We would like to share a complex but very illustrative clinical case from the practice of reproductive endocrinologist Dr. Olga Romanova.
A couple from the USA reached out to us. It was important for them not only to achieve a result but also to understand why, for many years, pregnancy had never occurred.
The woman is 48 years old, with no children. The couple has been in the same relationship and trying to conceive since age 30.
Medical History:
- Two spontaneous miscarriages before 12 weeks.
- 7 IVF programs between the ages of 39–44 without success.
- Two surgeries for uterine fibroid removal, resulting in cicatricial deformation.
At the time of consultation, the indicators were as follows:
- AMH — 0.01 ng/ml
- FSH — 46 IU/L
Effectively, this meant an exhausted ovarian reserve and direct indications for using donor oocytes and a surrogacy program.
However, the couple’s history raised another question: why was it impossible to achieve a stable pregnancy even at a younger age?
The Analysis That Was Missing Throughout the Long Period of Treatment
Before starting the program, we reviewed previous examinations. There were many of them. Only one was missing — the male partner’s karyotyping. The entire focus had been directed toward the female factor of infertility.
We performed the study before fertilization.
As a result, mosaicism for trisomy 21 (Down syndrome) was detected. Phenotypically, the man was completely healthy, with no external manifestations.
In clinical practice, this is a rare situation: for example, when approximately 60–80% of cells have a normal karyotype, and 40–20% have trisomy 21. A person can lead a normal life, but such mosaicism significantly affects the genetic quality of embryos.
This allowed for a retrospective explanation of:
- repeated IVF failures at a younger age,
- failure of embryo implantation,
- early pregnancy losses.
Treatment Program
The following strategy was chosen:
- use of donor eggs,
- ICSI,
- PGT-A (preimplantation genetic testing to exclude chromosomal abnormalities in embryos),
- embryo transfer within a surrogacy program.
- 20 donor eggs were used.
- 8 embryos reached the blastocyst stage.
- After genetic testing — only one was euploid (a chromosomally healthy embryo).
This specific embryo was transferred to the surrogate mother.
IVF Program Result:
A pregnancy occurred, which concluded with the birth of a healthy, full-term baby girl.
What this case demonstrates:
- Even after many years of treatment, undiagnosed factors may remain.
- Karyotyping of the couple sometimes provides the key to understanding previous failures.
- Mosaicism without phenotypic manifestations may not affect daily life but can significantly impact embryos.
- In complex situations, the strategy of “donor oocytes + PGT-A + surrogacy” makes it possible to achieve a result.
- Sometimes, a single genetically healthy embryo becomes decisive.
In this case, the important factor was not just the choice of technology, but a careful review of what had already been done. Sometimes, one missing analysis can explain years of unsuccessful treatment and help choose the correct strategy from the start.
