There are many stories similar to that of Aneta and Paweł. Young people with aspirations and their heads in the clouds met during their last university term. Immediately after graduation, they moved in together. They did not think about setting up a family; work and ensuring a good start into the adult life, for obvious reasons came to the fore. They married for sake of their parents – they did not need such evidence of love themselves. They were a compatible and close-knit, but overworked couple.

Aneta became uneasy for the first time when her colleague, Ewa confided to her that she had not been able to get pregnant for over 6 years. Treatment, subsequent diagnoses, two attempts at in vitro. Shock. It turned out that Ewa and her husband had minimal chances of their own children, and therefore were considering adoption. Contrary to popular belief, this is not a light decision… Aneta did not know how to react. She said only that it would be fine. To this day she remembers how she came back from the meeting with a head full of thoughts… Will it be the same with her and Paweł? They lived in a rush, they never thought about their fertility, they had preventive check-ups done from time to time, rather rarely… Although so far they agreed it was not yet time for setting up the family, Aneta did not take into account that she could not children at all.
After returning home, Paweł immediately sensed the partner’s mood. Aneta began to cry. She shouted at him all her fears, she blamed herself and him that none of them had mentioned the issue of parenthood before. She was afraid that she would share the fate of her friend. She was 31 years old, so her fears seemed unfounded. Older women were able to become pregnant and reach a happy delivery – she calmed herself down. The fatalistic thoughts returned, however, like a boomerang.

The breakthrough decision of Paweł and Aneta

They talked all night and finally decided: yes, this is the time. They want to have a baby. It turned out that Paweł had long dreamed of a larger family, but he knew how important the professional development and career were for Aneta. He did not want to lean on her, he wanted to give her a free hand. The first year was devoted to natural attempts. Without results. Aneta really did not want to share the fate of Ewa. She was afraid to do the tests. Time was passing… After another year of fruitless efforts it was Paweł who took the decision – he made the appointment at the clinic dealing with infertility. Unfortunately, already the first tests indicated that the problem lies with him. The semen analysis showed no sperm in the ejaculate. After repeating the tests, doctors had no doubt – it was azoospermia. Aneta’s test results were normal. The woman could not come to terms with the painful diagnosis. Their only chance of pregnancy was in vitro fertilisation. They decided to fight for their happiness and trust the doctors. They began the procedure.

Azoospermia and genetic changes

During the testicular biopsy ordered by the doctor, few spermatozoa were obtained with the potential for in vitro fertilisation. The genetic diagnostic tests revealed that Paweł had microdeletions in the AZF region. Therefore, the doctor – as part of in vitro fertilisation – recommended that PGD preimplantation diagnosis be carried out. This meant that the embryos resulting from their germ cells would be tested for genetic changes. The specialist provided the couple with a lot of valuable information – that the clinic uses the most modern methods of DNA analysis, that it has more than 10 years of experience and it has already helped many thousands of patients. For Aneta and Paweł the most important, however, was the fact that PGD could increase their chances of having a healthy baby. The first collection of ova took place in July. Aneta – full of doubts – decided that she would try only once. If that attempt failed – she would give up. She was afraid of the whole in vitro process – also from a medical point of view. She did not want to experience further pain and stress. They were very lucky. The embryos’ test result was normal – no changes in the chromosomes were detected. Aneta breathed a sigh of relief. Everything was going according to plan, there were no complications. It worked at the first try, and after 9 months the woman gave birth to a healthy son – Antek. Finally, their life became full. The couple dreamed, however, of two children. Aneta was an only child and she wanted her son to have a soul mate. After two years – full of enthusiasm and new energy that her motherhood gave her – she convinced Paweł that they should fight for their second blessing. They had to repeat the panel of first-time diagnostic tests. The results were not as optimistic as three years earlier. The tests demonstrated a significant reduction in fertility. Aneta was already 36 years old and knew that time was not working in her favour. As for Paweł, once again no sperm was found.

Another attempt

After collecting 9 so-called cumuli 6 mature oocytes were obtained (MII stage). They gave 5 fertilised cells, from which – during their culture up to Day 5 – two blastocysts developed, including 1 which qualified for biopsy.

After the biopsy the embryo was frozen, and the collected material was sent to the genetic laboratory to examine all the chromosomes using the innovative NGS technique. This time, the test result was abnormal – aneuploidies were detected within chromosomes 2 and 14. Although Aneta and Paweł were full of concerns, they decided on another attempt… assuming it will be the last one. This time, 6 from 9 fertilised ova were subjected to biopsy. The numbers instilled optimism… In four embryos no chromosomal abnormalities were detected. Two of them were given to Aneta, one unfortunately ceased to grow, the last one was frozen.

Once again it worked! Aneta was pregnant. Soon, her second miracle – Jaś – was born. Today, she often goes back to past events – she wonders how she got the strength for further tests, attempts, waiting for information. Would she manage today? She knows that it was worth it. Together with Paweł they think about the third child…