THE FAMILY YOU’VE ALWAYS DREAMED OF
GENETIC STUDIES AND FERTILITY COUNSELING
Infertility is defined as the inability to conceive after one year of unprotected intercourse. In approximately 50% of cases, infertility is caused by genetic factors, with chromosomal abnormalities being the most common. For this reason, genetic testing is an essential part of a comprehensive evaluation for couples experiencing infertility.
At fivclínic+, our Clinical Genetics consultation offers various genetic studies for both male infertility and comprehensive genetic counseling. Based on the results, we provide guidance on the reproductive options that best fit your individual situation.
PERSONALIZED FERTILITY TREATMENT
Each patient is unique, which is why each treatment at fivclínic+ is individualized. The first step is to determine the source of infertility in the couple and design the most appropriate IVF treatment. Request an appointment without commitment.
WHAT ARE FERTILITY GENETIC STUDIES?
Many couples facing fertility issues spend years searching for effective treatment options. In many cases, specific genetic tests can help identify or narrow down the cause of infertility. This allows the couple to understand their chances of achieving a full-term pregnancy. Identifying the cause of infertility enables personalized and informed counseling, which can be tailored to the needs of those seeking medical support.
At fivclínic+, in addition to performing various diagnostic tests, we provide counseling to couples in whom we detect a chromosomal abnormality or genetic mutation. This helps them avoid the risk of having children with developmental issues, disabilities, or future infertility.
WHAT TYPES OF FERTILITY GENETIC STUDIES DO WE OFFER?
Depending on your family history, or the diseases you may have, different genetic tests can are available:
CYTOGENETIC TESTS
These include conventional karyotype and molecular karyotype tests, which detect chromosomal abnormalities. Chromosomal abnormalities are a significant cause of infertility in many cases.
MOLECULAR GENETICS
These studies are used for the genetic diagnosis of hereditary diseases. The results help identify defects in genes associated with diseases (hereditary monogenic disorders). This allows us to extend genetic testing to at-risk relatives and perform predictive studies, including prenatal or pre-implantation testing.
CARRIER GENETIC STUDY: WHAT IS IT?
Advancements in mass sequencing techniques have revolutionized genetic studies, enabling us to obtain information from multiple genes in a short time. At fivclínic+, we offer carrier genetic studies, particularly important for couples considering reproduction treatments. These studies determine whether both partners carry genes for hereditary diseases, allowing us to provide precise genetic counseling. These techniques are also crucial for diagnosing genetically and clinically diverse conditions.
In a carrier genetic study, over 4,000 mutations responsible for autosomal recessive and X-linked recessive genetic diseases are analyzed.
AUTOSOMAL RECESSIVE DISEASES
These diseases occur when two mutated copies of the same gene are inherited, one from each parent. A carrier of a genetic mutation causing a recessive disease typically does not show symptoms. In fact, everyone carries some recessive genes without ever showing symptoms. If both partners carry mutations in the same gene, there is a 25% chance their child will be affected by the disease.
X-LINKED RECESSIVE DISEASES
X-linked diseases are caused by mutations in genes located on the X chromosome. Women, having two X chromosomes, are usually carriers, while men, with only one X chromosome, are more likely to develop the disease. If a carrier mother passes on the mutated gene, there is a 50% chance that a male child will be affected. A female child who inherits the mutated gene will be a carrier.
For couples at risk of passing on genetic conditions, this information can be invaluable for family planning, as there are options to minimize risks and have healthy offspring.
INFERTILITY STUDY AND DIAGNOSIS
At fivclinic we approach these cases in a personalized and individual way, carrying out a complete diagnostic study to determine the causes that cause infertility and/or repeated miscarriages.
WHAT ARE THE GENETIC CAUSES OF INFERTILITY? CHROMOSOMAL ANOMALIES
In couples struggling with infertility, chromosomal alterations—either numerical or structural—are one of the primary genetic causes. In some cases, genetic mutations at the DNA level (mutations in specific genes) may also be detected. Genetic testing is often necessary to identify the exact cause of infertility.
Chromosomal abnormalities are relatively common and are among the leading genetic causes of:
INFERTILITY
These abnormalities can prevent the proper development of sperm and eggs. In infertile men, the frequency of chromosomal abnormalities ranges from 3% in cases of mild infertility to 19% in cases of non-obstructive azoospermia.
RECURRENT SPONTANEOUS ABORTIONS
These genetic defects often prevent embryos from developing normally, leading to miscarriages, usually before 12 weeks of pregnancy.
BIRTH OF DESCENDANTS AFFECTED
In cases where pregnancy is carried to term despite these genetic defects, the offspring often have physical and/or intellectual disabilities.
WHAT TYPES OF CHROMOSOMAL ANOMALIES EXIST?
NUMERICAL ANOMALIES (ANEUPLOIDIES)
Humans typically have 46 chromosomes in each cell. Numerical chromosomal abnormalities involve the loss or gain of one or more chromosomes. Regarding infertility:
– Men with karyotype 47, XXY (Klinefelter syndrome) have the most common aneuploidy among infertile male patients, with an incidence of 0.3%, which is 3-5 times higher than in the general population.
– Women with karyotype 45, X0 (Turner syndrome).
– Chromosomal abnormalities can also occur during the formation of eggs or sperm. When fertilization occurs, the resulting embryo may have an incorrect number of chromosomes, leading to spontaneous abortion or congenital disorders.
STRUCTURAL ANOMALIES
In structural anomalies, the chromosome number is correct, but their structure is altered. These can include:
– Gain or Loss of Genetic Material: Such as duplications, insertions, or deletions. These abnormalities often have phenotypic consequences for the carrier.
– Rearrangements Without Gain or Loss of Material: While these rearrangements usually have no impact on the carrier, they can affect reproduction, leading to issues like the formation of eggs and sperm, increasing the risk of miscarriage or affected offspring.
WHY CHOOSE FIVCLÍNIC+?
DISTINGUISHED EXPERIENCE
We offer you access to a team of reproductive medicine specialists with over 30 years of experience. Our commitment to biomedical research and scientific evidence forms the foundation of our clinical excellence, driving innovation that directly benefits patients.
EXCEPTIONAL PREGNANCY RATES
Our success rates are approximately 65% with patients’ own eggs and 80% with donor eggs. Achieving these outcomes involves conducting a thorough fertility study and personalized diagnosis to tailor treatments to each individual case.
PIONEERS IN INNOVATIVE TREATMENTS
As part of Clínic Barcelona, a leading center in research, development, and innovation, we participate in cutting-edge research studies and publish our results in top scientific journals. Our clear objective is to enhance the effectiveness of reproductive techniques.
STATE-OF-THE-ART FACILITIES AND CUTTING-EDGE LABORATORY
We feature the latest technological advancements, such as ICSI and real-time embryo monitoring, allowing you to follow every step of your treatment. We work with the new reproduction laboratory of Clínic Barcelona, which is newly established and equipped with state-of-the-art technology.
PERSONALIZED AND CLOSE ATTENTION = SATISFIED PATIENTS
Every patient is unique, and our team’s involvement reflects that. We guarantee personalized and compassionate care to support you throughout your journey to motherhood, addressing any needs that arise along the way. The patient surveys we’ve conducted over the years affirm the quality of our service and the professionalism of our team. Your time, comfort, and safety are our top priorities, and we strive to meet your expectations with a high level of satisfaction.
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+34 93 227 57 44
