CONGENO-study: consequences of genotyping in reproductive medicine.

Background

In Reproductive Medicine, genotyping is recommended in couples with recurrent miscarriage and for severe male subfertility, especially prior to intracytoplasmatic sperm injection (ICSI) treatment (NVOG-guidelines), since there is an increased risk of parental carrier status of a balanced structural chromosome abnormality.

Recurrent miscarriage is defined as two or more (not necessarily consecutive) miscarriages. Severe male subfertility is defined as less than one million motile spermatozoa per ejaculation.

In case a chromosome or DNA-abnormality is found, couples normally are referred to a Clinical Geneticist for subsequent genetic counseling, aiming to provide clear information about possible (future) pregnancy outcome, and to help couples to process the test information in such a way that they can make informed decisions regarding possible future pregnancies. Once a structural chromosome abnormality has been detected, prenatal diagnosis in subsequent pregnancies and termination of pregnancy in the case of an unbalanced fetal karyotype is available.

Presently, in these two groups of patients, genetic testing is recommended, whereas little is known about the consequences related to genotype outcome and the impact of the genetic test outcome for these couples. The identification of a genetic risk factor puts a new responsibility on individual patients and couples.

Objective

The aim of the CONGENO-study is to determine the impact of genotyping in  couples with recurrent miscarriage and severe male subfertility. The impact of genetic testing and succeeding decisions resulting from the test outcome will be elucidated.

Study-design

The CONGENO-study is a prospective, multi-centre, index-control study.

All couples included in the study will receive three questionnaires:

1.                   Just before receiving the test result   

2.                   Three months after receiving the test result   

3.                   Twelve months after receiving the test result   

Both partners of the couples are asked to fill in a questionnaire containing the same questions. Questionnaires are mailed to the couples and can be filled in at home and returned. 

Population

Selection of eligible couples will be in the clinical genetics laboratory and subsequently the referring gynaecologist will be contacted to ask permission to contact the couple. Selected couples will than be contacted and asked to participate.

Outcome measures

Validated questionnaires are used that measure anxiety, depression and post-traumatic stress disorder. Reproductive outcome is also recorded.

Participating hospitals

Clinical genetics departments of Academic Medical Centre Amsterdam, VU Medical Centre,

Erasmus Medical Centre, University Medical Centre Utrecht, University Medical Centre Groningen, University Medical Centre Leiden, University Medical Centre Nijmegen.

Contact information

Email: f.vansenne@amc.uva.nl

GSM: 06- 304 353 16