Medical Genetics


Pre-Implantation Genetic Screening (PGS) involves a process of screening of embryos in the course of In Vitro Fertilization (IVF). This helps to identify abnormalities in the chromosomes occurring due to aneuploidy. The main reason for recurrent IVF failures and in turn pregnancy losses is the higher risk of chromosomal errors that happen at advanced maternal age. It is in this scenario, PGS helps to ascertain the best embryos thereby improving the chances of carrying out healthy pregnancies.


Pre-implantation Genetic Diagnosis (PGD) is a method carried out on embryos created after IVF in which the genetic diagnosis of a known problem is diagnosed in either of the partners. For Example, the balanced translocations/inversions which can be carried by either of the partner. Early pregnancy losses in couples who are suspected carriers is a consequence of these translocations.


A genetic disorder that leads to short-limbed dwarfism. This condition is the resultant of mutation in the FGFR3 gene. Molecular genetic tests conducted include: Mutation scanning of the entire coding region, Deletion/duplication analysis, Targeted variant analysis, Linkage analysis, Mutation and Sequence scanning of select axons etc.


Tay-sach’s is due to a defective gene that cause abnormal metabolism in newborns leading to very early death. A very tell-tale sign of Tay Sach’s is the presence of a cherry red spot in the eye. This is an indication of a lipid storage disease.

Medical Genetics

Genetics concerns the process of trait inheritance from parents to offspring. The birth of a child with genetic disorders is a fear that engulfs every expecting parent especially couples with a previous familial history. At CRAFT, we aim to leave no stone unturned to prevent the birth of an anomalous child. Putting this mission to practice CRAFT has now installed and practicing path-breaking medical techniques to detect Genetic Disorders at the earliest stage possible.

The Genetic lab is headed by Dr. Ritu Nair M.S (U.K). With a Phd in Genetics &Bio-informatics, Dr.Ritu comes with a strong background in Molecular Biology & Bioinformatics and Human Genetics with significant experience as a Chief Geneticist in India and abroad. With Dr.Ritu’s arrival, faculty at CRAFT gets the addition of an expert specialist in field of Human Genetics.

Dr.Ritu says “Here at CRAFT we aim to give services at all stages of pregnancy – Pre implantation, Pre-Natal and Post-Natal stages .This will help early detection of even severe genetic disorders and help prevent the birth of a genetically affected child. Enumerating the advanced treatment elements available at CRAFT:

In the genetics lab CRAFT now has the facility of PGD –Pre-implantation Genetic Diagnosis (PGD). PGD is a test to detect any chromosomal or genetic abnormalities on the embryo, before its transfer into the uterine cavity. It’s a preferred

option compared to medical termination of pregnancy as genetic disorders can be diagnosed prior to implantation. This will hence ensure the birth of a healthy child and good health of the mother.

The doctors say genetic disorders are often indicative via signs such as recurrent IVF failures and recurrent pregnancy loss. Some of the indicative factors are:Advanced maternal age

  • Family history of any genetic disorders such as Spino-muscular dystrophy, Skeletal abnormalities
  • Chromosomal abnormalities such as Mongolism
  • Sex chromosomal related disorders
  • Fragile X syndrome

Couples who have had a previous history of anomalous baby and babies born with metabolic disorders definitely need to go in for the screening to avoid repeated incidents. The facility at CRAFT comes as a god sent blessing for such couples and expecting mothers with any such previous history.

A path breaking concept of SAVIOUR BABIES is now being facilitated at CRAFT.It is a future decisive – past altering new concept of creating a saviour baby for couples who have had a previous child affected with any serious blood related disorders like Thalassemia and Fanconi’s anemia etc.In these cases the saviour baby can be created by combination of IVF and PGD along with HLA matching. This new born baby’s cord blood, stem cells can used to cure the affected elder child.For parents across the world with a previous child with a genetic disorder, this will instill a new lease of life.

CRAFT now facilitates Pre Implantation Genetic Screening (PGS) – In advanced maternal age chances of chromosomal errors are more and consequentially is the main reason for recurrent IVF Failures. Here PGS will identify the best embryos and subsequently will increase chances of healthy pregnancies.This will also increase the success of an IVF attempt.

Exclusive facilities at CRAFT

Aiming global standards our sophisticated Medical genetics unit has fully equipped state of art facilities which ensures disease detection at all levels of pregnancies and at post-natal stage.

Fully fledged Pre- Natal and Post Natal services– Inclusive of Karyotyping on amniotic fluid, chorionic villi, cord blood, Product of Conceptus, Peripheral Blood Screening.

Male Infertility genetic tests like Y-Chromosomal micro deletions, SRY and other related disorders can be detected. Rapid Chromosomal aneuploidies detection at pre-implantation and prenatal level using sophisticated Quantitative Fluorescence real time PCR which is exclusive at CRAFT in India.

Single Gene disorder detection available at Pre-Implantation, Pre Natal and Post Natal stages.

Detection of inborn errors of Metabolism at all three stages of pregnancies.

Endometrial Receptor Assay (ERA)

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 at CRAFT.

Genetic Counseling which is again a service exclusive to CRAFT at two levels

A. Genetic counseling is offered to detect risk estimation in couples and their families, family tree construction, Carrier Risk estimation for couples with a family history of genetic disorders, recurrent abortions, Repeated IVF Failures and abnormal ultrasound findings.

B. Premarital Genetic Counselling exclusively for Sex related genetic diseases.

Encompassing all the issues and comprehensively enabling detection of Genetic Disorders CRAFT has taken a leap forward to ensure happy smiles all around. Genetics is a field where technology advances in absolute terms on a daily basis around the world. By ensuring all the advanced facilities are made available under one roof, CRAFT sets a new example in the Medical field in the determined effort to offer the best to their clients.

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Dr. Ritu Nair

   Chief Geneticist        MSc. MS (UK), PhD

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Medical Genetics

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