Related Experiment Video
Updated: May 30, 2026
09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Knowledge and perceived risks in couples undergoing genetic testing after recurrent miscarriage or for poor semen
F Vansenne1, M Goddijn, B Redeker
1Department of Clinical Epidemiology, Biostatistics and Bioinformatics, University of Amsterdam, The Netherlands. f.vansenne@amc.uva.nl
Reproductive Biomedicine Online
|August 23, 2011
Summary
Many couples undergoing genetic testing for recurrent miscarriage (RM) or poor semen quality lack understanding and overestimate risks. Improved patient counseling is needed to address anxiety and knowledge gaps before genetic testing.
Area of Science:
- Reproductive Medicine
- Medical Genetics
- Psychological Wellbeing
Background:
- Recurrent miscarriage (RM) and poor semen quality often prompt genetic testing.
- Patient understanding and psychological impact of genetic testing are crucial but understudied.
Purpose of the Study:
- To explore knowledge and perceptions of genetic testing in couples with RM or poor semen quality.
- To evaluate psychological wellbeing, including anxiety and depression.
- To identify variables associated with these outcomes.
Main Methods:
- Prospective questionnaire study in seven clinical genetics and gynaecology centers.
- 439 participants (couples with RM or poor semen quality) completed questionnaires before genetic test result disclosure.
- Main outcome measures included knowledge, perceived risk, anxiety, and depression.
Main Results:
- 256 participants (58%) were unaware genetic testing was part of the diagnostic work-up.
- One-third reported not receiving information about genetic tests from their doctor.
- Perceived risk of abnormal results exceeded objective risk, with anxiety highly correlated to perceived risk.
- Women with RM reported higher anxiety levels than other groups.
Conclusions:
- Couples undergoing genetic testing exhibit suboptimal understanding and overestimate risks.
- High levels of anxiety are present in some participants.
- Findings highlight the need for improved pre-test patient counseling.
Related Concept Videos
01:23Infertility in Males
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
01:41Spermatogenesis
Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male reproductive...
01:28Infertility in Females
Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of endometrial...
Endometriosis, a condition characterized by abnormal growth of endometrial...
01:23Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...
01:29Reliability and Validity
Reliability and validity are two important considerations that must be made with any type of data collection. Reliability refers to the ability to consistently produce a given result. In the context of psychological research, this would mean that any instruments or tools used to collect data do so in consistent, reproducible ways.
01:20Disorders of the Male Reproductive System
Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra. Symptoms...
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra. Symptoms...