Precision Medicine
Reproductive Health
Using gene signatures for reproductive health benefits
Why should you opt for genomic testing?

Personome provides genomic testing for reproductive health on three levels. First level is fertility assessment. Second, is pre-conception screening and third level testing is during an ongoing pregnancy. These tests are designed to monitor the health of the parent as well as the unborn child.

The test is non-invasive and the molecular insights gained could make significant changes with respect to current or future pregnancies. Genomic profiling can potentially provide rapid diagnosis, help in identification of therapeutic options and improve clinical outcomes in case of hereditary or genetic diseases.

Personome’s non-invasive reproductive health tests use latest molecular analysis technologies to analyze specific genetic defects associated with multiple conditions with respect to infertility or hereditary genetic conditions. Both the male and female are tested for genes associated with infertility, genetic abnormalities and mutation carrier screening. During pregnancy, the fetus is tested for genetic abnormalities by testing the mother’s blood for fetal DNA.

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 before conception for couples who may be at risk of being carriers for genomic alterations, with risk of transmission to the fetus. The blood sample is collected from the patient and the DNA is screened for 100 / 300 / 3000+ genes.

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

  • 25% risk of having an affected child
  • 50% chance of having a carrier child
  • 25% chance of having an unaffected child and is not a carrier

Non - Invasive Prenatal Screening

Non-Invasive Prenatal Screening involves a simple blood test to screen the baby for the possibility of certain genetic conditions or syndromes. Short fragments of fetal DNA are found circulating in the pregnant mother’s blood, which is used for the screening of chromosomal abnormalities in the baby. Since the procedure is non-invasive, it carries no risk of miscarriage or harm to the unborn child.

Personome enables prenatal genetic screening for presence of chromosomal abnormalities. It can assess the risk of chromosomal abnormalities in any pregnancy. Increased risk for chromosome problems can be identified for

  • Down syndrome (Trisomy 21)
  • Patau syndrome (Trisomy 13)
  • Edwards syndrome (Trisomy 18)
  • Microdeletion syndromes

Recurrent Pregnancy Loss

If a clinically recognized pregnancy terminates involuntarily within 20 weeks, it is known as pregnancy loss. The recurrence of pregnancy loss is an effect of genetic abnormalities in most of the cases. The abnormalities could be linked with the egg or sperm or the early embryo. Genetic information about causes and risk factors for recurrent pregnancy loss can be identified via genetic testing and preventive measures can be planned for future.

Who should opt for this test?

  • Women over 35 years of age
  • Couples who have experienced several spontaneous miscarriages of unknown cause
  • Couples with several cycles of IVF that have not achieved pregnancy
  • Couples with a previous pregnancy with chromosomal abnormality

Male – Infertility

Fertility challenges are likely to affect both the sexes. Thus, fertility testing is necessary not just for the female, but also for the male partner. ‘Male factor infertility’ attributes to around 30% of all infertility cases.

Personome tests males for the epigenetic modifications involved in sperm development, the ability to move, energy production, fertilization and embryo formation. These modifications can represent a potential cause of infertility.

Prior analysis of the sperm’s genetic status also helps in improving ART outcomes by decreasing the risk of birth defects, major malformations, and epigenetic diseases in the offspring.

Pre-implantation Genetic Screening

Pre-implantation Genetic Screening (PGS) is a test performed on embryos during IVF treatment to screen for chromosomal aneuploidies. Change in the chromosome number is largely responsible for pregnancy difficulties and early miscarriage after successful assisted reproductive technology (ART) intervention.

Patient undergoing ART, couples who have experienced several spontaneous miscarriages of unknown cause, couples with several cycles of IVF that have not achieved pregnancy or couples with a previous pregnancy with chromosomal abnormality should undergo pre-implantation genetic screening.

Pre-implantation Genetic Diagnosis

Pre-implantation Genetic Diagnosis (PGD) is a test performed on embryos during IVF (In Vitro Fertilization) treatment for a specific genetic condition and chromosomal abnormality before transferring the embryo to the uterus. Chromosome abnormalities are largely responsible for miscarriage after IVF.

Human cells typically have a total of 46 chromosomes. An embryo may have an incorrect number of chromosomes due to whole and segmental chromosomal deletions and duplications. Embryos with such abnormalities may fail to implant, or result in miscarriage after implantation, or lead to a live birth resulting in physical abnormalities and/or intellectual disabilities in the baby.

PGD can help screen for such conditions and plan such that genetically normal embryos are selected for implantation that have high likelihood of successful pregnancy.

Whole Genome Sequencing

Whole genome sequencing (WGS) determines the complete DNA sequence of human being’s genome (three billion base pairs) at a single time which is us the keys to understanding both disease and overall health. Genome sequencing accelerates the rate of discovery and lowers the cost of sequencing, allowing sophisticated genetic analysis to decode an individual’s genetic profile to improve prevention, diagnosis, and treatment of disease.

In WGS, gene data is generated, analyzed and interpreted using sequencing data from targeted gene panels, exomes and whole genomes. This solution is designed to streamline the interpretation and reporting process so institutions can reduce interpretation time and improve report quality and consistency while continuously expanding their knowledge base.