Fetal chromosomal abnormalities may be caused by a non-disjunction phenomenon that occurs in the period of meiosis during maternal oogenesis, which has been reported to have a direct association with maternal age. The increasing maternal age has been observed, particularly in the last few years. The studies by Fetal Medicine Foundation (FMF) have examined the association between advanced maternal age and adverse pregnancy outcome, including stillbirth, miscarriage, pre-eclampsia, gestational diabetes mellitus (GDM), gestational hypertension, preterm birth, delivery of a small- (SGA) or large- (LGA) for-gestational-age.
With the increasing advanced stage pregnancies in women, there has been an increasing demand for pre-natal genetic screening and testing as a part of reproductive genetics that help to predict the risk of fetal chromosomal abnormalities depending on age. Further, pre-natal testing became the need of the hour owing to the increasing number of cases of various genetic disorders, such as Down syndrome, spina bifida, cleft palate, sickle cell anemia, thalassemia, fragile X syndrome, and Tay–Sachs disease. All of these conditions are the consequences of the mutant genes and an abnormal chromosomal structure.
Therefore, pre-natal testing prerequisites the patient to be mentally prepared and helps them to make a decision either to continue or to abort the pregnancy. This has also widened the scope of pre-natal testing in the in-vitro fertilization (IVF) market, as the chances of heredity diseases increases in cases where the egg and sperm of donors are used for the fertilization process. The following figure illustrates the rise in the prevalence of congenital abnormalities in last few years creating an urge for reproductive genetic testing globally.
Moreover, preconception carrier screening offered within the reproductive genetic market along with genetic counseling of carriers has resulted in the decline in the incidence of several autosomal recessive disorders, including cystic fibrosis and Tay-Sachs disease (TSD). Formerly, the incidence rate of TSD was 1 per 3600 Ashkenaki births in North America. Additionally, preconception screening has reduced the incidence of TSD by more than 90% in the last 40 years. Although TSD remains incurable, therapies are available for many severe recessive diseases in childhood. Thus, in addition to the prevention of disease, preconception testing could enable perinatal diagnosis, and treatment can diminish the disease severity.
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Technological advancements in the healthcare industry have always played a crucial role in the overall development of the industry. Among the innumerable advancements witnessed by the industry, reproductive genetics has emerged as one of the most distinctive technologies in curbing concerns related to genetic diseases. The recent advancements in the life science industry, such as sequencing technologies, regenerative medicine, and genomic technologies, supported by breakthroughs in the field of genome sequencing, and molecular research, have opened up new and promising pathways to combat genetic diseases and reduce the overall global economic burden.
