Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

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This study found that 16p11.2 copy number variants (along with several other genetic changes) can be detected through prenatal chromosomal testing in fetuses showing kidney abnormalities on ultrasound, suggesting that families with a 16p11.2 diagnosis may want to discuss kidney ultrasound monitoring with their care team during pregnancy.