Online and in-clinic visits for genetic consultations, counselling and testing

Department of Reproductive Genetics

Expert genetic guidance for couples navigating infertility, pregnancy loss, prenatal testing, and hereditary concerns — led by Dr. Roshan Daniel, Clinical Geneticist.

Genetic testing can provide answers when starting a family feels uncertain

INFERTILITY

Genetic Causes of Infertility

When routine fertility investigations are inconclusive, genetics often holds the answer. Chromosomal abnormalities, Y-chromosome microdeletions, and single-gene disorders are among the most common — and overlooked — causes of infertility in both men and women. A genetic evaluation can identify the root cause, guide treatment choices, and improve IVF outcomes.

RELATED COUPLE COUNSELLING

Consanguinity & Related Couple Risk Assessment

In parts of India, marriages between cousins or relatives are culturally common. When couples are related, the risk of their child inheriting a recessive genetic disorder is higher than in the general population. A pre-pregnancy genetic consultation can quantify this risk, identify conditions to screen for, and guide decisions — without judgment, with clarity.

PRENATAL SCREENING

Non-Invasive Prenatal Testing (NIPT)

NIPT analyses small fragments of the baby's DNA circulating in the mother's blood as early as the 10th week of pregnancy. It screens for chromosomal conditions including Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13) with very high accuracy — and without any risk to the pregnancy. A genetics consultation helps interpret NIPT results and decide on next steps.

FETAL SCAN ABNORMALITY

Abnormal Ultrasound Findings in Pregnancy

An anomaly found on a routine pregnancy ultrasound — a structural defect, soft marker, or growth concern — can be deeply worrying. Many such findings have a genetic basis, and a clinical geneticist can help piece together the picture: whether a chromosomal abnormality is likely, what further testing is recommended, and what the finding means for the pregnancy and future pregnancies.

PREVENTION OF A DISEASE THAT RUNS IN FAMILY

Family History of Genetic Conditions & Prevention

If a previous child has a chromosomal condition, a genetic disorder, or a birth defect — or if there is a known hereditary condition in the family — a genetics consultation before your next pregnancy is one of the most valuable steps you can take. We map the genetic basis of the condition, estimate recurrence risk, and walk you through options including preimplantation genetic testing (PGT-M), prenatal diagnosis, and more.

RECURRENT ABORTIONS

Recurrent Miscarriage & Pregnancy Loss

Experiencing more than two miscarriages is not just emotionally devastating — it often signals an underlying genetic cause. Chromosomal imbalances in either partner, or in the pregnancy itself, account for a significant proportion of recurrent losses. Genetic evaluation of the couple and, where possible, the pregnancy tissue, can identify why losses are recurring and what can be done to prevent the next one.

PRE-PREGNANCY PLANNING

Carrier Screening for Genetic Conditions

Carriers of conditions like thalassaemia, sickle cell disease, spinal muscular atrophy (SMA), and cystic fibrosis usually show no symptoms themselves — but can pass the condition on to their children. Carrier screening before or during pregnancy identifies couples at risk, allowing them to explore all available options including IVF with preimplantation genetic testing (PGT).

PRENATAL DIAGNOSIS

Amniocentesis & Chorionic Villus Sampling (CVS)

When prenatal screening tests suggest a concern, or when there is a known genetic risk in the family, amniocentesis or CVS can provide a definitive genetic diagnosis of the pregnancy. These are diagnostic procedures — not just screens — and can detect chromosomal disorders, specific genetic mutations, and more. A genetics consultation is essential before and after the procedure to understand your results in full.

ABNORMAL BIOCHEMICAL SCREENING IN PREGNANCY

Abnormal Maternal Serum Markers

The double marker, triple marker, or quadruple marker tests measure biochemical levels in the mother's blood to screen for chromosomal conditions and neural tube defects. An abnormal result does not confirm a diagnosis — it means the risk is elevated and further evaluation is needed. A genetics consultation puts your results in context, explains what they mean, and guides you toward appropriate next steps.

EMBRYO TESTING

Preimplantation Genetic Testing

PGT tests embryos for genetic problems before IVF transfer, improving the chances of a healthy pregnancy. PGT-Ascreens for chromosomal errors. PGT-M targets known inherited conditions like thalassaemia, SMA, or BRCA mutations. PGT-SR is for parents carrying chromosomal rearrangements. A genetics consultation determines which type is right for you.

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