دورية أكاديمية
Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications.
| العنوان: | Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications. |
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| المؤلفون: | Li H; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Hu J; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Wu Q; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Qiu J; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Zhang L; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Zhu J; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China. zhujinping870714@126.com. |
| المصدر: | Scientific reports [Sci Rep] 2024 Jul 10; Vol. 14 (1), pp. 15920. Date of Electronic Publication: 2024 Jul 10. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : Nature Publishing Group, copyright 2011- |
| مواضيع طبية MeSH: | Chromosome Aberrations* , Prenatal Diagnosis*/methods , Pregnancy Outcome* , Microarray Analysis*/methods, Humans ; Pregnancy ; Female ; Adult ; DNA Copy Number Variations ; Chromosome Disorders/diagnosis ; Chromosome Disorders/genetics ; China/epidemiology ; Fetus ; Pregnancy, High-Risk ; Maternal Age |
| مستخلص: | With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the number of women with high-risk pregnancies is gradually increasing. In this study, 4211 fetuses who underwent chromosomal microarray analysis (CMA) with high-risk prenatal indications were analysed. The results showed that the overall prenatal detection rate of CMA was 11.4% (480/4211), with detection rates of 5.82% (245/4211) for abnormal chromosome numbers and 5.58% (235/4211) for copy number variants. Additionally, the detection rates of clinically significant copy number variants were 3.78% (159/4211) and 1.8% (76/4211) for variants of uncertain significance. The detection rates of fetal chromosomal abnormalities were 6.42% (30/467) for pregnant women with advanced maternal age (AMA), 6.01% (50/832) for high-risk maternal serum screening (MSS) results, 39.09% (224/573) with abnormal non-invasive prenatal testing (NIPT) results, 9.21% (127/1379) with abnormal ultrasound results, and 5.1% (49/960) for other indications. Follow-up results were available for 4211 patients, including 3677 (3677/4211, 87.32%) whose infants were normal after birth, 462 (462/4211, 10.97%) who terminated their pregnancy, 51 (51/4211, 1.21%) whose infants were abnormal after birth, and 21 (21/4211, 0.50%) who refused follow-up. The results of this study demonstrate significant variation in the diagnostic rate of chromosomal microarray analysis across different indications, providing valuable guidance for clinicians to assess the applicability of CMA technology in prenatal diagnosis. (© 2024. The Author(s).) |
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| معلومات مُعتمدة: | 2022YX0111 National Key Research & Development Program of Liyin |
| فهرسة مساهمة: | Keywords: Chromosomal microarray analysis; Copy number variations; Pregnancy outcomes; Prenatal diagnosis |
| تواريخ الأحداث: | Date Created: 20240710 Date Completed: 20240710 Latest Revision: 20240730 |
| رمز التحديث: | 20240731 |
| مُعرف محوري في PubMed: | PMC11237145 |
| DOI: | 10.1038/s41598-024-67123-5 |
| PMID: | 38987582 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2045-2322 |
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| DOI: | 10.1038/s41598-024-67123-5 |