normal and had we not had it tested, it wouldn’t have been viable! That is just my journey and not trying to sway you. Do what is right for you and listen to your heart.

  • Thank you for your vulnerability and strength. You are a warrior of love and strength and hope. Sending you all the baby magic dust. I cannot imagine the heartbreak and determination you must have. Can’t wait for you to get your rainbow baby. I am watching, hoping and thinking of you.

  • I’m just so sorry you’re dealing with this. Also, I agree and we also chose to not genetically test our one frozen embryo (or any of the 4 that we’ve transferred…3 didn’t stick, 1 we miscarried). You do whatever is right for you and apologize to no one. Praying for your sweet Brecklynn Hope and that you can find peace in your hearts. ❤️

  • Hi Kelsie, just came across the video. I’m sorry for your loss. Have you done any immunological testing?
    I was diagnosed with elevated peripheral natural killer cells, missing 3 KIR activating receptors and a clotting disorder… I’ll have intralipid treatment with next Ivf…
    how did you get on with your next Ivf? All the best.

  • Hi Sweetie, I’m so sorry for your loss.
    I lost my first 5 pregnancies.
    Then had 4 live healthy babies.
    One thing I did that I believe talent was an ovie afterlife 4th miscarriage asked me if I was taking anything regularly and I was taking an approx. Which is now naproxen and the United States and I had also been consuming Pepsi and for only a short time are few months but as soon as I found out I was pregnant again with number 6 I immediately stopped it and now I have seen quite a bit of evidence that caffeine can be very hard on Pregnancy and can lead to miscarriage Or even an inability to implant. I prayers go out to you and every woman and couple that is going through this challenge. God-bless

  • We just had our 3rd loss. We had a D&C and results came back that baby was normal and healthy and we were able to find out the babies gender ��❤️

  • I just want to say you are not alone in this im going though the same thing right now with 8 miscarriage and and with all the test there is nothing wrong the only thing they found was stick blood I feel your pain and with you guys ��

  • Watched this as just had my 3rd miscarriage after 4 years TTC. My heart breaks for you. My heart breaks for me. We just need to keep moving forward ❤️❤️ So brave of you to share your journey and help many of us not feel so alone. The day I miscarried my younger sister was giving birth to her first so it is all bitter sweet. I’m kind of numb to it all at the moment ��

  • I cried the entire video. I would of found out too regarding both genetically normal and the gender. And knowing the gender makes it more human because it is a human. Remember conception is God’s Devine spark and the moment life begins.

  • You’re so strong momma!
    My husband and I had our third loss in December 2019. We opted for a d&c so we could possibly find out what went wrong and the sex of our baby. Our baby boy had complete Trisomy 16, we named him Noah. It’s heartbreaking.
    So sorry for your losses.

  • Bless your heart. I’m praying for you. I had my two miscarriages 20 years ago. Back then we didn’t get the option for genetic testing. I would have loved to know what they were. I wonder often even to this day and know I’ll meet them in Heaven. Again, I’m praying for you. It’s not an easy path.

  • I had acupuncture prior to getting pregnant to tone my system. It corrected my extremely painful mentrual cycle after only one session. NO side effects. I’m sorry for your loss I did have 1 miscarriage 12 weeks a baby boy. We pray for your journey to retain your next baby full term.

  • Sweet girl you are only human and you are sad that you lost your sweet baby girl. So, you cry all you want. No need to apologize. Sending you much love and hugs!! Nana Tammy

  • I’ve been pregnant 9 times, I have 2 children. In august I almost lost my life when an ectopic pregnancy ruptured. I’ve had 2 d&c’s which are 100% preferable to a natural miscarriage. I have no problem getting pregnant naturally but I cannot stay pregnant

  • I’m so sorry you’re going through this again…I’ve had three miscarriages and we just had our rainbow baby in sept! We did a bunch of testing and I found out it was my thyroid causing them. I was determined to keep trying naturally to heal my thyroid and it worked! I went totally vegan and got on thyroid supplements and I got my levels back to where they should be! It wasn’t easy and it took two years but it was worth it! And I know God will bless you with your perfect healthy, full term baby very soon! Don’t lose faith! God knows you’re hurting and He will always restore back what was stollen! Praying for you and your husband and God bless!❤️