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Current opportunities and new horizons into the genetic study of infertility

Introduction: An 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....

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Autores principales: Nadă, Elena-Silvia, Albu, Dinu-Florin, Pătraşcu, Anca, Albu, Ştefan-Dimitrie, Gogănău, Alexandru Marian, Albu, Cristina-Crenguţa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8597361/
https://www.ncbi.nlm.nih.gov/pubmed/34609421
http://dx.doi.org/10.47162/RJME.62.1.18
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author Nadă, Elena-Silvia
Albu, Dinu-Florin
Pătraşcu, Anca
Albu, Ştefan-Dimitrie
Gogănău, Alexandru Marian
Albu, Cristina-Crenguţa
author_facet Nadă, Elena-Silvia
Albu, Dinu-Florin
Pătraşcu, Anca
Albu, Ştefan-Dimitrie
Gogănău, Alexandru Marian
Albu, Cristina-Crenguţa
author_sort Nadă, Elena-Silvia
collection PubMed
description Introduction: An 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 Methods: The 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. Results: Chromosomal 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. Conclusions: Although 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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spelling pubmed-85973612021-12-01 Current opportunities and new horizons into the genetic study of infertility Nadă, Elena-Silvia Albu, Dinu-Florin Pătraşcu, Anca Albu, Ştefan-Dimitrie Gogănău, Alexandru Marian Albu, Cristina-Crenguţa Rom J Morphol Embryol Original Paper Introduction: An 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 Methods: The 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. Results: Chromosomal 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. Conclusions: Although 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. Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2021 2021-08-11 /pmc/articles/PMC8597361/ /pubmed/34609421 http://dx.doi.org/10.47162/RJME.62.1.18 Text en Copyright © 2020, Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open-access article distributed under the terms of a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Public License, which permits unrestricted use, adaptation, distribution and reproduction in any medium, non-commercially, provided the new creations are licensed under identical terms as the original work and the original work is properly cited.
spellingShingle Original Paper
Nadă, Elena-Silvia
Albu, Dinu-Florin
Pătraşcu, Anca
Albu, Ştefan-Dimitrie
Gogănău, Alexandru Marian
Albu, Cristina-Crenguţa
Current opportunities and new horizons into the genetic study of infertility
title Current opportunities and new horizons into the genetic study of infertility
title_full Current opportunities and new horizons into the genetic study of infertility
title_fullStr Current opportunities and new horizons into the genetic study of infertility
title_full_unstemmed Current opportunities and new horizons into the genetic study of infertility
title_short Current opportunities and new horizons into the genetic study of infertility
title_sort current opportunities and new horizons into the genetic study of infertility
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8597361/
https://www.ncbi.nlm.nih.gov/pubmed/34609421
http://dx.doi.org/10.47162/RJME.62.1.18
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