Technologies in Reproductive Screening and Diagnosis SIG Update

Natalie Chandler, FRCPath, PhD
Francesca Romana Grati, MSCs, PhD

Co-Chairs, Technologies in Reproductive Screening and Diagnosis SIG

In the fetal sequencing survey conducted through ISPD and presented at the conference in Edinburgh last year it was surprising that 54% of responders said that their laboratory did not participate in External Quality Assessment (EQA). EQA is a system for objectively checking the laboratory’s performance using an external agency or facility. The goal of EQA is to enhance patient safety and patient care by assuring laboratories provide accurate testing and appropriate reporting of results. This also identifies areas for improvement in laboratory testing through benchmarking laboratories providing the same clinical services. Participation in EQA is an essential for a laboratory to achieve accreditation to international standards i.e., ISO15189, ISO17025.
There are a wide range of EQAs available that are applicable for ISPD members from DNA extraction through to testing and reporting for a range of clinical referrals. There are also a number of pilot schemes running. To highlight some schemes from GenQA for 2024 (EQAs (genqa.org)):
Carrier screening (preconception)
Prenatal CNV detection
Pathogenicity of prenatal CNVs
Trio exome sequencing
NIPT for common aneuplodies
NIPT for early fetal sexing
NIPT for microdeletions
NIPT to fetal RhD status
PGT-M
PGT-A
PGT-SR 
Genetic counselling pilot
MDT for rare disease pilot
TO COME: DNA extraction from prenatal samples (pilot)

The latter relates to one gap that has been identified in the range of EQAs available which is the extraction of DNA from invasive prenatal samples. DNA yield is a known problem from these sample types, and as technologies such as long read sequencing and optical genome mapping requiring high inputs of high integrity DNA are rapidly advancing, it is imperative that laboratories have a way of assessing the quality of their prenatal extractions. Work is underway with GenQA to collate ideas for how such an EQA could be developed.