Reproductive failure is a continuum, which can be defined by inability to conceive or carry the pregnancy to term. This umbrella term includes sub-fertility, implantation failures in IVF and/ or pregnancy losses

It is the most common clinical presentation in reproductive age group as:

• 10-15% couples present with sub-fertility
• 50-70% spontaneous conceptions never become clinically apparent
• 15-20% clinically apparent conceptions result in miscarriage/pregnancy loss
• 2-5% of couples face recurrent pregnancy losses
• 70% of embryos transferred during IVF fail to implant and it is estimated that 10-15% of couples undergoing IVF, face recurrent implantation failures

A clinical and genetic evaluation is important because:

• Family may have anxiety, guilt or fear of another pregnancy
• In case an etiological or contributing factor is identified, an appropriate counseling and management can be offered
• Etiological classification for all the subgroups of reproductive failure is overlapping and a genetic evaluation is essential in most of the cases because:
• Up to 2-10% of couples with sub fertility have chromosomal abnormalities (mainly numerical sex chromosomal abnormality or a balanced chromosomal rearrangement)
• 90% cases of implantation failures and 50-70% early pregnancy losses (<12 weeks) are due to chromosomal anomalies in the embryos/conceptus
• 2-5% of couples dealing with recurrent IVF implantation failures or recurrent pregnancy losses have balanced chromosomal rearrangement. These individuals are phenotypically normal, however may produce genetically imbalanced gametes

Key Genetic testing in reproductive failure:

• Karyotype of the couple must be done in every couple undergoing IVF to identify chromosomal aberrations
• Genetic testing of the conceptus in the case of spontaneous miscarriage should be considered to look for microscopic or submicroscopic chromosomal aberrations. Microarray is the method of choice in such cases
• Advanced genetic testing like exome sequencing or preimplantation genetic screening has limited utility in sub fertility/recurrent implantation failures or recurrent miscarriages and must be discussed with a medical geneticist

KEM Hospital is proud to help raise awareness for thyroid diseases and encourages everyone experiencing symptoms to ask for an evaluation.