Genetics of infertility: a paradigm shift for medically assisted reproduction.
Hum Reprod
; 38(12): 2289-2295, 2023 Dec 04.
Article
de En
| MEDLINE
| ID: mdl-37801292
ABSTRACT
The field of reproductive genetics has undergone significant advancements with the completion of the Human Genome Project and the development of high-throughput sequencing techniques. This has led to the identification of numerous genes involved in both male and female infertility, revolutionizing the diagnosis and management of infertility patients. Genetic investigations, including karyotyping, specific genetic tests, and high-throughput sequencing, have become essential in determining the genetic causes of infertility. Moreover, the integration of genetics into reproductive medicine has expanded the scope of care to include not only affected individuals or couples but also their family members. Genetic consultations and counselling play a crucial role in identifying potentially affected relatives and offering tailored therapy and the possibility of fertility preservation. Despite the current limited therapeutic options, an increasing understanding of genotype-phenotype correlations in infertility genes holds promise for improved treatment outcomes. The availability of genetic diagnostic tools has reduced the number of idiopathic infertility cases by providing accurate aetiological diagnoses. The transition from research to clinical practice in reproductive genetics requires the establishment of genetic consultations and data warehousing systems to provide up-to-date information on gene-disease relationships. Overall, the integration of genetics into reproductive medicine has brought about a paradigm shift, emphasizing the familial dimension of infertility and offering new possibilities for personalized care and family planning.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Infertilité
/
Infertilité féminine
/
Infertilité masculine
Limites:
Female
/
Humans
/
Male
/
Pregnancy
Langue:
En
Journal:
Hum Reprod
Sujet du journal:
MEDICINA REPRODUTIVA
Année:
2023
Type de document:
Article
Pays d'affiliation:
Belgique