I have been trying for years together visiting doctors for having a baby with my history of infertility and recurrent abortions. I came across an article on pre-implantation genetic screening and diagnosis. Preimplantation Genetic Screening (PGS) and PGD can provide peace of mind for women who have experienced repeat pregnancy loss (miscarriage), are of advanced age, or are concerned about their proposed In-Vitro Fertilization (IVF) success rate. PGS helps doctors identify chromosomally normal embryos prior to transfer into the uterus. I researched labs in India offering this service and came across Genestrings Diagnostics Centre(GDC). I visited the lab and was thrilled to learn about the solution to my problem. There was battery of tests they offered before and after conception covering each and every step of my pregnancy. They offered me and my husband Carrier screening to look at our defective genes, PGS screening of our embryos, Endometrial Receptivity Assay to check when is the right time for implantation, NIPT once I conceived to check the status of my foetus. I'm very glad to deal with this clinic. A huge thank you to the GDC team. From the first day I spoke to them, I felt I want to deal with this centre. They listened to me carefully and noted every single bit of my previous miscarriages and health issues. They understood what I'm seeking for and gave me the best solutions.
In 2016, Praful and Priya were blessed with a beautiful daughter, Jhanvi. It was now almost a week since Jhanvi's birth; the family was still celebrating the arrival of their new member. "In one afternoon, we noticed out daughter was not respoding much to our calls, she had not taken her feeds also. She used to sleep for longer hours than usual. As a first-time parents. we thought she might be feeling tired. We never thought of anything serious. Then suddenly one day she showed seizures in the morning and she got unconscious", recalls Praful. On admission to the hospital, it was found that her blood ammonia levels were very high. She was diagnosed to be hypotonic and also her body temperature was very low. She went into coma and could not survive. She was suspected to have a metabolic disorder and was advised genetic testing. However, genetic testing could not be done at that time for Jhanvi. This incident left both parents devastated. Two years after this incident, the couple were advised to go for carrier screening before conception as they had a history of one child born with metabolic disorder. The couple went ahead with couple carrier screening, where hundreds of genes associated with recessive disorders were screened for both. It was observed that the couple were heterozygous carriers for pathogenic varients in CPS1 gene. Pathogenic varients in CPS1 cause a rare and severe disorder of urea cycle metabolism known as carbamoyl-phosphate synthetase I deficiency (CPSDI). CPSDI is characterized by neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death. It is autosomal recessive disorder and every pregnancy has a 25% chance of having an affected baby (as was the case with Jhanvi). Couple were here after advised to undergo prenatal testing for the same gene.
On a sunny day near Noida, two-year-old Khushi stares intently at her left shoulder. With absolute concentration, she raises her head to look at her therapist, who is holding onto Scarlett’s arm to keep her steady. “I'm so proud of you,” I say, and cheers as I film the session with my camera phone. Looking proud herself, Khushi rolls onto her back, stretches out her arms and legs, and smiles broadly. Her smile is infectious. Khushi has poor hearing and vision and hasn't learned to sit up on her own, stand, walk, or speak. And for the first year of her life, we had no idea why. Just after she was born, “I remember my husband saying in the hospital, ‘She doesn’t cry; and I just said, ‘She’s a good baby,” I said. After five months, however, Khushi failed to meet typical milestones, such as making eye contact with her parents. And then the tests began. Full workups on her blood and spinal fluid didn't suggest anything amiss. Neither did a test for large-scale chromosomal abnormalities. A viral screen revealed that she had been exposed to cytomegalovirus, a known cause of brain damage when contracted during development. But a blood sample from Khushi’s newborn screens showed she was clear of the virus at birth. Months passed, and more tests came back negative. Finally, I came across information about Genestrings Diagnostics Centre New Delhi that was offering to sequence and analyze the genomes of patients with undiagnosed diseases. Just after Khushi's first birthday, we sent blood samples to GDC, where scientists sequenced each family member's exome—the 1.5 percent of the genome that encodes proteins. And then a verdict emerged: Khushi had a rare mutation in the gene encoding G protein subunit beta 1 (GNB1), a component of a molecular switch protein complex known to regulate some neuronal functions. A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Khushi had not inherited the mutation from us, and that the disease will most likely spare her heart and lungs, giving us a huge peace of mind. Exome sequencing has really been revealing and GDC is doing a great job in using the approach to help diagnose rare diseases, and to end what Clinicians call the “diagnostic odyssey” for hundreds of families every year.