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Karyotype Analysis of Amniotic Fluid Cells and Report of Chromosomal Abnormalities in 15,401 Cases of Iranian Women Publisher Pubmed



Younesi S1 ; Taheri Amin MM2 ; Hantoushzadeh S3 ; Saadati P4 ; Jamali S5 ; Modarressi MH6 ; Savad S2 ; Delshad S2 ; Amidi S7 ; Geranorimi T8 ; Navidpour F5 ; Ghafourifard S9
Authors
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Authors Affiliations
  1. 1. Prenatal Screening Department, Nilou Laboratory, Tehran, Iran
  2. 2. Genome-Nilou Laboratory, Tehran, Iran
  3. 3. Maternal Fetal and Neonatal Research Center, Valiasr Hospital, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Clinical and Anatomical Pathologists, Prenatal Screening Department, Nilou Laboratory, Tehran, Iran
  5. 5. Post Analytical Quality Control Department, Nilou Laboratory, Tehran, Iran
  6. 6. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Medical Genetics, Genome-Nilou, Tehran, Iran
  8. 8. Obstetrics and Gynecology Department, Tehran University of Medical Sciences, Imam Khomeini Hospital, Tehran, Iran
  9. 9. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Scientific Reports Published:2021


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. © 2021, The Author(s).
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