Clinical Genetics is a medical specialty that provides diagnostic services and genetic counseling to individuals or families affected by, or at risk of, genetic conditions. These disorders can affect any body system and may be present at any stage of life.
The goal of genetic services is to support those impacted by genetic conditions in living healthy lives and making informed reproductive decisions.
Our genetic evaluations cover a wide range of inherited and chromosomal conditions, including:
Different genetic tests are used depending on whether a chromosome, a protein (gene product), or DNA itself is suspected to be affected.
Every parent hopes for a healthy child. Thanks to advances in medical science, we no longer have to wait until birth to understand a baby’s genetic health. Many conditions can now be screened or diagnosed during pregnancy — one of the most common being Down Syndrome. Down Syndrome is the most frequently occurring chromosomal abnormality in humans. It is caused by an extra copy of chromosome 21, which can lead to developmental and intellectual challenges. All pregnancies — regardless of maternal age or previous pregnancy outcomes — should be screened for Down Syndrome. A combined test at around 12 weeks, which includes a double marker blood test and an aneuploidy ultrasound scan, helps assess whether the fetus is at high or low risk for Down Syndrome. If a woman presents later in pregnancy (16 to 20 weeks), the quadruple test is recommended. (Note: The older triple test is now obsolete.) Advanced options like NIPT (Non-Invasive Prenatal Testing) are available from 10 weeks of gestation. Though slightly more expensive, NIPT offers higher sensitivity. In high-risk cases, a definitive diagnosis can be obtained through procedures like Chorionic Villus Sampling (CVS) or Amniocentesis. Please note: No test can guarantee the absence of all physical or intellectual conditions in a baby.
Approximately 5% of women experience two consecutive miscarriages, while 1% face three or more pregnancy losses. These losses may result from various factors, one of which is an underlying genetic abnormality — either in one of the parents or the fetus. Couples experiencing recurrent pregnancy loss should consider undergoing a genetic evaluation through a simple blood test. This test helps detect chromosomal abnormalities that may be contributing to the miscarriages. Whenever possible, the aborted fetal tissue should also be examined for genetic defects. At IHR, we offer Next Generation Sequencing (NGS) for this purpose, which provides much more comprehensive information than conventional methods such as karyotyping or FISH (Fluorescence In Situ Hybridization). If a specific genetic defect is identified, the couple may benefit from Pre-implantation Genetic Testing (PGT) during IVF treatment, which helps in selecting healthy embryos for implantation.
Every couple hopes for a physically and mentally healthy child. While any pregnancy carries a background risk of 3–5% for potential health issues, certain genetic disorders can significantly increase this risk, especially if they are inherited. In families with a history of genetic diseases—such as Thalassemia, Cystic Fibrosis, Sickle Cell Anaemia, Albinism, Polycystic Kidney Disease, Wilson Disease, or Haemophilia (as historically seen in the royal family of the UK)—the likelihood of passing the condition to the next generation is much higher. Thanks to advancements in medical genetics, it is now possible to identify disease-causing genes through targeted testing. With the help of Pre-implantation Genetic Testing (PGT) during IVF, only genetically healthy embryos can be selected for transfer, thereby reducing the risk of inherited disorders. Ideally, couples with a family history of genetic conditions should undergo evaluation before planning a pregnancy, as identifying the relevant gene can be complex and time-consuming. However, if the gene is already known, Prenatal Diagnosis (PND) during pregnancy can also be considered to assess the health of the fetus.
Azoospermia and Oligozoospermia
Recurrent IVF Failure
Elderly Females & Low Ovarian Reserve
However, please note: Some women may not develop any blastocysts, or all embryos may be genetically abnormal.
Genetic counseling helps individuals understand their risk of inherited conditions, the implications for family planning, and the options available for testing and management.
Individuals with a personal or family history of genetic disorders, couples with infertility or recurrent miscarriages, and expectant parents seeking prenatal screening should consider genetic testing.
Non-invasive tests like NIPT are safe and pose no risk to the fetus. Invasive procedures like CVS and amniocentesis carry minimal risks and are performed when necessary under expert supervision.
While some genetic conditions can be managed or treated, others may not have a cure. Early diagnosis allows for better management and informed decision-making.
PGT is a procedure used during IVF to test embryos for specific genetic conditions before implantation, helping to prevent the transmission of inherited disorders.
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