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Genome sequencing combining prenatal ultrasound in the evaluation of fetal CNS structural anomalies

2020-03-06 genetic and genomic medicine Title + abstract only
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PurposeGenome sequencing (GS) is potentially the most suitable diagnostic tools for fetal CNS structural anomalies. However, its efficacy hasnt been proved in large cohort of fetal CNS structural anomalies. MethodsPatients were enrolled by a multiple-level referral system when fetal CNS structure anomalies were found by ultrasonography. Samples from fetuses were subjected to GS. ResultsData of 162 fetuses with 11 frequent types of CNS anomalies was collected. The overall diagnosis yield of GS ...

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