Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women

Abstract The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were su...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Sarang Younesi, Mohammad Mahdi Taheri Amin, Sedigheh Hantoushzadeh, Pourandokht Saadati, Soudabeh Jamali, Mohammad-Hossein Modarressi, Shahram Savad, Saeed Delshad, Saloomeh Amidi, Taraneh Geranorimi, Fariba Navidpour, Soudeh Ghafouri-Fard
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/b0194791c3374616ba0d559fefdc81a1
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:b0194791c3374616ba0d559fefdc81a1
record_format	dspace
spelling	oai:doaj.org-article:b0194791c3374616ba0d559fefdc81a12021-12-02T18:51:07ZKaryotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women10.1038/s41598-021-98928-32045-2322https://doaj.org/article/b0194791c3374616ba0d559fefdc81a12021-09-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-98928-3https://doaj.org/toc/2045-2322Abstract The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities. Results indicated the presence of normal karyotype in 90.2% (13,497/14,968) of fetuses. Totally, 46.4% (6945/14,968) of fetuses were 46,XX and 43.8% (6552/14,968) had 46,XY chromosome pattern. A total of 1077 abnormal karyotypes were found among 14,968 fetuses, thus the rate of abnormal fetuses was calculated to be 7.2% (1072/14,968). Meanwhile, a total of 394 cases (2.8%) had a normal polymorphism in their karyotype. In other words, abnormal karyotypes were detected in one of 13.9 cases of patients underwent amniocentesis. Down syndrome, Edward’s syndrome, abnormal mosaicisms and Patau’s syndrome were detected in 4.4% (659/14,968), 0.57% (85/14,968), 0.49% (74/14,968) and 0.24% (36/14,968) of cases, respectively. Sex chromosomal abnormalities including Klinefelter syndrome, Turner syndrome and 47,XXX karyotype were detected in 64 cases (0.43%). In this article, the rates of chromosomal abnormalities are compared between different groups of patients based on the advanced maternal age, abnormal NT values, very low PAPP-A and free β-hCG MoMs results, and positive FTS results. The current investigation provides insight into the most appropriate indications for amniocentesis in Iran.Sarang YounesiMohammad Mahdi Taheri AminSedigheh HantoushzadehPourandokht SaadatiSoudabeh JamaliMohammad-Hossein ModarressiShahram SavadSaeed DelshadSaloomeh AmidiTaraneh GeranorimiFariba NavidpourSoudeh Ghafouri-FardNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sarang Younesi Mohammad Mahdi Taheri Amin Sedigheh Hantoushzadeh Pourandokht Saadati Soudabeh Jamali Mohammad-Hossein Modarressi Shahram Savad Saeed Delshad Saloomeh Amidi Taraneh Geranorimi Fariba Navidpour Soudeh Ghafouri-Fard Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
description	Abstract The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities. Results indicated the presence of normal karyotype in 90.2% (13,497/14,968) of fetuses. Totally, 46.4% (6945/14,968) of fetuses were 46,XX and 43.8% (6552/14,968) had 46,XY chromosome pattern. A total of 1077 abnormal karyotypes were found among 14,968 fetuses, thus the rate of abnormal fetuses was calculated to be 7.2% (1072/14,968). Meanwhile, a total of 394 cases (2.8%) had a normal polymorphism in their karyotype. In other words, abnormal karyotypes were detected in one of 13.9 cases of patients underwent amniocentesis. Down syndrome, Edward’s syndrome, abnormal mosaicisms and Patau’s syndrome were detected in 4.4% (659/14,968), 0.57% (85/14,968), 0.49% (74/14,968) and 0.24% (36/14,968) of cases, respectively. Sex chromosomal abnormalities including Klinefelter syndrome, Turner syndrome and 47,XXX karyotype were detected in 64 cases (0.43%). In this article, the rates of chromosomal abnormalities are compared between different groups of patients based on the advanced maternal age, abnormal NT values, very low PAPP-A and free β-hCG MoMs results, and positive FTS results. The current investigation provides insight into the most appropriate indications for amniocentesis in Iran.
format	article
author	Sarang Younesi Mohammad Mahdi Taheri Amin Sedigheh Hantoushzadeh Pourandokht Saadati Soudabeh Jamali Mohammad-Hossein Modarressi Shahram Savad Saeed Delshad Saloomeh Amidi Taraneh Geranorimi Fariba Navidpour Soudeh Ghafouri-Fard
author_facet	Sarang Younesi Mohammad Mahdi Taheri Amin Sedigheh Hantoushzadeh Pourandokht Saadati Soudabeh Jamali Mohammad-Hossein Modarressi Shahram Savad Saeed Delshad Saloomeh Amidi Taraneh Geranorimi Fariba Navidpour Soudeh Ghafouri-Fard
author_sort	Sarang Younesi
title	Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
title_short	Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
title_full	Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
title_fullStr	Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
title_full_unstemmed	Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
title_sort	karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of iranian women
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/b0194791c3374616ba0d559fefdc81a1
work_keys_str_mv	AT sarangyounesi karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT mohammadmahditaheriamin karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT sedighehhantoushzadeh karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT pourandokhtsaadati karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT soudabehjamali karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT mohammadhosseinmodarressi karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT shahramsavad karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT saeeddelshad karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT saloomehamidi karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT taranehgeranorimi karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT faribanavidpour karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen AT soudehghafourifard karyotypeanalysisofamnioticfluidcellsandreportofchromosomalabnormalitiesin15401casesofiranianwomen
_version_	1718377466065584128

Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women

Ejemplares similares