Karyotype analysis of fetus in pregnant women with different indications for amniocentesis.
Análisis del cariotipo fetal de embarazadas con diferentes indicaciones de amniocentesis.
Keywords:
prenatal diagnosis, amniocentesis, karyotype analysis, chromosomal abnormalities
Abstract
To analyze the karyotype distribution in 1285 pregnant women and evaluate the association between karyotype and diagnostic indications of fetal chromosomal abnormalities, 1285 pregnant women with prenatal diagnostic indications and successful amniocentesis admitted to our hospital from July 2019 to June 2022 were selected as study subjects for fetal karyotype analysis. The distribution of prenatal diagnostic indications and abnormal karyotypes were recorded, and the association between abnormal karyotypes and different diagnostic indications was analyzed. Ninety-six abnormal chromosomal karyotypes in amniotic fluid cells were detected in the samples, with an abnormality rate of 7.47%. Chromosome numerical abnormalities accounted for 70.83% (68/96), and the detection rate was 5.29% (68/1285), the most common category of abnormal kariotypes, trisomy 21, was the most common among them, accounting for 44.79% (43/96). Advanced maternal age and high risk of serologic screening were the main indications for prenatal diagnosis. The highest detection rates were for abnormal non-invasive prenatal DNA testing and one parent carrying chromosome abnormality, 27.63% and 42.86%, respectively. Karyotype analysis of pregnant women with indications for amniocentesis is effective in screening for fetal chromosomal abnormalities and reducing congenital anomalies.
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References
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Liu X, Liu S, Wang H, Hu T. Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis. Front Genet 2022; 13: 938183. https://doi. org/10.3389/fgene.2022.938183.
Carlson LM, Vora NL. Prenatal Diagnosis: Screening and Diagnostic Tools. Obstet Gynecol Clin North Am 2017; 44(2): 245-256. https://doi.org/10.1016/j.ogc.2017.02.004.
Xie D, Yang W, Fang J, Li H, Xiong L, Kong F, Wang A, Liu Z, Wang H. Chromosomal abnormality: prevalence, prenatal diagnosis and associated anomalies based on a provincial-wide birth defects monitoring system. J Obstet Gynaecol Res 2021; 47(3): 865-872. https://doi.org/10.1111/jog.14569.
Carbone L, Cariati F, Sarno L, Conforti A, Bagnulo F, Strina I, Pastore L, Maruotti GM, Alviggi C. Non-invasive prenatal testing: current perspectives and future challenges. Genes 2020; 12(1): 15. https://doi.org/10.3390/genes12010015.
Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril 2018; 109(2): 201-212. https://doi.org/10.1016/j.fertnstert.2018.01.005.
Wang J, Wang ZW, Zhou Q, Zhang B, Yin T, Yu B, Wang LL. Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women. Ann Transl Med 2019; 7(14): 319. https://doi.org/10.21037/atm.2019.06.70.
Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. New Eng J Med 2009; 360(24): 2556-2562. https://doi.org/10.1056/nejmcp0900134.
Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 2017; 9(9): Cd003252. https://doi.org/10.1002/14651858.cd003252.pub2.
Fang Y, Wang G, Gu L, Wang J, Suo F, Gu M, Gou L. Application of karyotype analysis combined with BACs-on-Beads for pre-natal diagnosis. Exp Ther Med 2018; 16(4): 2895-2900. https://doi.org/10.3892/ etm.2018.6574.
Dai R, Yu Y, Xi Q, Hu X, Zhu H, Liu R, Wang R. Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China. Mol Cytogenet 2019; 12: 45. https://doi. org/10.1186/s13039-019-0457-x.
Jindal A, Sharma M, Karena Z, Chaudhary C. Amniocentesis. StatPearls. Treasure Island (FL). StatPearls Publishing; 2023.
Stevens-Kroef M, Simons A, Rack K, Hastings RJ. Cytogenetic Nomenclature and Reporting. Methods Mol Biol 2017; 1541:303-309. https://doi.org/10.1007/978-1-4939-6703-2_24.
Grgić G, Cerovac A, Hadžimehmedović A, Bogdanović G, Latifagić A. Genetic amniocentesis: Indications, outcome and complications retrospective cohort study during 13 years. Clin Exp Obstet Gynecol(CEOG) 2021; 48(6): 1318-1323. https://doi.org/10.31083/j.ceog4806209.
Golshahi F, khaleghinezhad k, Sahebdel B, Saedi N, Salari Z. The Indications of amniocentesis for the diagnosis of aneuploidy among pregnant women. J Midwifery Reprod Health 2024; 12(2):
4264-4269. https://doi.org/10.22038/jmrh.2022.66590.1943.
Younesi S, Taheri Amin MM, Hantoushzadeh S, Saadati P, Jamali S, Modarressi MH, Savad S, Delshad S, Amidi S, Geranorimi T, Navidpour F, Ghafouri-Fard S. Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women. Sci Rep 2021; 11(1): 19402. https://doi.org/10.1038/s41598-021-98928-3.
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.
Sun Y, Zhang P, Zhang N, Rong L, Yu X, Huang X, Li Y. Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities. Mol Cytogenet 2020; 13: 2. https://doi.org/10.1186%2Fs13039-020-0469-6.
Liu Y, Sun XC, Lv GJ, Liu JH, Sun C, Mu K. Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication. J Comp Eff Res 2023; 12(6): e220168. https://doi. org/10.57264%2Fcer-2022-0168.
Ocak Z, Özlü T, Yazıcıoğlu HF, Özyurt O, Aygün M. Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases. J Obs-444 Ma et al. tet Gynaecol Res 2014; 40(1): 139-146.
https://doi.org/10.1111/jog.12144.
Coppedè F. Risk factors for Down syndrome. Arch Toxicol 2016; 90(12): 2917-2929. https://doi.org/10.1007/s00204-016-1843-3.
Pylypjuk CL, Monarrez-Espino J. False-positive maternal serum Screens in the second srimester as sarkers of slacentally sediated somplications sater in pregnancy: a systematic review and meta-analysis. Dis Markers 2021; 2021(1): 5566234. https://doi.org/10.1155/2021/5566234.
Stavljenić-Rukavina A1. Prenatal diagnosis of chromosomal disorders Molecular aspects. EJIFCC 2008; 19(1): 2-6.
Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol 2015; 45(5): 530-538. https://doi.org/10.1002/uog.14792.
Van den Hof MC, Wilson RD. Fetal soft markers in obstetric ultrasound. Int J Gynecol Obstet 2006; 95(1): 73-74. https://doi.org/10.1016/j.ijgo.2006.02.002.
Jayashankar SS, Nasaruddin ML, Hassan MF, Dasrilsyah RA, Shafiee MN, Ismail NA. Non-invasive prenatal testing (NIPT): reliability, challenges, and future directions. Diagnostics 2023; 13(15): 2570. https://doi.org/10.3390/diagnostics13152570.
Liu X, Liu S, Wang H, Hu T. Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis. Front Genet 2022; 13: 938183. https://doi. org/10.3389/fgene.2022.938183.
Published
2024-12-02
How to Cite
Ma, C., Sun, L., & Li, L. (2024). Karyotype analysis of fetus in pregnant women with different indications for amniocentesis.: Análisis del cariotipo fetal de embarazadas con diferentes indicaciones de amniocentesis. Investigación Clínica, 65(4), 436-444. https://doi.org/10.54817/IC.v65n4a04
Section
Original Works
