ArticleJournal of clinical laboratory analysis2026
Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations.
Article in Journal of clinical laboratory analysis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
objectiveThis study aimed to assess the value of genetic testing in the prenatal congenital heart disease (CHD) diagnosis and evaluate the relationship between genetic variants and prenatal phenotypes.
methodsA total of 235 fetuses with CHD were classified into three groups: A: isolated simple CHD, B: isolated complex CHD, and C: non-isolated CHD. All patients underwent karyotyping and copy number variation sequencing (CNV-seq), with whole-exome sequencing (WES) performed when indicated. Statistical analyses conducted using IBM SPSS assessed the diagnostic performance of the genetic testing and detection rates across CHD subtypes.
resultsKaryotyping and CNV-seq revealed that chromosomal abnormality detection, particularly numerical abnormalities, was significantly associated with extracardiac anomalies (p < 0.05). In contrast, the detection rates of pathogenic/likely pathogenic (P/LP) CNVs (CNV-seq, p = 0.384) and pathogenic gene variants (WES, p = 0.624) did not differ significantly among the three groups. The severity of intracardiac abnormalities, the presence of extracardiac anomalies, and the detection of genetic abnormalities significantly influenced parental decisions regarding pregnancy termination (p < 0.05). The combination of karyotyping and CNV-seq increased the detection rate by 5.11%. In karyotyping/CNV-seq-negative fetuses who underwent WES, WES increased the detection rate by 37.21% (16/43).
conclusionCombined genetic testing significantly improved the detection rate and the detection of chromosomal numerical abnormalities was strongly associated with the presence of extracardiac anomalies. Parental decisions regarding pregnancy continuation were significantly influenced by the severity of intracardiac abnormalities, the presence of extracardiac anomalies, and the identification of genetic abnormalities.
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.