ArticleBMC pregnancy and childbirth2025
Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis.
Article in BMC pregnancy and childbirth, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing.Prenatal diagnosis · 2026Article
- Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort.Scientific reports · 2026Article
- Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction.Frontiers in medicine · 2026Article
- Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction.Frontiers in genetics · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
backgroundAlthough extensively investigated, the genetic etiology of fetal growth restriction (FGR) has not been fully understood. Previous studies have shown the potential of karyotyping, chromosomal microarray analysis (CMA) and trio-based WES (trio-WES) in prenatal diagnosis, however, there is little knowledge on the comparative effectiveness of these three prenatal genetic tools. The present study aimed to evaluate and compare the effectiveness of karyotyping, CMA and trio-WES for prenatal diagnosis and prognostic evaluation of FGR, in order to identify the optimal genetic diagnostic testing of FGR.
methodsAll clinical data were retrospectively collected from 388 pregnant women that received invasive prenatal diagnosis due to FGR in Wenzhou Central Hospital and Fujian Maternity and Child Health Hospital during the period from April 2015 to August 2024. All fetuses received karyotyping and CMA, and additional trio-WES was performed among 26 pregnancies negative for karyotyping and CMA. The effectiveness of karyotyping, CMA, and trio-WES alone and in combinations was evaluated for diagnosis of chromosomal abnormality in pregnancies with FGR, and the pregnancy outcomes were followed up.
resultsKaryotyping detected a 4.38% (17/388) chromosomal abnormality rate and CMA detected a 13.4% (52/388) chromosomal abnormality rate, which resulted in a 9.28% (36/388)incremental yield above karyotyping. The diagnostic yield of Karyotyping combined with CMA was 13.66% (53/388). The common microdeletion and microduplication syndromes included 4p16.3.3 microdeletion syndrome, 1q21.2 microduplication syndrome, 16p13.3 microdeletion syndrome and 22q11.21 microduplication syndrome. Trio-WES revealed a high detection rate (30.77%,8/26) for diagnosis of P/LP variants, and the growth- and development-related genes included IGF1R, GNAS, COL9A3, FGD1, FLNB, PORCN, EVC, OTX2 and GH1. Of all pregnancies with FGR, the proportions of live births, induced labors, natural abortion, perinatal mortality, and percentage of loss to follow-up were 70.62% (274/388), 19.84% (77/388), 0.52% (2/388), 1.80% (7/388) and 7.22% (28/388), respectively.
conclusionsKaryotyping combined with CMA remains the first-tier tool for prenatal genetic diagnosis of pregnancies with FGR, and additional trio-WES may increase the detection of chromosomal abnormality. IGF1R, GNAS, COL9A3 and FGD1 may be candidate genes causing FGR.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.