The Story of Mr. & Mrs. Harpreet Singh & Kaur from Jalandhar - A Child born using IVF combined with PGS

The couple had several miscarriages before this. Following an inquiry, it was discovered that the foetus's aneuploidies were the cause of the miscarriages. The next IVF cycle's 19 embryos were PGS tested at NeoCare Labs. PGS entails examining a small number of cells from an IVF embryo to see whether the chromosomal count is normal. The best embryos were suggested for transfer in the MedGenome report, and this led to a successful pregnancy and kid. Millions of couples have used the groundbreaking method known as in vitro fertilization (IVF) to fulfill their desire of becoming parents. The couple Mr. and Mrs. Swamy (name changed) was one such pair. They struggled for 12 years and had several IVF cycles before being blessed with a son. Preimplantation Genetic Screening, an advanced genetic screening method, was used in conjunction with IVF to conceive this infant (PGS).  

Mrs. Neha Sharma from Mumbai, Genetic testing can significantly impact a patient's course of therapy and prognosis.

Genetic testing for cardiac channelopathy was essential in determining the precise mutations that determined the treatment plan for a 27-year-old girl who had a history of seizures at the neurological department. "We advised our patient to have molecular testing for an accurate treatment modality," stated Dr. Ahamed, an associate professor of cardiology at the Amrita Institute of Medical Sciences and Research in Mumbai. Her blood sample was sent to Labs for a cardiac channelopathy panel after her family gave their approval. This panel can detect cardiac ion channel alterations that could cause any aberrant fluctuation in the QT interval. The patient was diagnosed with type 2 long QT syndrome based on the results of the genetic panel, which indicated that the patient had a mutation in KCNH2. Seizures, an irregular heartbeat, and a brief loss of consciousness are among the symptoms. Following diagnosis, the patient is scheduled to receive an AICD implantation and was put on beta-blockers.

The Story of Kishan Pal and Pooja: How Carrier Screening Aided Them in Having a Healthy Baby

Both of them were discovered to be carriers of a large mutation in the DBT gene, which is known to cause MSUD, after the parent's genomes were analyzed. Prenatal diagnosis in the form of chorionic villus sample at 12–13 weeks was suggested for their subsequent pregnancy. Since the fetus did not carry the mutations discovered in its parents, it was determined that the fetus was unharmed. By carrying on with the pregnancy, the couple was able to stop a second child from being born with the same condition. Therefore, it was useful to do a carrier screening test for the mutations discovered in the parents in order to prevent such illnesses in subsequent pregnancies.