Academic Journal
Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single-center comparative study with karyotyping.
| Τίτλος: | Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single-center comparative study with karyotyping. |
|---|---|
| Συγγραφείς: | Wang K; School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, China.; Department of Clinical Laboratory, The Affiliated Hospital (Group) of Putian University, Putian, Fujian, China., Xu L; Department of Clinical Laboratory, Putian First Hospital, Putian, Fujian, China., Fang L; Department of Ultrasound, The Affiliated Hospital (Group) of Putian University, Putian, Fujian, China., Lin H; School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, China.; Department of Clinical Laboratory, The Affiliated Hospital (Group) of Putian University, Putian, Fujian, China. |
| Πηγή: | International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics [Int J Gynaecol Obstet] 2026 Aug; Vol. 174 (2), pp. 1036-1043. Date of Electronic Publication: 2026 Mar 09. |
| Τύπος έκδοσης: | Journal Article; Comparative Study |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Wiley Country of Publication: United States NLM ID: 0210174 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3479 (Electronic) Linking ISSN: 00207292 NLM ISO Abbreviation: Int J Gynaecol Obstet Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2017- : Malden, MA : Wiley Original Publication: [New York, NY] Hoeber Medical Division, Harper & Row, [c1969- |
| Ιατρικοί όροι (MeSH): | Karyotyping*/methods , Microarray Analysis*/methods , Prenatal Diagnosis*/methods , Ultrasonography, Prenatal*/methods , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Chromosome Aberrations*, Humans ; Female ; Retrospective Studies ; Pregnancy ; DNA Copy Number Variations ; Adult ; Amniocentesis ; Gestational Age |
| Περίληψη: | Objective: Cardiac soft markers are subtle mid-trimester sonographic findings that may indicate an increased risk of chromosomal abnormalities. While conventional karyotyping remains the standard for detecting aneuploidies and balanced rearrangements, chromosomal microarray analysis (CMA) offers higher resolution for submicroscopic copy number variations (CNVs). However, the incremental diagnostic value of CMA in fetuses with cardiac soft markers, particularly in Chinese populations, remains underexplored. This study aimed to compare the diagnostic yield of CMA and karyotyping in fetuses with cardiac soft markers and evaluate the association between marker type and CMA outcomes. Methods: We conducted a retrospective analysis of 42 singleton pregnancies (gestational age: 18+3-23+6 weeks) with fetal cardiac soft markers who underwent amniocentesis at Putian First Hospital between June 2022 and December 2023. Both G-banding karyotyping and Affymetrix CytoScan 750K SNP-array CMA were performed. CNVs were classified according to ACMG guidelines. Postnatal follow-up was conducted until September 2024. Results: CMA identified pathogenic or likely pathogenic (P/LP) copy number variations (CNVs) in 4.8% (2/42) of cases, specifically two 17q12 deletions. Additionally, variants of uncertain significance (VOUS) were found in 19.0% (8/42). In contrast, karyotyping detected chromosomal abnormalities of potential clinical significance in 2.4% (1/42, a de novo translocation t (3;19) (p14;q12)), with the remaining two findings (a common inversion polymorphism and likely maternal cell contamination) considered unlikely to be of clinical relevance to the fetus. Conclusion: CMA detected pathogenic CNVs that were missed by karyotyping, demonstrating its incremental value. However, karyotyping remains essential for identifying balanced chromosomal rearrangements. Our findings support the complementary use of CMA and karyotyping in prenatal diagnosis of fetuses with ≥2 cardiac soft markers, although larger prospective studies are warranted to validate these observations. (© 2026 International Federation of Gynecology and Obstetrics.) |
| References: | Am J Obstet Gynecol. 2021 Oct;225(4):B2-B15. (PMID: 34171388) Diagnostics (Basel). 2022 Feb 23;12(3):. (PMID: 35328129) Ultrasound Obstet Gynecol. 2018 Apr;51(4):445-452. (PMID: 28556491) Ultrasound Obstet Gynecol. 2023 Feb;61(2):267-269. (PMID: 36567481) Genet Med. 2013 Jun;15(6):478-81. (PMID: 23258348) Ann Pediatr Cardiol. 2017 May-Aug;10(2):190-193. (PMID: 28566828) Congenit Anom (Kyoto). 2025 Jan-Dec;65(1):e70011. (PMID: 40443106) Medicine (Baltimore). 2025 Nov 28;104(48):e46108. (PMID: 41327724) Genet Med. 2011 Jul;13(7):680-5. (PMID: 21681106) Genet Med. 2019 Nov;21(11):2462-2467. (PMID: 31123319) Front Genet. 2021 Mar 26;12:626044. (PMID: 33868367) BMC Med Genomics. 2021 Jan 12;14(1):19. (PMID: 33435955) Ultrasound Obstet Gynecol. 2021 Jul;58(1):148-168. (PMID: 33794043) Genet Med. 2020 Feb;22(2):245-257. (PMID: 31690835) Obstet Gynecol Sci. 2022 Mar;65(2):145-155. (PMID: 35184524) J Clin Lab Anal. 2025 May;39(10):e70033. (PMID: 40192178) J Obstet Gynaecol Res. 2023 Jun;49(6):1624-1627. (PMID: 36907825) Saudi J Anaesth. 2023 Jul-Sep;17(3):391-393. (PMID: 37601497) Int J Mol Cell Med. 2017 Winter;6(1):61-65. (PMID: 28868271) Genet Med. 2018 Aug;20(8):791-799. (PMID: 30032162) Front Endocrinol (Lausanne). 2024 Apr 18;15:1368990. (PMID: 38699388) Adv Neurobiol. 2024;37:457-495. (PMID: 39207708) J Korean Med Sci. 2024 Mar 04;39(8):e70. (PMID: 38442716) N Engl J Med. 2012 Dec 6;367(23):2175-84. (PMID: 23215555) J Matern Fetal Neonatal Med. 2016;29(14):2293-6. (PMID: 26372104) BMC Endocr Disord. 2022 Mar 26;22(1):77. (PMID: 35346144) Ultrasound Obstet Gynecol. 2010 Nov;36(5):548-52. (PMID: 20503237) Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1165-1170. (PMID: 34839499) Prenat Diagn. 2023 Mar;43(3):400-401. (PMID: 36732926) Zhonghua Fu Chan Ke Za Zhi. 2014 Mar;49(3):188-92. (PMID: 24820303) Harefuah. 2024 Jun;163(6):365-368. (PMID: 38884289) Int J Gynaecol Obstet. 2026 Aug;174(2):1036-1043. (PMID: 41797700) Matern Fetal Med. 2025 Oct;7(4):244-255. (PMID: 41158427) |
| Grant Information: | 2023S3F009 Science and Technology Project of Putian |
| Contributed Indexing: | Keywords: cardiac soft markers; chromosomal microarray analysis; copy number variation; karyotyping; prenatal diagnosis |
| Entry Date(s): | Date Created: 20260309 Date Completed: 20260717 Latest Revision: 20260813 |
| Update Code: | 20260813 |
| PubMed Central ID: | PMC13377368 |
| DOI: | 10.1002/ijgo.70935 |
| PMID: | 41797700 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1879-3479 |
|---|---|
| DOI: | 10.1002/ijgo.70935 |