PGT-A Case Studies

Case 1: Couple with a history of recurrent miscarriages

Age of the patients:

Mother: 35 years old

Father: 37 years old

Number of embryos not suitable for transfer due to genetic faults:

Out of a total of 10 embryos analyzed, 6 were deemed unsuitable due to aneuploidies and other chromosomal abnormalities.

Embryo grading:

The 4 embryos suitable for transfer were graded as follows:

·                 1 AA grade embryo: Excellent quality, high implantation potential.

·                 2 AB grade embryos: Good quality, good implantation potential.

·                 1 BB grade embryo: Medium quality, reasonable implantation potential.

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Case details:

The couple, with a history of multiple miscarriages, sought help to conceive a healthy child. After several diagnostic tests, it was discovered that the mother had a chromosomal abnormality known as balanced translocation. This condition involves an exchange of genetic material between two chromosomes without a net loss or gain of genetic material. However, the altered arrangement of chromosomes can interfere with normal embryonic development and increase the risk of miscarriages. For example, in a balanced translocation, a part of one chromosome can attach to another unrelated chromosome. If this occurs in a critical region of the genome affecting early embryonic development, it can lead to recurrent miscarriages due to the embryo's inability to develop properly.

In this case, the mother had a balanced translocation, identified as the cause of the recurrent miscarriages. The recommended treatment was an IVF cycle with preimplantation genetic testing for aneuploidy (PGT-A). This technique allowed the identification of embryos without chromosomal abnormalities for uterine transfer, thereby reducing the risk of miscarriage. Thanks to this approach, the couple achieved a successful pregnancy and ultimately, a healthy baby was born.

Case 2: Couple with a family history of hereditary genetic disease

Age of the Patients:

Mother: 32 years old

Father: 34 years old

Number of embryos not suitable for transfer due to genetic faults:

Out of a total of 8 embryos analyzed, 6 were considered unsuitable due to the presence of the cystic fibrosis gene mutation and/or chromosomal abnormalities.

Embryo grading:

The 2 embryos suitable for transfer were graded as follows:

·                 1 AA grade embryo: Excellent quality, high implantation potential.

·                 1 AB grade embryo: Good quality, good implantation potential.

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Case details:

The couple, with a family history of a hereditary genetic disease, sought help from Clínica Tambre to avoid passing the disease to their offspring. After consulting with the specialist, they opted for an IVF cycle with preimplantation genetic testing for aneuploidy (PGT-A) to select embryos free of the specific genetic mutation. The family history involved cystic fibrosis, an autosomal recessive genetic disease primarily affecting the lungs and digestive system. In couples where both are carriers of a gene mutation, there is a significant risk of passing cystic fibrosis to their offspring.

During the IVF process, after fertilizing the eggs with sperm in the lab, a biopsy of the developing embryos' cells was performed. These cells were analyzed to detect the presence of specific gene mutations causing cystic fibrosis and to evaluate their chromosomal status. Out of the 8 embryos analyzed, 2 embryos did not carry the genetic mutation and had a normal number of chromosomes. These embryos were selected for transfer to the woman's uterus.

The selection of these embryos significantly reduced the risk of the child inheriting the disease and increased the chances of a successful pregnancy and the birth of a healthy baby.

This case illustrates the critical role of genetic analysis in preventing the transmission of hereditary genetic diseases. At Clínica Tambre, with over 45 years of experience, we use advanced techniques like PGT-A to increase the chances of a successful pregnancy and ensure the birth of a healthy baby, free from genetic diseases.

Case 3: Older woman seeking to maximize the chances of a successful pregnancy age of the patient:

Woman: 41 years old

Number of embryos not suitable for transfer due to genetic faults:

Out of a total of 12 embryos analyzed, 8 were considered unsuitable due to chromosomal abnormalities.

Embryo grading:

The 4 embryos suitable for transfer were graded as follows:

·                 1 AA grade embryo: Excellent quality, high implantation potential.

·                 2 AB grade embryos: Good quality, good implantation potential.

·                 1 BB grade embryo: Medium quality, reasonable implantation potential.

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Case Details:

The patient, a 41-year-old woman wishing to become a single mother, came to Clínica Tambre seeking her first pregnancy. Given her advanced age and decreased ovarian quality, she opted for fertility treatment. It is well-documented that a woman’s advanced age is associated with a higher risk of chromosomal abnormalities in fetuses, such as Down syndrome. To maximize her chances of a successful pregnancy and reduce the risk of age-related chromosomal abnormalities, her specialist recommended IVF with preimplantation genetic testing for aneuploidy (PGT-A).

PGT-A is an important tool for older women seeking to conceive through fertility treatments, as it helps select chromosomally normal embryos. This reduces the risk of miscarriages, improves implantation and pregnancy rates, and decreases the likelihood of chromosomal abnormalities in the fetus. During the IVF process, after the eggs were fertilized with donor sperm in the lab, a biopsy of the developing embryos' cells was performed. These cells were analyzed to evaluate their chromosomal status.

Out of 12 embryos analyzed, 8 were found to be chromosomally abnormal. The remaining 4 embryos, which were chromosomally normal, were graded for their quality. The transfer of these high-quality embryos resulted in a successful pregnancy and the birth of a healthy baby.

From the age of 35, the quality of a woman’s eggs tends to decline. This decrease in ovarian quality can lead to an increase in the incidence of chromosomal abnormalities in the eggs, such as trisomy 21 (Down syndrome) and other aneuploidies, which are common causes of miscarriages and difficulties in conceiving.

This case highlights the effectiveness of genetic analysis in helping older women achieve successful pregnancies. At Clínica Tambre, we employ advanced techniques like PGT-A to increase the chances of a successful pregnancy and the birth of a healthy baby, even for women of advanced maternal age.