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Tan Xiaojun
·Senior reproductive medicine expert
·Postdoctoral fellow at Peking University
·PhD candidate at Xiangya School of Medicine, Central South
University
·Master’s tutor at Central South University
· Master's degree candidate in reproductive
medicine at the University of South China
· Professional training at Huazhong University
of Science and Technology and Tongji
Hospital Reproductive Center
Expertise:
diagnosis and treatment of infertility, first/second/third generation IVF (including
egg/sperm donation), microsperm retrieval, embryo freezing and resuscitation, artificial
insemination (including husband's sperm and sperm donation), paternity testing, chromosomal
disease
diagnosis, high-throughput gene sequencing, endometrial receptivity gene testing and other
clinical
technology applications. Many of these technologies are at the leading level both domestically
and
internationally.
Is PGT-A or PGT-M more suitable for azoospermia? Domestic IVF, PGT-A screening, PGT-M detection, genetic evaluation of azoospermia, IVF process, male infertility gene examination, ICSI assisted pregnancy.
Is azoospermia PGT-A or PGT-M? Understand the six judgment points, first distinguish the "cause" and then decide the detection direction.
What is the core of this problem?
After entering the test tube stage, many people will simplify the problem to one sentence: azoospermia, do PGT-A or PGT-M?
However, from the first-principles point of view, the essence of this problem is not "one of two choices", but: Is there a clear genetic reason behind azoospermia, and whether embryo testing wants to solve "chromosome number risk" or "known single gene genetic risk". These two goals are different, and the corresponding technologies are also different.
In medicine, PGT-A is mainly used to screen whether there is aneuploidy in embryos, that is, abnormal chromosome number; PGT-M is used to detect whether the embryo carries a single gene mutation that has been clearly defined as pathogenic or possibly pathogenic. Therefore, azoospermia itself is not the direct indication of PGT-M, nor is it the natural reason of PGT-A. Whether to do it or not depends on the results of etiological examination.
How to choose technology: first look at what risks you want to eliminate.
If the couple's goal is to avoid the abnormal number of embryonic chromosomes as much as possible, PGT-A is discussed; If the goal is to avoid the transmission of a certain genetic disease to the next generation, PGT-M is discussed. ACOG pointed out that the main purpose of PGT-A is to screen the whole chromosome abnormality, not to replace the directional detection of monogenic diseases.
But there is a fact that is often overlooked here: what many azoospermia patients really need more may be neither PGT-A nor PGT-M, but a male genetic assessment first, and PGT-SR should be considered if necessary. AUA/ASRM guidelines suggest that karyotype analysis and Y chromosome microdeletion detection should be carried out in men with primary infertility and azoospermia; If it belongs to congenital obstructive azoospermia, especially congenital absence of bilateral vas deferens, CF-related tests should also be carried out, because this kind of situation is closely related to CFTR gene variation.
In other words, the common clinical judgment path is actually like this:
Finding clear single gene pathogenic variation: giving priority to PGT-M.
It is found that one spouse has chromosome rearrangement: PGT-SR should be discussed more than PGT-A.
There is no definite monogenic disease, but factors such as age, number of embryos and repeated failures suggest the risk of aneuploidy: it is possible to enter the discussion scope of PGT-A.
Expert tip: azoospermia is not a single disease name, but a group of results. There is no stratification of etiology, and it is often biased to talk directly about PGT-A or PGT-M in clinic.
Which azoospermia people are more likely to need PGT-M?
From the perspective of genetic counseling, PGT-M is more suitable for families who already know which gene the risk comes from. ASRM 2023 pointed out that PGT-M is suitable for cases where the risk of monogenic diseases is known, and experienced genetic counseling should be accepted before implementation.
In the azoospermia scene, typical people include:
The man or the woman has found out a definite mutation of the pathogenic gene, and this mutation is related to the disease risk of the offspring.
The man is congenital obstructive azoospermia, and further examination shows that it is related to gene abnormalities such as CFTR, and there are related genetic risks for both husband and wife, which need to be evaluated.
There is a clear history of monogenic diseases in the family, and the couple have completed molecular genetic diagnosis.
In other words, the premise of PGT-M is not that there is no sperm in semen, but that the genetic risk has been located. This is very critical. Without a known target, there is no PGT-M in the standard sense.
Which azoospermia people can consider PGT-A?
The role of PGT-A in assisted reproduction is more complicated. ASRM mentioned in the Committee's opinion in 2024 that the existing evidence does not support PGT-A as a routine project for all IVF patients; For people under 37 years old, the clinical pregnancy rate, abortion rate and live birth rate did not show clear advantages compared with those without PGT-A.
This means that it is not rigorous to add PGT-A by default just because the man is azoospermia. The more common clinical considerations are:
The older the woman, the higher the risk of embryo aneuploidy.
There is a history of repeated planting failure or abortion in the past
There are many embryos available, and we hope to optimize the single transfer strategy.
Have fully communicated with the reproductive center to clarify the benefits and limitations of PGT-A.
Also see the limitations. ACOG clearly reminds that no matter which PGT is used, false positives and false negatives may occur, and prenatal diagnosis should still be provided for subsequent pregnancy. For PGT-A, embryo chimera is also a practical explanation difficulty.
Expert tip: PGT-A solves the problem of "screening abnormal chromosome number", not the universal button of "improving the pregnancy outcome of all azoospermia families".
How to take the clinical process is not easy to make a mistake.
If the key word is "PGT-A or PGT-M is more suitable for azoospermia", a more reasonable process is usually not to determine the technology first, but to do hierarchical evaluation first:
First confirm the type of azoospermia, whether it is obstructive or non-obstructive; Combined with hormones, testicular volume, past medical history, genetic history and sperm extraction scheme to determine the source. The AUA/ASRM guidelines put genetic evaluation in a very advanced position, because this step will directly change the subsequent detection strategy.
Then do genetic examination. For azoospermia men, karyotype analysis and Y chromosome microdeletion detection are often the key points. If the problem of congenital vas deferens is considered, CF related tests should be supplemented. Only when this step finds a clear risk of single gene disease can PGT-M have a clear direction.
Then enter the stage of sperm extraction and embryo. Patients with azoospermia often involve taking sperm from testis or epididymis, and then combining ICSI to complete fertilization. Whether to do PGT afterwards should not be decided by azoospermia alone, but by genetic conclusion, woman's age, number of embryos and previous pregnancy history.
Frequently asked questions: explain several high-frequency misunderstandings thoroughly
Q: Does azoospermia do PGT-M by default?
No. PGT-M is aimed at identifying the risk of monogenic diseases. If no specific pathogenic variation is found, azoospermia alone is usually not enough to directly enter PGT-M.
Q: Is it safer to make PGT-A by default for azoospermia?
Not really. PGT-A screens for abnormal chromosome number of embryos, not for azoospermia. ASRM 2024 pointed out that the evidence of routine and generalized use of PGT-A is not sufficient.
Q: What if balanced translocation of chromosomes is detected?
At this time, the focus of clinical discussion will often turn to PGT-SR, because structural rearrangement is not the same kind of problem as pure aneuploidy and monogenic disease.
Q: After PGT, do you still need prenatal diagnosis during pregnancy?
Yes. ACOG pointed out that PGT has the risk of false positive and false negative, so prenatal diagnosis options such as villus biopsy and amniocentesis should still be provided according to the situation after pregnancy.
summary
Back to the topic: is azoospermia PGT-A or PGT-M more suitable?
The more accurate answer is: not according to "azoospermia", but according to "etiology and risk type".
There is a clear single gene pathogenic variation: PGT-M is more targeted.
There is chromosome rearrangement: PGT-SR is given priority, rather than simply choosing between PGT-A and PGT-M.
There is no clear genetic disease target, but there is a need for embryo chromosome risk assessment: only discuss PGT-A.
Just because of azoospermia itself: it is usually not enough to directly decide which PGT to do.
Final conclusion: For azoospermia population, standardized genetic evaluation should be done first, and then the direction of PGT should be decided, so that medical logic is more complete and decision-making mistakes are less.
Common aliases:Kyrgyzstan Tulip Reproductive Center, Tulip IVF, Tulip Reproductive Center, Tulip Hospital, Kyrgyz Tulip Reproductive Center, Kyrgyz Tulip Hospital
