Investigation

An investigation is recommended if pregnancy has not been achieved after one year of actively trying to conceive. If the woman is older than 35, an investigation may be initiated earlier. Similarly, an investigation should begin sooner than after a year of active desire for pregnancy if there is any known cause, such as absent or irregular menstruation, endometriosis, or any form of malformation. Even a known male factor may necessitate starting the investigation earlier than after a year of active attempts.

During the initial contact, there is a general review of the overall health condition, with a more detailed examination of factors specifically relevant to fertility. The investigation is conducted by a physician specializing in fertility and gynecology. Both individuals in a couple are examined; in cases of treatment for single individuals, only the woman undergoes the examination.

A gynecological examination is conducted, including an ultrasound for the woman, where the uterus and ovaries are evaluated from a fertility perspective. Blood tests are analyzed when indicated, and these are individualized based on the findings of the visit. Commonly taken samples include an analysis of thyroid function (TSH), and a test indicating the ovarian reserve (AMH; anti-Müllerian hormone).

In-depth investigation - involuntary childlessness

A supplementary ultrasound examination is often needed to obtain additional information about the uterus and to determine whether there is passage through the fallopian tubes. This examination is called hysterosalpingosonography (HSSG) and is performed after menstruation. A summary of the entire investigation is provided during this examination.

Hysterosalpingosonography (HSSG) is a type of examination conducted when an extensive assessment of the uterus and fallopian tubes, as well as the passage through the tubes, is needed.

During this procedure, the uterus and fallopian tubes are flushed with a thin catheter under ultrasound guidance to assess the presence of tubal passage. Simultaneously, the gynecologist examines the uterus and ovaries to detect any other abnormalities, such as fibroids.

This examination is typically performed as part of a fertility investigation but can also be conducted for other indications.

To explore possible male factors, a sperm sample is needed. The man receives instructions on how and when to provide a sperm sample for analysis. The results of this sample are obtained either during the initial visit or at a follow-up appointment. The analysis of the sperm sample is carried out by the clinic's embryologists. Sometimes, a more in-depth investigation of male factors may be required.

Abnormal sperm sample
During the laboratory analysis of the man's sperm, abnormalities may sometimes be found. This could mean a low sperm count, poor sperm motility, abnormal sperm morphology, or the absence of sperm.

The cause of these abnormalities may be a known disease in the man or the use of certain medications that negatively affect sperm. However, often the cause of male factor infertility is unknown.

Further investigation may be initiated when indicated. At our fertility clinics, this investigation is conducted as a private-pay service. In some cases, contact with a urologist or general practitioner may also be initiated for continued investigation.

Hormone tests for male factor infertility
The hormone tests typically analyzed in cases of suspected male infertility include LH, FSH, testosterone, and SHBG.

Genetic analyses
In an extended investigation of male infertility, karyotyping may be performed, which involves a chromosomal analysis. Additionally, a specific analysis for microdeletion on the Y chromosome may be of interest, and genetic analysis for carrier status of Cystic Fibrosis may sometimes be indicated.

Analysis of DNA fragmentation in sperm DNA

It is known that men with a higher proportion of sperm with damaged DNA, known as DNA fragmentation, have an increased risk of male infertility. Higher levels of DNA fragmentation can affect the ability of sperm to fertilize eggs and may be linked to reduced fertility or an increased risk of miscarriage. Genetic examinations of sperm can be useful in fertility investigations and assisted reproduction to assess sperm quality and optimize the chances of successful treatment.

Sperm are formed during a developmental process called spermatogenesis. During this process, sperm cells undergo several differentiation and maturation stages. When the sperm is fully developed, it consists of a sperm head and a tail. The sperm head contains the cell's chromosomes that carry DNA. In the analysis of DNA fragmentation levels in a sperm, it is this DNA that is examined.

How is DNA fragmentation in sperm examined?

Thanks to a specific test performed in our laboratory, fragmentation in sperm DNA can be identified. Based on the results, our experts can provide advice and recommendations.

Analysis of chromosomal abnormalities in sperm

Chromosomal abnormalities in sperm increase the risk of sperm with reduced quality. Chromosomal abnormalities can be analyzed with a test called Sperm Aneuploidy Test (SAT), where the chromosomal relationship in sperm that deviates from the normal, through excess or loss of chromosomes or chromosome pairs, is studied.

Chromosomal abnormalities can lead to reduced fertility, manifested in failed IVF treatments, recurrent miscarriages in women, and the birth of children with chromosomal abnormalities. Sperm carrying chromosomal abnormalities can also be detected in abnormal sperm samples.

How is aneuploidy in sperm examined?

The presence of aneuploids can be easily analyzed through a very specific genetic test. A sperm sample is provided to the laboratory, and the genetic analysis is conducted.

Operative retrieval of sperm from the testicles

In the absence of sperm in the ejaculate, attempts to retrieve sperm directly from the testicle/epididymis can sometimes be a good alternative, known as TESA/PESA. During this type of procedure, a testicular biopsy is performed or an aspirate is taken from the epididymis. The laboratory then attempts to isolate sperm directly from the biopsy or aspirate.

Available in Uppsala
The investigation is only conducted at our clinic in Uppsala, Sweden.

A complete investigation can be carried out with us or with another gynecologist if preferred. We offer short waiting times, and an investigation can be completed after one or a few visits. Treatment can commence shortly thereafter.

Once the necessary examinations are complete and all test results are available, including the sperm analysis, a summary can be prepared, and a treatment proposal can be presented.

Genetic Carrier Testing is offered when a comprehensive genetic assessment and testing are desired, either before fertility treatment or in the case of repeated miscarriages. Genetic Carrier Testing can also be used for individuals who want to avoid passing on one or more genetic diseases to their future children. If abnormalities are found during the analysis of a genetic carrier test, guidance and suggestions for optimized or specific fertility treatment are provided.

What is a gene, and which genetic mutations are analyzed?
Each individual carries two sets of genetic traits, one from each parent. These traits consist of genes that encode vital proteins. Normally, having one functioning copy of the inherited gene is sufficient. However, if a child inherits double defective sets of the same gene, it loses the ability to produce a functional protein, leading to a genetic disease.

With genetic carrier testing, individual or a large number of genetic abnormalities can be analyzed. The choice of analysis is made in consultation with the individual or couple. Commonly identified diseases include Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X syndrome, sickle cell anemia, thalassemia, and polycystic kidneys.

How common are genetic diseases?
According to the WHO, the prevalence of autosomal recessive diseases is 10 in 1000 live births. These diseases account for 50% of child mortality in the Western world. 82% of couples having a child with an autosomal recessive disease are unaware that they are carriers of the genetic mutation. The uncertainty about carrier status allows the gene to be transmitted through multiple generations without causing illness. It becomes apparent only when two individuals carrying the gene have a child.

Procedures for the analysis of a genetic carrier test

1. Contact is made with the clinic in Uppsala. Consultations with a doctor are scheduled for information and guidance.
2. A blood sample is taken.
3. The genetic analysis is performed.
4. Results of the analysis are obtained, and a review and interpretation of the written report are conducted.

What does a negative result mean?
A negative test result indicates no carrier status for the analyzed genetic changes. However, no test is entirely perfect, and a small risk of carrier status may still exist.

What does a positive result mean?
A positive test result indicates carrier status of a gene leading to a genetic disease. This implies a risk of the future child being born with the disease. If carrier status is identified, it is advisable to have the partner also tested, if not done initially. If both individuals in a couple planning to have a child together are carriers of the gene for the disease, the risk is 1 in 4, i.e., 25%, that the child will be born with the disease.

What happens if both are carriers?
If a genetic carrier test indicates a risk of transmitting a genetic disease to the future child, i.e., when both partners are carriers, various strategies can be used to avoid disease transmission. Consultations with a doctor and clinical geneticist are recommended before decisions are made.

1. Fertility treatment through IVF with preimplantation genetic diagnosis (PGD or PGT-M) performed on the embryo before transfer, meaning embryos carrying the gene are not returned to the woman.
2. Fertility treatment with donated eggs or sperm. The donor has been assessed in the same way and is not a carrier.
3. Adoption may also be an alternative.

Genetic carrier testing should be seen as a complement to the standard basic investigation within healthcare. All genetic testing is entirely voluntary and performed on a private basis at the individual's request.

Available in Uppsala
The investigation is only conducted at our clinic in Uppsala.

At our clinic in Uppsala, we perform the ERA test/Genetic Analysis (Endometrial Receptivity Array), which is a genetic analysis that determines the exact timing when an embryo is most likely to implant into the endometrium in the uterus.

What is the ERA test?
The ERA test (Endometrial Receptivity Array) is a genetic analysis that determines the exact timing when an embryo is most likely to implant into the endometrium in the uterus. The timing is unique to each individual woman. With the genetic analysis, ERA, more than 200 genes that determine the optimal timing for embryo implantation are analyzed.

Why should I consider undergoing an ERA test?
The ERA test may be considered if multiple transfers of high-quality embryos in previous IVF treatments have failed or if the woman has experienced recurrent miscarriages. ERA can also be suitable for egg donation treatments or other instances where one wishes to optimize treatment with embryo transfer. In these indications, ERA has proven to be beneficial as the analysis specifies the exact day and time when the endometrium in the uterus is most optimal and receptive to an embryo.

How is the ERA test performed?
Before the ERA test is taken, stimulation is carried out similar to that before transferring a frozen embryo. Instead of transferring the embryo at the usual time, a biopsy of the uterine lining is taken at the intended implantation time. The test is conducted using a thin catheter inserted into the uterus through the cervix. A very small piece of the uterine lining is collected and sent to the laboratory for analysis. Results are obtained after three weeks.

Available in Uppsala
The investigation is only conducted at our clinic in Uppsala.

EMBRACE (EMBRyo Analysis of Culture Environment) is used to achieve successful outcomes with fewer embryo transfers. EMBRACE is a non-invasive analysis method that does not affect the embryo. IVF with EMBRACE may be motivated by the woman's age or when multiple embryo transfers have been unsuccessful.

The approach is unique to achieve successful results. At the clinic in Uppsala, we perform EMBRACE (Embryo Analysis of Culture Environment). This approach is unique and is used to achieve successful results in embryo transfer by prioritizing embryos based on their likelihood of attaching to the uterine lining and leading to pregnancy. This analysis is effectively complemented by an ERA test to further optimize the outcome of IVF treatment.

What is Embrace?
When the eggs have been fertilized and are to be cultured into embryos, they are placed in a designated dish with a culture medium. During cell division, the embryo releases DNA into the medium. After the embryo's cultivation is completed, it is frozen according to routine. The medium is then handled by our experienced embryologists and sent to the genetic laboratory for analysis.

Your embryos never leave our clinic but are vitrified while awaiting transfer. Based on the genetic analysis, priority is given to embryos with the best chance of attaching to the uterus and leading to a successful pregnancy. To perform the analysis, two or more embryos that have been cultured for six days are required.

The DNA produced by the embryo is analyzed using next-generation sequencing (NGS), a highly sensitive analysis method. Based on the genetic analysis and the laboratory assessments made by the embryologists at the IVF laboratory, a recommendation is provided regarding the order in which these embryos should be prioritized for transfer.

When should the Embrace analysis be performed?
IVF with EMBRACE may be motivated by the woman's age or when multiple embryo transfers have been unsuccessful.

Available in Uppsala
This investigation is conducted at our clinic in Uppsala.