Does a High-Risk (>1/50) Result for First-Trimester Combined Screening Always Entail Invasive Testing? Which Patients from This Group Might Benefit from cfDNA Testing?

Currently, cell-free DNA (cfDNA) is offered as part of a contingent screening for patients with a first-trimester combined test (FCT) risk between 1/50 and 1/250. However, most aneuploidies are within the group of patients with a risk above 1/10. An observational, retrospective, and multi-centric study was carried out, to evaluate the theorical performance of lowering the cut-off point for the high-risk group from 1/50 to 1/10.

Clinical and Economic Evaluation after Adopting Contingent Cell-Free DNA Screening for Fetal Trisomies in South Spain.

Introduction: Contingent cell-free (cf) DNA screening on the basis of the first-trimester combined test (FCT) results has emerged as a cost-effective strategy for screening of trisomy 21 (T21).

Objectives: To assess performance, patients' uptake, and cost of contingent cfDNA screening and to compare them with those of the established FCT.

Methods: This is a prospective cohort study including all singleton pregnancies attending to their FCT for screening of T21 at 2 university hospitals in South Spain.

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.

Objective: Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF.