Addition of 24-chromosome microarray analysis to standard testing identifies a probable or definitive cause in over 90% of recurrent miscarriages

http://www.ucl.ac.uk/

The new method of 24 Chromosome Microarray, or comprehensive chromosomal screening when added to the standard Recurrent Pregnancy Loss (RPL) evaluation of American Society for Reproductive Medicine (ASRM) could provide a probable or definitive cause in over 90% of patients reports the result of a small prospective cohort study published 1 April 2018 in Journal of Human Reproduction.

In the absence of definitive etiologies and treatment strategies, RPL is one of the most frustrating and difficult to treat entity in reproductive medicine. It affects 2%-5% of couples and a cause can be found only in 50% of the couples after undergoing the standard ASRM workup.

This single-center study included 100 patients from a private RPL clinic from 2014 to 2017. The maternal age was between 26 to 45 years.

All 100 women had two or more pregnancy losses, with a complete evaluation for RPL as defined by the ASRM, and miscarriage tissue evaluated by 24-chromosome microarray analysis after their second or subsequent miscarriage.

In 95 of 100 patients, a probable or definitive cause of pregnancy loss was identified when 24-chromosome microarray analysis was combined with the standard ASRM RPL workup evaluation at the time of second or subsequent miscarriage.

The standard ASRM RPL workup done alone could only identify an abnormality or cause of miscarriage in 45 of 100 patients while 24-chromosome microarray analysis identified an abnormality in 67 of 100 patients when performed as the initial test on miscarriage tissue.

In only 5 of 100 patients, no cause could be found even after combined testing by ASRM RPL workup and 24-chromosome microarray analysis.

The authors concluded that combining the standard workup and genetic evaluation on miscarriage tissue obtained at the time of the second and subsequent pregnancy losses could offer much more answers towards the probable or definitive cause of RPL. It should be routinely offered to couples who have had two or more consecutive pregnancy losses.

Abstract

Ob/Gyn Updated Facebook page