What does this research mean for the field?

KBG syndrome exhibits heterogeneous prenatal manifestations, most notably fetal growth restriction and increased nuchal translucency, and is primarily driven by 16q24.3 microdeletions and ANKRD11 loss-of-function variants. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To characterize prenatal sonographic features, genomic findings from chromosomal microarray analysis and whole-exome sequencing, and pregnancy outcomes in fetuses with KBG syndrome.

August 24, 2026Prenatal Diagnosis

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases

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Authors

XYXi YangSouthwest University of Science and Technology HDHongke DingLudong University RHRong HuGuangzhou Women and Children Medical Center

Discussion

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Implication

Cohort study reveals diverse sonographic anomalies and ANKRD11 alterations in fetuses with KBG syndrome, highlighting the diagnostic utility of combined prenatal genomic testing.

Key Points

To characterize prenatal sonographic features, genomic findings from chromosomal microarray analysis and whole-exome sequencing, and pregnancy outcomes in fetuses with KBG syndrome.
Retrospectively analyzed prenatal ultrasound scans, genomic testing data, and pregnancy outcomes across 19 fetuses with KBG syndrome.
Evaluated genomic alterations using chromosomal microarray analysis (CMA) and whole-exome sequencing (WES).
Genomic evaluation identified 16q24.3 microdeletions in 7 fetuses (with 5 involving non-coding exons 1–2) and ANKRD11 variants in 12 fetuses (11 loss-of-function and 5 novel variants).
Prenatal ultrasound identified fetal growth restriction in 36.8% (n=7/19) and increased nuchal translucency in 26.3% (n=5/19), with ventricular septal defects, pericardial effusion, central nervous system, and renal anomalies each present in 15.8% (n=3/19).
Among the 19 affected pregnancies, 15 resulted in elective termination (78.9%) and 4 proceeded to live birth (21.1%).

Cite This Study

Yang et al. (2026) studied this question.

synapsesocial.com/papers/6a8c009fbca056c88e6df5f0 https://doi.org/10.1002/pd.70241

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Implication

Cohort study reveals diverse sonographic anomalies and ANKRD11 alterations in fetuses with KBG syndrome, highlighting the diagnostic utility of combined prenatal genomic testing.

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases

Discussion

Member takes

Implication

Key Points

Cite This Study

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases

Discussion

Member takes

Implication

Key Points

Cite This Study

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