Improving Egg Quality and Recurrent Pregnancy Loss: the benefit of Genetic Testing
https://www.fertstert.org/article/S0015-0282(24)02302-1/fulltext?dgcid=raven_jbs_etoc_email
RPL is a facet of my practice. Women come to me with a history of miscarriage searching for insight and a solution to help them maintain a pregnancy. They often feel ignored or brushed off to their experiences. As women delve into western medicine, they find limited solutions to this difficult emotional situation.
Women with multiple miscarriages have many questions about:
Can my well being be reflected into my fertility?
How can I improve my egg quality?
How do I enhance the receptivity of my uterus?
Could autoimmune disorders be a problem?
Does genetic testing of embryos make a difference?
RPL is a multifaceted topic and this solid research article gives clear answers around genetic testing. Hopefully this article will help you figure out if genetic testing is a firm solution to advocate for yourself.
Recurrent Pregnancy Loss (RPL) - Is a loss of 2 or more pregnancies before 20 weeks. 50% of recurrent miscarriages remain unexplained.
Let’s go over terminology:
What is PGT-A (pre-implantation genetic testing) - is genetic testing of embryos created by IVF. The genetic testing is looking for abnormal chromosomal issues.
When PGT-A is negative, an embryo is chromosomally healthy.
A genetically healthy embryo is euploid.
When PGT-A is positive, an embryo is positive for chromosomal issues (genetically abnormal).
When an embryo is chromosomally abnormal, it is called aneuploidy.
What is POC (products of conception)? POC is the tissue that is released when a miscarriage is happening.
POC testing is a genetic testing of miscarriage tissue for abnormal chromosomal problems with the pregnancy.
CMA - 23 (chromosome microarray) is a next level of genetic testing of POC. It can utilize non tissue cultures, non viable miscarriage tissue. CMA-23 rules out maternal cell contamination and reduces false negative results.
NGS (next generation sequencing) is a third layer of genetic testing of POC and can sequence large amounts of dna.
This particular research article is a review of previous research articles pertaining to RPL and the objective of the article was to figure out if genetic testing of POC and preimplantation genetic testing of embryos with unexplained RPl would provide the best outcomes.
Different aspects of RPL were explored to evaluate if PGT would be a benefit. These subgroups of RPL women/couples were examined.
There was a likelihood of having a live birth from a spontaneous pregnancy depending on maternal age and the number of prior losses.
whether women with unexplained RPL's have a higher rate of an aneuploidy embryo which the article indicates probably not.
Euploid (healthy embryos coming from PGT)have comparable live birth rates in women with RPL and non RPL women.
The endometrium was not less selective in women with RPL.
PGT leads to an increase in live birth rates and a decrease to loss in women with RPL.
The article is proposing genetic testing POC with POC/CMA/NGS in miscarriages to analyze for genetic quality. It was reported that aneuploidy miscarriages in patients with RPL is the same as it would be for non RPL women, which is about 58% for both groups. This indicates genetic abnormalities explain more than 50% of RPL.
Of RPL, there’s 57% of unexplained cases. The authors state with appropriate testing 90% of these cases can be explained.
90% of (the 57%) of RPL can be explained with POC, CMA and standard RPL workup (blood work and examination). These steps can provide information redirecting the treatment process for a woman dealing with RPL. The women/couple would probably benefit from IVF and PGT for the quality of the embryo.
41% of RPL women have a normal evaluation but POC testing comes back with abnormal chromosomal issues. It can be suggested on the basis of maternal age, six months of management followed by IVF/PGT.
For couples where the POC testing leads to information about an unbalanced translocation or inversion of genetics would benefit from enetic counseling and discussion of management and moving into IVF/PGT.
.Approximately 34% of women with euploid (healthy embryo) come back with some kind of abnormal RPL workup should have 6 months of corrective management first. Since the POC testing indicates euploid pregnancy, PGT is not needed. Women with advanced maternal age, decreased ovarian reserve or male factor, IVF/PGT is recommended.
14% of women with aneuploidy (chromosomal issues with embryo) and positive RPL workup. The woman will receive corrective treatment to address her RPL issues for 6 months. After 6 months, it is recommended to move forward with IVF/PGT.
Of all RPL cases only 8% of those cases are unexplained. When RPL workups are completely negative and POC testing indicates no chromosomal issues, the woman should be considered for investigational new therapies such as immunological therapy and heparin.
The authors recommended next thoughts for management:
Clarity around the definition of pregnancy is needed: such as a positive pregnancy test without ultrasound documentation or histopathology.
I find this statement to be interesting since patients (who came to me) in the past who have had a positive pregnancy home test and lose the pregnancy shortly afterwards. Often their pregnancy test is not acknowledged by doctors and classified as a chemical pregnancy - thus not deemed a real pregnancy.
It was suggested POC/CMA/NGS be included as a tool for clarity when a woman experiences more than two miscarriages.
Women who wanted to get some sort of testing of POC material to understand why this miscarriage happened. Yet, they butt up against resistance and a lack of flexibility from western medicine being open to that process. I believe women would be relieved to have POC testing as a treatment option.
PGT-A offered as a tool to improved the live birth rate for RPL women/couple.
When women have several miscarriages, PGT testing is a sensible option for them. If PGT improves the live birth rate, it would only be reasonable for insurance to cover the cost.
If you are seeking advice on how to handle your fertility or looking to address your egg quality, reach out to me. I can provide insight and support for you on the journey to have a baby.
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