Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.

With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year.

Pregnancy-associated plasma protein A (PAPP-A) to predict adverse fetal outcomes in Chinese: What is the optimal cutoff value?

A low level of PAPP-A predicts adverse fetal outcomes. As Chinese pregnant women have a higher level of PAPP-A, the predictive performance of PAPP-A and its optimal cutoff value might be different. This study aims to establish a PAPP-A cutoff value in the Chinese population that identifies adverse fetal outcomes.