Original Article

Cytogenetic Analysis of Amniotic Fluid Cells in 4206 Cases of High-Risk Pregnant Women


Background: We aimed to assess the frequency and structure of chromosomal abnormalities as well as the distribution of the indications of prenatal diagnosis in 4206 cases of high-risk pregnant women.

Methods: A retrospective analysis of cytogenetic studies of 4206 pregnant women with indications of amniocentesis, referred to Linyi Women and Children’s Hospital, Shandong Province, Linyi, China in 2016-2017, was performed. Among those, 4191 amniotic fluid specimens were successfully extracted and cultured, and received karyotype diagnosis.

Results: A total of 358 abnormal karyotypes were detected and the abnormal rate was 8.54%. Among them, autosomal aneuploidy was the most common pattern occupied 64.53% and the detection rate was 5.51%, of which 173 (48.32%) cases were 21-trisomy, which was the main type of abnormal karyotypes, followed by 18-trisomy (14.25%). There were 38 cases with sex chromosome aneuploidy, including 47, XXY, 47, XXX, 47, XYY, 69, XXX and 45, X0, accounting for 10.61% of the total chromosome abnormalities and the detection rate was 0.91%. Chromosome structural disorders occupied 10.61% (38/358) of the chromosome abnormalities, including Robertson translocation (16 cases), balance translocation (14 cases), inversion (3 cases), deletion (3 cases), and so on. Chromosome polymorphism was 10.61% too. Other uncommon abnormal karyotypes included mosaicism (11/358), marker chromosome (1.3%). Advanced age and serological screening for high risk were the major prenatal diagnostic indications for pregnant women with chromosomal abnormalities.

Conclusion: The karyotype analysis of amniotic fluid cells in pregnant women with different amniocentisis indications can effectively prevent the birth of fetuses with chromosomal diseases and reduce the risk of fetal malformation.


1. Templado C, Bosch M, Benet J (2005). Fre-quency and distribution of chromosome abnormalities in human spermatozoa. Cy-togenet Genome Res, 111: 199-205.
2. Hook EB, Schreinemachers DM, Willey AM, Cross PK (1984). Inherited structur-al cytogenetic abnormalities detected inci-dentally in fetuses diagnosed prenatally: frequency, parental-age associations, sex-ratio trends, and comparisons with rates of mutants. Am J Hum Genet, 36: 422-443
3. Reddy UM, Goldenberg R, Silver R et al (2009). Stillbirth classification--developing an international consensus for research: executive summary of a National Institute of Child Health and Human Develop-ment workshop. Obstet Gynecol, 114: 901-914.
4. Vaknin Z, Reish O, Ben-Ami I, Heyman E, Herman A, Maymon R (2008). Prenatal diagnosis of sex chromosome abnormal-ities: the 8-year experience of a single medical center. Fetal Diagn Ther, 23: 76-81.
5. Hulten MA, Dhanjal S, Pertl B (2003). Rapid and simple prenatal diagnosis of com-mon chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction, 126: 279-297.
6. Schluth-Bolard C, Delobel B, Sanlaville D et al (2009). Cryptic genomic imbalances in de novo and inherited apparently bal-anced chromosomal rearrangements: ar-ray CGH study of 47 unrelated cases. Eur J Med Genet, 52: 291-296.
7. Zhang YP, Wu JP, Li XT, Lei CX, Xu JZ, Yin M (2011). [Karyotype analysis of am-niotic fluid cells and comparison of chromosomal abnormality rate during second trimester]. Zhonghua Fu Chan Ke Za Zhi, 46: 644-648 [Article in Chinese].
8. Ogilvie CM, Lashwood A, Chitty L, Waters JJ, Scriven PN, Flinter F (2005). The fu-ture of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's syn-drome testing. BJOG, 112: 1369-1375.
9. Zhang L, Zhang XH, Liang MY and Ren MH (2010). Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women. Chin Med J (Engl), 123: 423-430.
10. Zhong SL, Fang Q, Chen BJ, Han ZY, Luo YM, Chen JS, Xie YJ (2011). [Clinical fea-tures of abnormal chromosome karyo-types in twin pregnancies complicated with structural abnormalities]. Zhonghua Fu Chan Ke Za Zhi, 46: 649-654 [Article in Chinese].
IssueVol 48 No 1 (2019) QRcode
SectionOriginal Article(s)
DOI https://doi.org/10.18502/ijph.v48i1.791
Chromosomal karyotype Chromosomal abnormalities Amniocentisis Prenatal diagnosis

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
LI H, LI Y, ZHAO R, ZHANG Y. Cytogenetic Analysis of Amniotic Fluid Cells in 4206 Cases of High-Risk Pregnant Women. Iran J Public Health. 2019;48(1):126-131.