ArticleRomanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
Current opportunities and new horizons into the genetic study of infertility.
Article in Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Investigating the Impact of Antioxidant Supplementation on Male Infertility: A Scoping Review.Journal of clinical medicine · 2026Review
- Chromosomal Instability and Periodontal Disease in Idiopathic Infertility: Evidence of a Possible Association.Biology · 2025Article
- Chromosomal polymorphisms have no negative effect on reproductive outcomes after IVF/ICSI-ET/FET.Scientific reports · 2022Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
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Abstract
introductionAn estimated 12.5% of couples experiencing fertility problems and almost 12% of reproductive age women have turned to health services at least once due to infertility. First trimester miscarriage is the most common clinical manifestation of infertility associated with a genetic cause. PATIENTS, MATERIALS AND
methodsThe scientific research was conducted at A.S. Medical Center in Bucharest, Romania, between January 2016 and December 2018, on a representative group of 1264 Caucasian patients diagnosed with infertility, from which the study group was selected, consisting of 273 patients who were further genetically investigated.
resultsChromosomal instability, identified in 14% of patients, has been encountered most frequently in women (7%), and least often in fetuses (2%), unlike other chromosomal anomalies, identified in 55% of patients, which were more common in fetuses (27%) and least frequently in men (9%). Recurrent pregnancy loss due to genetic causes was identified in 53% of cases, being determined by chromosomal instability in 16% of cases and by other chromosomal anomalies in 37% of cases. Infertility due to a genetic cause was identified in 83% of cases, being determined by chromosomal instability in 17% of cases and by other chromosomal anomalies encountered in 66% of cases. In genetic risk pregnancies in evolution, fetal chromosomal anomalies were detected in 94% of cases, the most frequent being aneuploidy and polyploidy. Cytogenetic studies carried out on tissue fragments taken from aborted products of conception revealed the presence of a genetic cause in 57% of cases, an abnormal chromosome number being the most common (36%). The analysis of microdeletions of the long arm of the Y chromosome indicated that 5.5% of men with infertility are affected by this condition.
conclusionsAlthough genetic tests are considered complex and expensive laboratory investigations, they are crucial in identifying the etiology of over 40% of infertility cases associated with genetic factors, as well as in the correct and effective management of infertility.
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