Reproductive Genetics

We can support couples who are planning to become pregnant, are currently pregnant, or are experiencing fertility issues. Following testing, we help patients understand their results with recommendations for next steps. Contact us for an initial consultation to learn more about our service.

Reasons for genetic consultation in the field of Reproductive Genetics.

In couples with problems getting pregnant or in couples with habitual spontaneous miscarriages, a genetic cause should be considered. In these cases, fertility treatment and in vitro fertilisation (IVF, ICSI) are often performed. A genetic cause may also be responsible in cases of couples with pregnancy complications and foetal anomalies. We offer genetic consultation, testing, and diagnostics for couples with fertility problems and habitual spontaneous miscarriages, as well as foetal anomalies in prenatal diagnostics.

Genetic consultation and diagnostics in reproductive genetics usually include all of the above issues for both partners.

Please note that genetic consultation and diagnostics in reproductive genetics is usually a couple’s appointment, which means that both partners are involved.

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What is Reproductive Genetics?

Reproductive Genetics encompasses prenatal diagnostic approaches as well as preconception genetic consultation and counselling, Assisted Reproductive Technologies (ART) and preimplantation genetic diagnosis (PGD). Information about prenatal diagnosis should also be considered in almost any genetic consultation situation, as many clients are interested in learning about the chance of passing on a particular condition to their children. Therefore, it is important to be aware of the reproductive options currently available for genetic conditions.

In Reproductive Genetics, genetic tests are carried out for several main purposes: the identification of infertility causes or causes of multiple miscarriages, the identification of genetic diseases transmissible to offspring, and uncovering genetic causes of abnormalities in foetal development. Another purpose is the optimisation of assisted reproductive technology (ART).

In Reproductive Genetics, in general, we emphasise the fertility journey of couples and the medical histories of both partners. For this reason, the evaluation of both members of the couple is mandatory.

A medical evaluation is indicated for example, when the couple fails to achieve pregnancy after 12 months of regular, unprotected sexual intercourse or if there have been three or more miscarriages. It is important that a diagnosis in reproductive medicine be determined by the combination of an accurate medical history and instrument- and laboratory-based evaluations, including targeted genetic tests. Confirmation of the clinical diagnosis through genetic evaluation – consultation, and testing – can lead to more specific and targeted medical management.

In addition, genetic tests are also indicated for the identification of genetic diseases that are transmissible to the offspring: preconception screening allows couples who are planning to become pregnant to know their reproductive risk a priori. Genetic tests (carrier screening, preimplantation, and prenatal diagnosis) have the crucial impact of monitoring the possible transmission of these genetic alterations to the offspring.

To date, the diagnostic options for couples at risk of transmitting a specific inherited disorder to their offspring are preimplantation genetic testing (PGT) and prenatal diagnosis (PND). These two diagnostic procedures share the same purpose but differ in diagnostic time, type of sampling, and laboratory procedures.

Is Infertility Genetic?

Approximately 10 to 15 percent of couples experience infertility, with more than half of these cases being due to an underlying genetic issue. In these instances, the genetic cause could have been inherited. However, infertility is a complex condition, and most cases are not due to a known inherited cause. Both female and male factors account for approximately 1/3 of all cases of infertility. The remaining 1/3 of cases of infertility are due to either unknown causes or a combination of both male and female factors.

Preconception or prenatal genetic consultation with Dr. Schell-Apacik can help you understand the potential causes of your infertility, and can help guide you through your reproductive journey. Dr. Schell-Apacik will interpret your personal reproductive and family history, and make recommendations.

Genetic Disorders That Cause Female Infertility

Female infertility can have multiple causes, including hormone changes, issues with ovulation, endometriosis, or structural changes in the reproductive system. Additional components may influence female infertility, including age, exposures, weight, or a history of sexually transmitted diseases. Lastly, genetics are known to contribute to approximately 10% of female infertility.

Certain genetic factors that impact female infertility include an inherited chromosome change or a single-gene variant passed from parent to child. In addition, if there is a family history of certain medical conditions, such as early menopause or endometriosis, an individual may be at increased risk of having the same health issues as well.
Specific genetic conditions and chromosome issues that may cause female infertility include:

• Turner Syndrome: Individuals with Turner syndrome are either partially or completely missing 1 copy of their X chromosome, and therefore are susceptible to ovarian insufficiency.
• Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): — Women that are carriers of Fragile X syndrome (FX), which is a genetic change on one of the X chromosomes, are at increased risk of having primary ovarian insufficiency (POI), which occurs when the ovaries stop functioning normally before the age of 40. Not only does this impact fertility, but carriers of Fragile X syndrome are also at increased risk of having children with intellectual disabilities associated with inheriting Fragile X.
• Congenital Adrenal Hyperplasia (CAH): CAH is a genetic condition that affects both women and men. For women with CAH, changes in the adrenal gland can cause hormone imbalances, which can lead to changes in menstrual cycles affecting fertility.
• Chromosome rearrangements: Individuals that carry chromosome rearrangements have an increased chance to pass down too much or too little chromosomal material, which could impact the ability to conceive a pregnancy, increase the risk of pregnancy loss, or result in offspring with birth defects or intellectual differences.

Genetic Disorders That Cause Male Infertility

Male infertility can be caused by low sperm production, abnormal sperm function, or blockages that prevent the delivery of sperm. Other factors, such as chronic illnesses, injuries, lifestyle choices, and genetics, may also contribute to male infertility. Genetics are known to contribute to approximately 15% of male infertility.

Specific genetic conditions and chromosome issues that may cause male infertility include:

• Klinefelter syndrome (KS): Individuals with Klinefelter syndrome have an extra X chromosome (XXY). This can lead to lower production of testosterone, resulting in little or no sperm production.
• Kallman Syndrome: Individuals with Kallman syndrome are unable to produce certain hormones that can impact sexual development and lead to infertility.
• Cystic fibrosis (CF): Cystic fibrosis is an inherited condition that affects the lungs and digestive tract; however, a few specific genetic changes in the gene for CF can affect male fertility by impacting the development of the vas deferens, which would not allow for sperm to be transported.
• Y chromosome microdeletions: Individuals that are missing areas of their Y chromosomes, which contain genes that are involved in the growth and development of sperm, may have little or no sperm production.
• Chromosome rearrangements: Individuals that carry chromosome rearrangements have an increased chance to pass down too much or too little chromosomal material, which could impact the ability to conceive a pregnancy, increase the risk of pregnancy loss, or result in offspring with birth defects or intellectual differences.