Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.
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DOI: 10.1002/pd.70006
Abstract: OBJECTIVE To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES-CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA)… read more here.
Keywords: analysis; structural anomalies; cnv snv; cnv ... See more keywords