The POCScreen test offered by Next Biosciences employs next generation sequencing technology to rapidly and accurately screen products of conception for abnormal chromosome numbers, and large genetic deletions and/or duplications of chromosomal material.
The test aims to give patients answers after a loss and provide healthcare providers with information for reproductive counselling.
Although many chromosomal abnormalities that cause miscarriages are sporadic and have a low recurrence risk, some abnormalities (such as translocations) are expected to significantly increase the risk of recurrence- which may necessitate parental karyotyping.
By identifying the (approximately) 50% of women whose pregnancy loss was due to chromosomal abnormalities, comprehensive chromosome screening will prevent a large proportion of patients undertaking unnecessary and costly evaluations. Furthermore, the psychological benefit of identifying the aetiology of a fetal loss, cannot be understated.
If a fetal chromosomal abnormality is excluded, there may be a possible treatable cause for a given miscarriage, and investigations can be focussed on identifying this.
Genetic testing outcomes can, therefore, be used to guide counselling for future pregnancies.