Chromosomal causes of miscarriages
Spontaneous miscarriage is reported in approximately 10-15% of all clinically recognized pregnancies. Chromosomal aneuploidies are often regarded as the most common cause of first-trimester miscarriage, resulting in 50% of spontaneous abortions approximately2. Aneuploidies evident from the POC involve almost every chromosome (as shown in the image below), with trisomies as the most frequent one3.
The value of testing POC
While taking into account the impact of genetic factors on miscarriages, POC testing can be regarded as immensely essential testing following an early pregnancy loss. Majority of miscarriages are caused by sporadic chromosomal abnormalities, and the chances of recurrence of such foetal aneuploidies reduce with subsequent pregnancies4. While several chromosomal abnormalities responsible for miscarriages are sporadic and possess a low recurrence risk, some abnormalities (like translocations) are presumed to significantly enhance the risk of recurrence – which might further demand parental karyotyping.
The POC testing can identify pregnancy losses related to chromosomal abnormalities, thereby, preventing patients from undergoing unnecessary and costly evaluations5. Moreover, the psychological advantage of the assessment of the aetiology of foetal loss, cannot be understated5. Additionally, if the test excludes the contribution of fetal chromosomal abnormality for the miscarriage then, other possible physiological reasons could be traced and treated. Therefore, genetic testing results can be utilised as a guide for counselling future pregnancies.
Current Challenges of POC Testing with Conventional Karyotyping
|High Failure Rate Due to Culture Failure||Inability to Pick Up Maternal Cell Contamination||Low Resolution : 5MB is the smallest deletion/gain can detect|
Lifecell Diagnostics’ Products of Conception (POC) testing Option:
This test package evaluates fetal cells after a pregnancy loss and is performed using a combination of chromosomal microarray and advanced QF PCR to detect chromosomal or other genetic abnormalities in the evaluation of miscarriages and IUFD.