Advanced research and latest technology is now at your service in the form of Medical Genetics. This is the advanced field of study into Human DNA, Genes and Genomes. This is very beneficial for cases of unexplained infertility as it helps your doctor find the answers to what might be causing trouble in successful conception and healthy delivery of a baby.
This is the prenatal genetic testing of fetal chromosomal aneuploidies from Mother’s Blood. We have the credit of being the first centre in Indian subcontinent to develop in-house Non-Invasive Prenatal Testing (NIPT) which is 99.9% sensitive to determine the chromosome mapping.
Noninvasive prenatal testing- uses cell free fetal DNA from the plasma of pregnant women, offering tremendous potential as a screening tool for fetal chromosomal abnormalities. It is a simple blood test which requires blood from the expectant mother and studies the fetal DNA chromosomes for abnormalities like Down's Syndrome, Edward's Syndrome, Patau Syndrome and complete chromosomal mapping including micro deletions.
Unlike amniocentesis (invasive procedure), NIPT carries no risk of miscarriages. Screening for fetal chromosomal abnormalities during pregnancy is an essential part of obstetrical care to reduce the burden of diseases. NIPT is a safe screening test which can be offered to all pregnant women and is not limited to the above indications.
Complete 23 pair chromosome screening with microdeletions
99.9%sensitive . Much better than any other biochemical screening methods
Is more sensitive for screening twin pregnancies
Vanishing twin with live twin can also be differentiated
Fetal Fraction can also be reported
Non-invasive, Accurate & Risk free procedure
Early Diagnosis of chromosomal abnormalities (genetic disorders)
Avoids invasive procedures like CVS and Amniocentesis to a great extent
Highly sensitive in vanishing twins and ongoing twins
Reduces anxiety as the test is done as early as the 1st Target Scan
Indications for NIPT:
Advanced maternal age,
Previous history of any major anomalous child
Any USG findings
1st trimester screening positive
Pre-Implantation Genetic Diagnosis (PGD)
PGD for Chromosomal Translocations:
Preimplantation Genetic Diagnosis (PGD) – is done on embryos created after IVF wherein the genetic diagnosis of known problem has been diagnosed in either of the partner. For example: balanced translocations /inversions.
Either of the partner can be a carrier of any balanced translocation or inversion .These translocations account for the early pregnancy losses in many couples who are suspected carriers.
In about 5% of couples with more than one miscarriage, one person is found to have a balanced chromosomal rearrangement. Carriers of balanced chromosomal rearrangements are usually perfectly healthy and unaware that they have a balanced chromosomal rearrangement. However, more than 70% of pregnancies in couples where at least one parent carries a balanced chromosomal rearrangement will result in miscarriage while up to 10% may result in a chromosomally abnormal live birth. This is due to a resulting unbalanced chromosomal rearrangement developing in the embryos. Balanced chromosomal rearrangements can easily be identified in the couple through a simple test called karyotyping . A Robertsonian translocation is a rare form of chromosomal rearrangement that occurs in five chromosomes pairs known as acrocentric, namely chromosomes 13, 14, 15, 21 and 22.
A balanced chromosomal rearrangement is when all of the genetic information is present in the correct amount but it is in the wrong location or in a different order. Chromosomal rearrangements may occur during egg, sperm or embryo development. Balanced chromosomal rearrangements exist as either translocations or inversions.
Pre-Implantation Genetic Diagnosis (PGD) for single gene disorders :
We have the credibility of testing single gene disorders on embryos for the first time in INDIA through our association with Argenomics; the Medical Genetics wing of CRAFT Fertility Centre. We have dealt with many autosomal recessive conditions, autosomal dominant and X linked disorders.
Single gene disorder is genetic abnormality condition wherein both parents can be carriers of a faulty gene, or at times one of the parent can be a carrier and can pass the faulty gene to their offspring.
Genetic diseases differ in their modes of inheritance – we can help you prevent the passing on of the condition to your children regardless of inheritance mode.
Single gene disorders are relatively common. Examples of single gene disorders include:
Sickle Cell Anaemia
Spinal Muscular Atrophy
Inborn errors of metabolism
Pre-Implantation Genetic Screening (PGS)
24 chromosome PGS
Pre-Implantation Genetic Screening (PGS) allows for the screening of embryos during In Vitro Fertilisation (IVF) in order to identify abnormalities in the chromosomes caused by aneuploidy. At advanced maternal age, chances of chromosomal errors are more and consequentially this is the main reason for recurrent IVF Failures and recurrent pregnancy losses. This is where PGS helps to identify the best embryos and subsequently increases the chances of healthy pregnancies. This also increases the success of an IVF attempt. It’s a preferred option compared to medical termination of pregnancy as genetic disorders can be diagnosed prior to implantation. This ensures the birth of a healthy child and good health of the mother.
5 chromosome PGS
The five most common chromosomal aneuploidies namely 13, 18, 21 , X and Y which are both causes of early first trimester miscarriages and Very much compatible with human life are very important to be screened . This 5-chromosome FISH analysis screens chromosomes 13, 18 and 21, and the sex chromosomes, X and Y, reducing the chances of transferring an embryo with a chromosomal abnormality caused by aneuploidy .
5-chromosome embryo screening is most often recommended for couples with:
Concern for, or previous pregnancy with, a Trisomy: In cases of a previous pregnancy involving Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) or Patau syndrome (Trisomy 13) or if the couple is concerned about a pregnancy with a Trisomy.
Studies show that PGS may be most beneficial for couples meeting one of the following criteria
Advanced maternal age
Previous IVF/ICSI Failures or Recurrent implantation failures
Chromosomal abnormalities such as Mongolism
Sex chromosomal related disorders
Fragile X syndrome
Male infertility related conditions
How does PGS work?
Advantages of getting PGS testing done at ARGENOMICS
Provides a full embryonic Karyotype with all the 23 pair screening. Argenomics pioneers new test (Mitocount) to help select embryos which are more likely to result in viable pregnancies through In Vitro Fertilization (IVF)
Endometrial Receptivity Gene Array (ERGA)
One of the reasons for recurring pregnancy loss as well as recurring IVF failures is a disorder in the endometrium which is mainly related to abnormal gene expressions. Detection and correction of this error is now possible by ERGA. With our set up to perform ERGA, we check the up-regulation and down-regulation of major genes involved in endometrial window of implantation. It is a personalized embryo transfer procedure, which gives an optimal window of implantation to avoid IVF Failures.
ERGA test facilated by next gen sequencing which screen more than 1000 genes involved in implantation.
Nature of Sample: Progesterone + 5 Days Endometrial Sampling via Pipelle Biopsy.
Tissue should be immediately put into RNA stabilizing solution provided by ARGenomics.