Chromosome Analysis and Postnatal Follow-Up of Fetuses With Abnormal Ultrasound Findings

Abstract

Objective—To analyze the correlation between copy number variations (CNVs) and prenatal ultrasound abnormalities, characterize the CNVs in diverse prenatal phenotypes, and provide detailed follow-up results for prenatal diagnosis. Method—The results obtained in 1152 fetuses referred for chromosome testing due to different ultrasound anomalies were analyzed. CNV detection was performed by chromosomal microarray analysis (CMA) and copy number variation sequencing (CNV-seq). The postnatal outcomes of the fetuses were followed up.Result—Chromosomal abnormalities were detected in 149 of 1152 pregnancies (12.9%), including 84 (7.3%) macroscopic and 65 (5.6%) submicroscopic anomalies. The highest proportion of chromosomal defects was found in fetuses with hydrops (38.5%), followed by fetuses with multiple abnormalities (32.1%). The most common CNV number variation was 22q11 deletion (0.7%), followed by 17q12 deletion (0.4%) and 15q11.2 deletion (0.4%). Bilateral hyperechogenic kidneys were identified in all fetuses with the 17q12 deletion, and all cases of 15q11.2 deletion were positive only for soft markers. On postnatal follow-up of 362 live births, 2 cases of esophageal atresia and 2 cases of craniosynostosis were found that were not accurately diagnosed by prenatal ultrasound.Conclusion—we identified chromosomal abnormalities in approximately one eight of the pregnancies with abnormal ultrasound findings. More emphasis should be placed on the improvement of prenatal detection of esophageal atresia and craniosynostosis.