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The following is a summary of “Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome,” published in the January 2025 issue of Pediatrics by Wang et al.
The 1q21.1 deletion and duplication syndromes are linked to various clinical features. The intrauterine features, particularly prenatal ultrasound findings, remain underexplored in these conditions.
Researchers conducted a retrospective study to analyze prenatal ultrasound phenotypes in fetuses with recurrent 1q21.1 deletion and duplication syndromes.
They obtained prenatal samples of amniotic fluid and chorionic villus through amniocentesis and chorionic villus sampling, and 43 fetuses were diagnosed with 1q21.1 deletion or duplication syndrome using array comparative genomic hybridization (aCGH) or copy number variation sequencing (CNV-seq). Prenatal clinical data, pregnancy outcomes, and post-birth conditions were collected.
The results showed 20 fetuses were diagnosed with 1q21.1 deletion syndrome, with 11 having abnormal ultrasound findings. Standard ultrasound features included renal anomalies, musculoskeletal abnormalities, and increased nuchal translucency (NT). Less common findings included neurologic abnormalities, cardiovascular defects, absence of the gallbladder, intrauterine growth restriction, and cervical cystic hygroma. In addition, 23 fetuses were diagnosed with 1q21.1 duplication syndrome, with 11 showing abnormal ultrasound findings. Standard features included nasal bone abnormalities, cardiovascular defects, increased NT, and neurologic abnormalities.
They concluded that the prenatal phenotypes of recurrent 1q21.1 deletion and duplication syndromes were diverse and had incomplete penetrance, broadening the understanding of intrauterine features associated with both syndromes.
Source: frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1504122/abstract
