Academic Journal
Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort.
| Τίτλος: | Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort. |
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| Συγγραφείς: | Liu J; Guangzhou Huadu District Maternal and Child Health Care Hospital (Hu Zhong Hospital), Guangzhou, Guangdong, China., Lin K; Guangzhou Huadu District Maternal and Child Health Care Hospital (Hu Zhong Hospital), Guangzhou, Guangdong, China., Mai Z; Guangzhou Huadu District Maternal and Child Health Care Hospital (Hu Zhong Hospital), Guangzhou, Guangdong, China., Zhang Y; Guangzhou Huadu District Maternal and Child Health Care Hospital (Hu Zhong Hospital), Guangzhou, Guangdong, China., Li X; Guangzhou Huadu District Maternal and Child Health Care Hospital (Hu Zhong Hospital), Guangzhou, Guangdong, China., Meng X; Guangzhou Huadu District Maternal and Child Health Care Hospital (Hu Zhong Hospital), Guangzhou, Guangdong, China., Chen H; Guangzhou Huadu District Maternal and Child Health Care Hospital (Hu Zhong Hospital), Guangzhou, Guangdong, China. 527538053@qq.com. |
| Πηγή: | Scientific reports [Sci Rep] 2026 Apr 14; Vol. 16 (1). Date of Electronic Publication: 2026 Apr 14. |
| Τύπος έκδοσης: | Journal Article; Comparative Study |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | 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 |
| Imprint Name(s): | Original Publication: London : Nature Publishing Group, copyright 2011- |
| Ιατρικοί όροι (MeSH): | Karyotyping*/methods , Exome Sequencing*/methods , Fetal Growth Retardation*/genetics , Fetal Growth Retardation*/diagnosis , Microarray Analysis*/methods, Prenatal Diagnosis/methods ; Humans ; Female ; Cohort Studies ; Pregnancy ; Genetic Variation |
| Περίληψη: | This study aims to systematically evaluate the diagnostic yields of karyotyping, chromosomal microarray analysis (CMA), and whole-exome sequencing (WES) in an unselected cohort of fetuses with fetal growth restriction (FGR). A total of 129 FGR fetuses were included, of which 64 underwent all three genetic tests, enabling a head-to-head comparison. Among these 64 cases, WES detected genetic variants in 25.0% (16/64), compared to 9.4% (6/64) for CMA and 3.1% (2/64) for karyotyping. Notably, in cases negative by both karyotyping and CMA, WES provided an additional diagnostic yield of 15.6%. Even in isolated FGR, WES identified variants in 23.6% (13/55) of cases. Follow-up data at one year of age revealed that infants born after FGR had an increased risk of postnatal growth retardation (16.1%) and delayed language development (9.7%). This study demonstrates that in a real-world, phenotypically unselected FGR cohort, WES substantially increases variant detection, particularly in cases where conventional testing is negative. |
| Competing Interests: | Declarations. Competing interests: The authors declare no competing interests. |
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| Grant Information: | 24HDQYLH30 Huadu District Basic and Applied Basic Research District-Hospital Joint Funding Project; 24-HDWS-072 Huadu District Medical and Health General Research Special Project; 24-HDWS-068 Huadu District Medical and Health General Research Special Project; 20251A010104 Guangzhou Health Science and Technology General Guidance Project; 202201011773 the Guangzhou Basic and Applied Basic Research Project; 20231A010078 the Guangzhou Western Medicine General Guidance Project |
| Entry Date(s): | Date Created: 20260414 Date Completed: 20260627 Latest Revision: 20260813 |
| Update Code: | 20260813 |
| PubMed Central ID: | PMC13234156 |
| DOI: | 10.1038/s41598-026-47909-5 |
| PMID: | 41981119 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 2045-2322 |
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| DOI: | 10.1038/s41598-026-47909-5 |