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Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies

Year 2025, Issue: Early Access
https://doi.org/10.18678/dtfd.1632081

Abstract

Aim: This study aimed to investigate the predictive value of prenatal ultrasonography (USG) findings in detecting chromosomal abnormalities identified through chromosomal microarray analysis (CMA) in high-risk pregnancies.
Material and Methods: A retrospective analysis was conducted on 122 singleton high-risk pregnancies undergoing CMA between 2021 and 2022. High-risk status was based on advanced maternal age, abnormal screening results, USG anomalies, or relevant family history. A scoring system was applied to USG findings, assigning one point for each fetal system with an anomaly. CMA was performed as a first-tier test via amniocentesis. Maternal demographics, USG scores, CMA results, and pregnancy outcomes were recorded and analyzed.
Results: Abnormal CMA results were detected in 34 (27.9%) cases. Maternal age was significantly higher in the abnormal CMA group (median 32 years vs. 29 years, p=0.030). Among pregnancies with abnormal CMA results, the rates of continuation and termination were equal at 44.1% (n=15). USG anomalies were significantly more prevalent in patients with abnormal CMA results, particularly in the abdominal (OR=2.84, 95% CI=1.01-7.96, p=0.041) and skin (OR=5.85, 95% CI=1.63-21.03, p=0.006) systems. Higher USG scores were significantly associated with abnormal CMA results (p<0.001). The most common chromosomal abnormalities were deletions (n=20, 58.8%) and duplications (n=10, 29.4%).
Conclusion: USG findings, especially system-specific anomalies and elevated USG scores, are significantly associated with abnormal CMA results. Advanced maternal age is also a predictive factor. Integrating USG scoring with CMA may enhance the diagnostic value in prenatal genetic assessment. Multicenter prospective studies are needed to validate these findings and improve clinical application.

References

  • American College of Obstetricians and Gynecologists. Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108-22.
  • Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet. 2012;131(3):513-23.
  • Fiorentino F, Napoletano S, Caiazzo F, Sessa M, Bono S, Spizzichino L, et al. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet. 2013;21(7):725-30.
  • Hammond J, Klapwijk JE, Riedijk S, Lou S, Ormond KE, Vogel I, et al. Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design. PLoS One. 2022;17(1):e0261898.
  • Hsiao CH, Chen JS, Shiao YM, Chen YJ, Chen CH, Chu WC, et al. Prenatal diagnosis using chromosomal microarray analysis in high-risk pregnancies. J Clin Med. 2022;11(13):3624.
  • Tzela P, Antonakopoulos N, Anastasopoulos P, Gourounti K. Karyotyping and chromosomal microarray analysis in women requesting amniocentesis for isolated sonographic soft markers or advanced maternal age. Acta Inform Med. 2021;29(4):288-92.
  • Liu X, Liu S, Wang H, Hu T. Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis. Front Genet. 2022;13:938183.
  • Cai M, Lin N, Chen X, Fu M, Guo N, Xu L, et al. Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers. BMC Med Genomics. 2021;14(1):19.
  • Göktaş E, Ayaz R. Prenatal genetic diagnostic test outcomes in Van province and nearby cities in eastern Turkey. Duzce Med J. 2020;22(1):7-12.
  • Mastromoro G, Guadagnolo D, Khaleghi Hashemian N, Marchionni E, Traversa A, Pizzuti A. Molecular approaches in fetal malformations, dynamic anomalies and soft markers: diagnostic rates and challenges-systematic review of the literature and meta-analysis. Diagnostics (Basel). 2022;12(3):575.
  • Hawkins A, Stenzel A, Taylor J, Chock VY, Hudgins L. Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities. J Genet Couns. 2013;22(2):238-48.
  • Zhou Y, Wu S, Han J, Zhen L, Yang X, Li R, et al. Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China. Mol Cytogenet. 2023;16(1):3.
  • Shi Y, Ma J, Xue Y, Wang J, Yu B, Wang T. The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study. Ann Transl Med. 2019;7(14):318.

Kromozomal Mikroarray Analizinden Genetik Bilgiler: Yüksek Riskli Gebeliklerde Ultrasonografinin Tahmin Rolü

Year 2025, Issue: Early Access
https://doi.org/10.18678/dtfd.1632081

Abstract

Amaç: Bu çalışmanın amacı, yüksek riskli gebeliklerde kromozomal mikrodizi analizi (CMA) ile saptanan kromozomal anomalilerin saptanmasında prenatal ultrasonografi (USG) bulgularının prediktif değerinin araştırılmasıdır.
Gereç ve Yöntemler: 2021 ve 2022 yılları arasında CMA yapılan 122 tekil yüksek riskli gebelik ile geriye dönük bir analiz yapıldı. Yüksek risk durumu; ileri anne yaşı, tarama testlerinde anormallikler, USG anomalileri veya aile öyküsüne dayanılarak tanımlandı. USG bulgularına, her bir fetal sistem anomalisi için bir puan olacak şekilde bir skorlama sistemi uygulandı. CMA, amniyosentezle birinci basamak test olarak yapıldı. Anne demografik verileri, USG skorları, CMA sonuçları ve gebelik sonuçları kaydedildi ve analiz edildi.
Bulgular: Anormal CMA sonuçları 34 (%27,9) olguda tespit edildi. Anormal CMA grubunda anne yaşı anlamlı olarak daha yüksekti (ortanca 32 yıl vs. 29 yıl, p=0,030). Anormal CMA sonuçları olan gebelikler arasında devam ve sonlandırma oranları %44,1 (n=15) ile eşitti. Anormal CMA sonuçlu hastalarda, özellikle abdominal (OR=2,84, %95 CI=1,01-7,96, p=0,041) ve cilt (OR=5,85, %95 CI=1,63-21,03, p=0,006) sistemlerinde olmak üzere, USG anomalileri anlamlı derecede daha yaygındı. Daha yüksek USG skorları anormal CMA sonuçlarıyla anlamlı bir derecede ilişkiliydi (p<0,001). En yaygın görülen kromozomal anomaliler delesyonlar (n=20, %58,8) ve duplikasyonlardı (n=10, %29,4).
Sonuç: USG bulguları, özellikle sisteme özgü anomaliler ve yüksek USG skorları, anormal CMA sonuçlarıyla anlamlı şekilde ilişkilidir. İleri anne yaşı da öngörücü bir faktördür. USG skorunun CMA ile birlikte değerlendirilmesi, prenatal genetik değerlendirmede tanı değerini artırabilir. Bu bulguları doğrulamak ve klinik uygulamayı iyileştirmek için çok merkezli prospektif çalışmalara ihtiyaç vardır.

References

  • American College of Obstetricians and Gynecologists. Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108-22.
  • Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet. 2012;131(3):513-23.
  • Fiorentino F, Napoletano S, Caiazzo F, Sessa M, Bono S, Spizzichino L, et al. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet. 2013;21(7):725-30.
  • Hammond J, Klapwijk JE, Riedijk S, Lou S, Ormond KE, Vogel I, et al. Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design. PLoS One. 2022;17(1):e0261898.
  • Hsiao CH, Chen JS, Shiao YM, Chen YJ, Chen CH, Chu WC, et al. Prenatal diagnosis using chromosomal microarray analysis in high-risk pregnancies. J Clin Med. 2022;11(13):3624.
  • Tzela P, Antonakopoulos N, Anastasopoulos P, Gourounti K. Karyotyping and chromosomal microarray analysis in women requesting amniocentesis for isolated sonographic soft markers or advanced maternal age. Acta Inform Med. 2021;29(4):288-92.
  • Liu X, Liu S, Wang H, Hu T. Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis. Front Genet. 2022;13:938183.
  • Cai M, Lin N, Chen X, Fu M, Guo N, Xu L, et al. Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers. BMC Med Genomics. 2021;14(1):19.
  • Göktaş E, Ayaz R. Prenatal genetic diagnostic test outcomes in Van province and nearby cities in eastern Turkey. Duzce Med J. 2020;22(1):7-12.
  • Mastromoro G, Guadagnolo D, Khaleghi Hashemian N, Marchionni E, Traversa A, Pizzuti A. Molecular approaches in fetal malformations, dynamic anomalies and soft markers: diagnostic rates and challenges-systematic review of the literature and meta-analysis. Diagnostics (Basel). 2022;12(3):575.
  • Hawkins A, Stenzel A, Taylor J, Chock VY, Hudgins L. Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities. J Genet Couns. 2013;22(2):238-48.
  • Zhou Y, Wu S, Han J, Zhen L, Yang X, Li R, et al. Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China. Mol Cytogenet. 2023;16(1):3.
  • Shi Y, Ma J, Xue Y, Wang J, Yu B, Wang T. The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study. Ann Transl Med. 2019;7(14):318.
There are 13 citations in total.

Details

Primary Language English
Subjects Obstetrics and Gynaecology
Journal Section Research Article
Authors

Sabri Kurtay 0000-0003-0867-6972

Cuma Taşın 0000-0002-9315-4791

Early Pub Date October 1, 2025
Publication Date October 6, 2025
Submission Date February 4, 2025
Acceptance Date September 3, 2025
Published in Issue Year 2025 Issue: Early Access

Cite

APA Kurtay, S., & Taşın, C. (2025). Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies. Duzce Medical Journal(Early Access). https://doi.org/10.18678/dtfd.1632081
AMA Kurtay S, Taşın C. Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies. Duzce Med J. October 2025;(Early Access). doi:10.18678/dtfd.1632081
Chicago Kurtay, Sabri, and Cuma Taşın. “Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies”. Duzce Medical Journal, no. Early Access (October 2025). https://doi.org/10.18678/dtfd.1632081.
EndNote Kurtay S, Taşın C (October 1, 2025) Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies. Duzce Medical Journal Early Access
IEEE S. Kurtay and C. Taşın, “Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies”, Duzce Med J, no. Early Access, October2025, doi: 10.18678/dtfd.1632081.
ISNAD Kurtay, Sabri - Taşın, Cuma. “Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies”. Duzce Medical Journal Early Access (October2025). https://doi.org/10.18678/dtfd.1632081.
JAMA Kurtay S, Taşın C. Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies. Duzce Med J. 2025. doi:10.18678/dtfd.1632081.
MLA Kurtay, Sabri and Cuma Taşın. “Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies”. Duzce Medical Journal, no. Early Access, 2025, doi:10.18678/dtfd.1632081.
Vancouver Kurtay S, Taşın C. Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies. Duzce Med J. 2025(Early Access).