Infertility is considered a major public health issue, as a major chunk of the population suffer from infertility during their reproductive lifespans. Thanks to genetic testing which is becoming increasingly important with respect to reproductive medicine. Genetic tests are required to identify the cause of male and/or female infertility, to analyze if the fetus is carrying any inherited diseases and also to plan antenatal testing. Genetic testing further provides a direction toward the most appropriate reproductive techniques that need to be used.

The reproductive genetic testing not only includes prenatal screening and diagnosis but also involves preconception genetic testing, preimplantation genetic diagnosis, time of implantation assay etc.

Sperm DNA Fragmentation

The genetic integrity of the sperm is essential for successful fertilization and normal embryo development and abnormality in the genetic integrity may lead to male infertility and IVF failure. In sperm DNA fragmentation test, the sperm DNA is analyzed for abnormality in terms of DNA Fragmentation Index (DFI), and is not otherwise detected by conventional sperm examinations. Men with normal sperm parameters may also have high sperm DNA fragmentation. High sperm DNA fragmentation affects subsequent blastocyst development and increases chances of ART failure and miscarriage. The test detects the DNA damage in each sperm and reported the integrity of the sperm DNA.

DNA Methylation for Male Infertility

It is estimated that 1 in 20 men is affected by infertility most of which show “unexplained infertility”. The cause of unexplained infertility lies in genetic makeup, precisely epigenetic mechanisms that contribute to sperm quality. Epigenetics is the study of changes in gene activity that are not caused by changes in DNA sequence. Epigenetic modifications could affect gametogenesis (process of gamete formation) as well as the embryo development, thus representing a potential cause of infertility. Epigenetic modifications do not induce alterations in the gene sequence or gene copy number, therefore could be the cause of male infertility in which no genetic abnormalities are detected using the conventional techniques of genetic analysis. DNA methylation is an epigenetic mechanism that allows cells to control the expression of genes. Abnormal gene expression may be associated with infertility. Epigenetic modifications from the father’s genome can be transmitted to the offspring, that may result either in rare congenital diseases or increased susceptibility to common diseases during lifetime, that are not in the father himself. Prior analysis of sperms genetic status helps in improving ART outcomes by decreasing the risk of birth defects, major malformations, and epigenetic diseases in the offspring.

Pre-implantation Genetic Screening/Diagnosis

Pre-implantation Genetic Screening (PGS) and Pre-implantation Genetic Diagnosis (PGD) are the genetic investigation techniques performed prior to embryo implantation for analyzing the genetic makeup of embryos created through IVF. In PGS chromosomal aneuploidies are screened while in PGD single gene disorders are detected. The genetic abnormalities are largely responsible for pregnancy difficulties and early miscarriage after successful ART intervention. This helps to increase the chances of successful pregnancy outcome by selecting genetically suitable embryo for implantation.

Recurrent Pregnancy Loss

As per the American Society of Reproductive Medicine (ASRM), when there is an involuntary end to two or more clinically recognized pregnancies, it is known to be RPL or recurrent miscarriage. Approximately 15% of all clinically recognized pregnancies result in spontaneous loss. Only 30% of all conceptions result in a live birth. Risk of miscarriage increases with the number of previous pregnancy losses. Advancing maternal age is associated with increased risk of miscarriage. Recurrent Pregnancy Loss test screens and analyzes possible underlying causes for recurrent miscarriages and assists clinicians to decide future course of action.

Time of Implantation Assay

Time of Implantation Assay is a molecular genomic tool that evaluates endometrial receptivity during window of Implantation to determine time frame for embryo transfer. It is an informatic predictor that analyzes the gene expression data and classifies the endometrium as “Receptive" or "Non-Receptive”. Messenger RNA (mRNA) is isolated from the sample followed by quality assessment of the extracted mRNA. Good quality mRNA is sequenced to analyze the expression of 500+ genes. The data obtained is measured and the phase of the endometrial cycle is determined by the computational predictor tool.

Y Chromosome Microdeletion Screening

Y chromosome is made up of nearly 60 million base pairs of DNA. It contains multiple genes necessary for normal sperm production. The specific location of the deletion along the Y chromosome and its size influences its effect on spermatogenesis. Y chromosome microdeletion (YCM) is a common cause of spermatogenic failure. Y chromosome controls testicular development and sperm production. YCM is detected in 15- 20 % men with Idiopathic azoospermia, 7-10% men with idiopathic oligozoopsermia. Our Y chromosome Microdeletion test detects microdeletions in critical regions Y chromosome responsible for normal sperm production.

Carrier Screening

Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases. It is generally done by maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Carrier screening should be done in order to get information about the risk of having a child with a genetic condition. Individuals can be carriers of certain genetic conditions even if they do not have anybody in their family with the condition. If both partners are found to be carriers then there is
1. 25% risk of having an affected child
2. 50% chance of having a carrier child
3. 25% chance of having an unaffected child and is not a carrier
Our screening test covers around 100/300/3000+ genes corresponding to unique conditions.