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Freda Mom & Baby
Description
Genomics is the comprehensive study of genomes, including the structure, function, evolution, and mapping of an organism’s complete set of DNA. It involves analyzing gene interactions, variations, and their roles in health and disease, aiming to advance personalized medicine, genetic research, and our understanding of complex biological systems.
Reproductive genetics is a specialized field that offers genetic counseling and testing to individuals and couples, helping assess the risk of inherited conditions that could affect fertility, pregnancy, or the health of a child. Services include screening for chromosomal abnormalities, genetic disorders, and inherited conditions, enabling informed decisions regarding family planning and reproductive health. Reproductive geneticists guide couples through the process of understanding their genetic makeup, managing risks, and exploring options like preconception care, prenatal testing, or assisted reproductive technologies. The goal is to provide personalized support for healthier pregnancies, reduce the risk of genetic conditions, and ensure optimal outcomes for families.
Prenatal Screening
Prenatal screening is offered to expectant parents to assess the likelihood that their unborn baby may have certain genetic disorders. This screening evaluates the risk of chromosomal abnormalities, aneuploidies, and other genetic conditions. In many developed countries, it is standard practice to provide personalized risk assessments for fetal aneuploidies during pregnancy.
Prenatal Screening Tests – Clinical Information
Prenatal screening tests are known to have varying levels of sensitivity for detecting chromosomal abnormalities in both first and second trimester screening programs. These tests can assess risks for conditions such as Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13, as well as pregnancy complications like preeclampsia and other adverse outcomes.
Down syndrome (Trisomy 21) is the most common significant chromosomal abnormality, and prenatal screening primarily focuses on detecting this condition. For women identified as high risk for any prenatal disorders based on screening results, follow-up options may include additional counseling, further testing, and appropriate obstetric care.
Down syndrome (Trisomy 21) is the most common significant chromosomal abnormality, and prenatal screening primarily focuses on detecting this condition. For women identified as high risk for any prenatal disorders based on screening results, follow-up options may include additional counseling, further testing, and appropriate obstetric care.
Prenatal Screening - FAQs
Prenatal screening is advanced genetic screenings conducted on pregnant woman’s blood samples (maternal) that can help identify women whose pregnancies have a high risk of carrying an unborn child with some common chromosomal abnormalities. Screening is the first step & this identification helps determine the further course of action for doctors as well as the prospective parents.
Chromosomal abnormalities like Down syndrome, Edward’s syndrome and Patau syndrome are screened in prenatal screening. Besides these abnormalities prenatal screening also gives risks for certain non-chromosomal abnormalities like Pregnancy induced hypertension (Pre-eclampsia) & Open Neural Tube Defects.
Prenatal screening reveals a risk assessment which could be High risk (>1:250), Intermediate risk (1:250 to 1:1000) or Low risk (<1:1000) depending on the different parameters of analysis.
If a prenatal screening result comes back as high risk, the second step is to go for what are known as Confirmatory Tests after consulting with your doctor & prenatal genetic counselor. Confirmatory prenatal diagnosis involves analysis of amniocytes or chorionic villus to determine whether the fetus is affected with the chromosomal abnormality or not. Hence, it is important to offer conclusive diagnosis through amniocentesis or chorionic villus if the risk is high. These tests confirm if the fetus is indeed affected by a genetic abnormality which is reflected in previous prenatal screening test. No clinical decisions should be solely based on any screening results unless the diagnosis has been ascertained.
Intermediate risk report implies that due to some parameters, the pregnancy can not be identified as a clear low risk or high risk for having either of the most common chromosomal aneuploidies screened by the test. Further tests like Non-Invasive Prenatal Screening (InsighT/ InsighT-Adv/ InsighT Plus) or Integrated quadruple screening (done in the second trimester) or invasive procedure (like amniocentesis or CVS) followed by definitive tests or specialized sonography scan is recommended. Clinical geneticist certified genetic counselor, or your doctor can help you understand these personalized results and their implications in detail.No clinical decisions should be solely based on any screening results unless the diagnosis has been ascertained.
Every pregnant woman should opt for a prenatal screening during her pregnancy, in order to give her personalized pregnancy risk and to make a decision whether she needs to undergo a diagnostic test to rule out randomly occurring common chromosomal abnormalities.Since genetic diseases can either be passed on from a parent to child (in any pregnancy) or occur spontaneously during conception without any previous family history. Thus, it is recommended by various International Medical & Gynecological societies that prenatal screenings should be offered to all pregnant women.
Prenatal screening first and foremost gives expecting parent’s Peace of Mind by providing information of the health of their child much in advance.Secondly & more importantly, because not all genetic disorders are treatable, screenings give parents the choice & freedom to make informed decisions in their pregnancy & the future of their loved ones. Also, opting for a Prenatal Screening will enable you to decide for or against an invasive confirmatory test.
Clinical Information – NIPT Test
The NIPT and Advanced NIPT tests utilize the world’s most advanced and patented NIPS technology—TACS (Target Capture Enrichment) technology. Developed by NIPD Genetics (Cyprus) and now available in India through Orbitoasia Diagnostics, this cutting-edge technology is trusted by millions of pregnant women and thousands of clinicians worldwide for its exceptional precision and accuracy.
TACS technology addresses the limitations of older NIPS technologies commonly used in India, offering superior performance. Both tests have undergone rigorous clinical validation for the conditions they assess, ensuring reliable and clinically accurate results. As a result, they are preferred by leading medical professionals across the country to provide trustworthy insights in critical situations.
TACS technology addresses the limitations of older NIPS technologies commonly used in India, offering superior performance. Both tests have undergone rigorous clinical validation for the conditions they assess, ensuring reliable and clinically accurate results. As a result, they are preferred by leading medical professionals across the country to provide trustworthy insights in critical situations.
We have tailored our tests to best fit your pregnancy needs.
Advanced Non-invasive prenatal testing |
Non-invasive prenatal testing | ||||
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Genetic Condition Screened
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Singleton Pregnancy
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Twin/ Vanished twin Pregnancy
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Singleton Pregnancy
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Twin/ Vanished twin Pregnancy
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Common Aneuploidies
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Down syndrome (T21)
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Edwards’ syndrome (T18)
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Patau syndrome (T13)
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SCAs
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5 types of sex chromosomes aneuploidies* (SCAs)
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Microdeletions
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DiGeorge syndrome
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Smith-Magenis syndrome
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Wolf-Hirschhorn syndrome
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1p36 deletion syndrome
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*Sex chromosome aneuploidies cannot be screened in twin and vanished twin pregnancies.
# Only Twin & vanishing-twin pregnancies with donor egg are not eligible for InsighT-Adv & InsighT tests.
Note: Sex of the fetus is not determined/ reported by Lilac Insights as per PC-PNDT Act, 2003
# Only Twin & vanishing-twin pregnancies with donor egg are not eligible for InsighT-Adv & InsighT tests.
Note: Sex of the fetus is not determined/ reported by Lilac Insights as per PC-PNDT Act, 2003
NIPT - FAQs
These are advanced prenatal screening tests exclusively offered by Lilac Insights using advanced and patented TACS technology. The test is conducted on pregnant woman’s blood sample whose pregnancy maybe at a high risk of carrying a fetus with most common genetic abnormalities. These tests are screening tests for common chromosomal disorders with an accuracy/detection rate (>99%) for Trisomy 21, Trisomy 18 and Trisomy 13, Sex Chromosome Aneuploidies (SCAs) and selected Microdeletion disorders.
Non Invasive Prenatal Screening Tests give expecting parents Peace of Mind by providing early and accurate information about the health of their unborn baby with respect to chromosomal abnormalities in advance.
Both these tests can be performed in IVF pregnancies and twin pregnancies. Only IVF twin or vanished twin pregnancies with donor egg are not eligible for these tests.
There is no risk associated with NIPS testing for fetus or mother, as the test is performed on mother’s regular blood sample.*A minor redness or swelling can appear at the spot of blood collection in rare case which can be managed easily.
Normally one screening test is all that is required. In few cases, especially for patients with high risk/ intermediate risk results from biochemical screening, your doctor may suggest you to undergo NIPS as a follow-up reassuring test before opting an invasive confirmatory Test.
Blood Karyotyping
In humans, each cell typically contains 23 pairs of chromosomes, for a total of 46. One set of 23 chromosomes is inherited from each parent. Of these, 22 pairs are autosomes, which are the same in both males and females. The 23rd pair consists of the sex chromosomes, which differ between the sexes: females have two X chromosomes, while males have one X and one Y chromosome.
Karyotyping is the process used to examine and identify these chromosomes, looking for any major chromosomal abnormalities such as imbalances, structural rearrangements, or extra/reduced copies of chromosomes. Balanced chromosomal rearrangements, which may not cause any noticeable issues in the individual, can lead to problems in offspring if the rearrangements become unbalanced, resulting in genetic disorders or other abnormalities. The presence of extra or missing chromosomes can also cause structural abnormalities in individuals who carry them.
Blood karyotyping is particularly useful in diagnosing individuals with intellectual disabilities or distinctive physical features, helping to identify the underlying genetic cause of the abnormalities. This analysis can also provide important insights into the prognosis and management of the condition. Additionally, identifying balanced chromosomal rearrangements in parents can help assess the risk of miscarriages in future pregnancies and determine the recurrence risk of genetic conditions in subsequent children.
Karyotyping is the process used to examine and identify these chromosomes, looking for any major chromosomal abnormalities such as imbalances, structural rearrangements, or extra/reduced copies of chromosomes. Balanced chromosomal rearrangements, which may not cause any noticeable issues in the individual, can lead to problems in offspring if the rearrangements become unbalanced, resulting in genetic disorders or other abnormalities. The presence of extra or missing chromosomes can also cause structural abnormalities in individuals who carry them.
Blood karyotyping is particularly useful in diagnosing individuals with intellectual disabilities or distinctive physical features, helping to identify the underlying genetic cause of the abnormalities. This analysis can also provide important insights into the prognosis and management of the condition. Additionally, identifying balanced chromosomal rearrangements in parents can help assess the risk of miscarriages in future pregnancies and determine the recurrence risk of genetic conditions in subsequent children.
Blood Karyotyping – Clinical Information
It can help identify the cause in
- Couples with recurrent pregnancy loss
- Children with dysmorphic facial features
- Children with congenital heart defects
- Children with intellectual disability and/or global developmental delay
Chromosomal Microarray
Chromosomal microarray testing is a powerful diagnostic tool that can detect chromosomal abnormalities, including aneuploidies (changes in the number of chromosomes) and structural changes (such as deletions—missing pieces or duplications—extra pieces) in one or more chromosomes. This test can be used to analyze samples from a fetus, aborted fetus*, newborn, or any affected individual. Deletions or duplications in chromosomes can lead to serious health issues, including:
- Recurrent pregnancy loss or miscarriages
- Sudden infant death
- Birth defects, such as heart defects, cleft lip/palate, or neural tube defects
- Developmental delays, autism spectrum disorders, intellectual disabilities, and other neurodevelopmental disorder.
*Note: Testing on aborted fetal tissue may be subject to ethical and legal considerations based on jurisdiction.
OrbitoAsia offers several
key advantages to both doctors and patients, including:
- A team of multidisciplinary scientific advisors who provide comprehensive, holistic solutions. Clear, easy-to-understand reports, along with ongoing support to ensure all clinician and patient queries are thoroughly addressed.
- Post-test genetic counseling to help clinicians and patients better understand the implications of any abnormalities detected and explore potential management options.
- Conclusive reports with Maternal Cell Contamination (MCC) testing for all prenatal samples, ensuring accurate differentiation between maternal and fetal blood or tissue. Nationwide service availability, with support in multiple regional languages.
*Note: As per the guidelines of the PCPNDT Act of India, the sex of the fetus is not reported by this test.
Chromosomal Microarray – Clinical Information
Chromosomal Microarray is widely accepted as a reliable and a comprehensive solution to detect genetic imbalances in Prenatal and Postnatal applications.
Clinical Cytogenetics
Cytogenetics is the study of chromosomal abnormalities by examining chromosomes under a microscope.
During chromosomal analysis, the 46 chromosomes are arranged into pairs based on their physical characteristics, such as the location of the centromere and banding patterns. By pairing the chromosomes, any differences between the homologues can be identified, which helps detect chromosomal aberrations.
Every pregnancy carries a small risk of having a chromosomal or genetic condition. The primary goal of prenatal screening is to offer a safe and accessible test to all expectant women, identifying those at higher risk of having a baby with a chromosomal or genetic disorder. These women are then followed up with additional diagnostic testing and genetic counseling. To definitively confirm a genetic or chromosomal disorder during pregnancy, invasive tests such as amniocentesis or chorionic villus sampling (CVS) are required.
During chromosomal analysis, the 46 chromosomes are arranged into pairs based on their physical characteristics, such as the location of the centromere and banding patterns. By pairing the chromosomes, any differences between the homologues can be identified, which helps detect chromosomal aberrations.
Every pregnancy carries a small risk of having a chromosomal or genetic condition. The primary goal of prenatal screening is to offer a safe and accessible test to all expectant women, identifying those at higher risk of having a baby with a chromosomal or genetic disorder. These women are then followed up with additional diagnostic testing and genetic counseling. To definitively confirm a genetic or chromosomal disorder during pregnancy, invasive tests such as amniocentesis or chorionic villus sampling (CVS) are required.
Clinical Cytogenetics – Clinical Information
Conventional Cytogenetics
(Chromosomal Analysis / Karyotyping)
Test Description: This test allows to confirm if the patient has any form of chromosomal variation using sample type amniotic fluid (AF), chorionic villi, or peripheral/ venous blood.
Molecular Cytogenetics (FISH – Fluorescence insitu hybridization)
Test Description: This test allows to confirm if the patient has any form of chromosomal variation using sample type amniotic fluid (AF), chorionic villi, or peripheral/ venous blood.
Molecular Cytogenetics (FISH – Fluorescence insitu hybridization)
Aneuploidies
Test Description: This test allows for rapid screening of chromosomal aneuploidies for five major chromosomes -chromosome 13, 18, 21 and sex chromosomes.Fluorescence Based Assays
- FISH Aneuploidy Detection – Uncultured AF/CVS
- FISH Aneuploidy Detection – Cultured
- AF/CVS/Peripheral and Cord Blood
Microdeletions
Test Description: This test allows to confirm the deletions which are unable to detect using conventional karyotyping.
- Prader-Willi / Angelman syndrome (15q11)
- DiGeorge / VCFS syndrome (22q11 / 10p14)
- Wolf–Hirschhorn syndrome (WHS) (4p-)
- Cri-du-chat syndrome (5p-)
- Williams syndrome (7q11.23)
- Miller – Dieker (MDS) syndrome (17p13.3)
- Smith – Magenis (SMS) syndrome (17p11.2)
*All protocols are based on ACMG (American College of Medical Genetics
2010) and reported as per ISCN (International Society for Cytogenetics Nomenclature 2013)
Molecular Genetics
The human genome is composed of DNA, the hereditary material that carries genetic information. Human DNA contains approximately 3 billion base pairs, with more than 99 percent of these bases being identical across all individuals. The sequence of these bases carries the instructions necessary for building and maintaining the body, much like how the arrangement of letters in words and sentences conveys meaning.
Molecular genetic testing focuses on identifying variations at the nucleotide level, such as point mutations, deletions, insertions, copy number variations, methylation defects, and triplet repeat expansions.
These mutations can be inherited in various patterns, and molecular genetic testing helps diagnose genetic disorders. The results of these tests assist clinicians in making informed decisions about treatment and management. Additionally, the tests reveal the inheritance patterns of the disorder, which is crucial for determining the recurrence risk in future pregnancies.
Molecular genetic testing focuses on identifying variations at the nucleotide level, such as point mutations, deletions, insertions, copy number variations, methylation defects, and triplet repeat expansions.
These mutations can be inherited in various patterns, and molecular genetic testing helps diagnose genetic disorders. The results of these tests assist clinicians in making informed decisions about treatment and management. Additionally, the tests reveal the inheritance patterns of the disorder, which is crucial for determining the recurrence risk in future pregnancies.
Molecular Genetics – Clinical Information
This testing helps identify:
- Single-gene defects, such as Beta Thalassemia, which is prevalent in the Indian population.
- Copy number variations, as seen in conditions like Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy.
- Methylation changes that lead to imprinting disorders, such as Prader-Willi Syndrome and Angelman Syndrome.
- Triplet repeat expansions, associated with conditions like Huntington’s Disease and Fragile X Syndrome.
Thalassemia Screening
Thalassemia screening is a process used to detect various hemoglobinopathies, which are disorders that impact the function of hemoglobin in the blood. The screening helps determine if an individual (particularly a potential parent) is affected by Thalassemia or is a carrier of the condition. Hemoglobinopathies include Alpha, Beta, and Delta Thalassemia, as well as Hemoglobin E, Hemoglobin D, Sickle Cell Anemia, and Hereditary Persistence of Fetal Hemoglobin (HPFH).
Thalassemia Screening – Clinical Information
Thalassemia carrier screening is one of the most effective methods to help ensure that your child is not affected by Thalassemia, a serious and lifelong blood disorder. In severe cases, Thalassemia can be fatal, making early screening and diagnosis crucial for reducing the risk and preventing its occurrence.
Thalassemia Screening - FAQs
It is a type of hemoglobinopathy, a blood disorder in which the production of hemoglobin reduces. Due to the reduced hemoglobin levels in the blood, there is a reduced oxygen supply to the body.
Thalassemia Screening is an advanced genetic test conducted on normal blood samples that help to evaluate whether a potential parent or an individual is a carrier of the Thalassemia gene or is affected by the disorder. The screening checks for various hemoglobinopathies like Alpha, Beta, Delta-beta Thalassemia, HbE, HbD, Sickle cell disease, Hereditary Persistence of Fetal Hemogloin (HPFH).
Screening is the first step & this identification helps determine the further course of action for doctors as well as the prospective parents. Statistically speaking there is a 3-4% chance of fetuses suffering from genetic conditions.
- Alpha Thalassemia
- Beta Thalassemia
- Delta-beta Thalassemia
- HbE and HbD
- Sickle cell anemia
A patient should not have a history of blood transfusion as Thalassemia screening results are invalid if an individual has undergone blood transfusion. Apart from that, there is no requirement.For prospective parents who have tested positive for Thalassemia carriers, the only requirement is pregnancy. Only after a pregnancy can doctors perform additional confirmatory tests to check if the fetus is also affected or the baby is normal.
Regular blood drawn from the veins also called peripheral blood.
There is currently no cure for Thalassemia, however, there are some therapies available which include:
- Blood Transfusions
- Iron-chelates
- Bone marrow transplantation.
- Gene therapy
Thalassemia can be prevented by preconception or prenatal screening for Thalassemia. If parents are found to be carriers for Thalassemia, genetic study for the fetus can be done to find out if the fetus is normal, a carrier like the parents or is affected with Thalassemia.
Next Generation Sequencing
Next Generation Sequencing (NGS) is a highly advanced sequencing technology that enables the rapid sequencing of DNA and RNA, making it ideal for comprehensive genomic and molecular genetic studies. Often referred to as modern sequencing technology, NGS provides detailed insights into complex genomic variations in affected individuals.
OrbitoAsia Diagnostics
extensively utilizes Next Generation Sequencing (NGS) technology for advanced analysis of complex genetic conditions due to its numerous advantages:
- Accessibility: NGS is readily available for clinical use. Rapid sequencing: It can sequence the entire genome quickly.
- Deep sequencing: NGS allows for in-depth analysis of targeted regions.
- Highly quantitative: It offers precise measurements and is adaptable to meet diverse clinical and medical requirements.
NGS is especially valuable for diagnosing rare genetic
disorders and single-gene disorders. Single-gene (or Mendelian) disorders occur when a specific gene is known to cause the condition. Examples include cystic fibrosis, muscular dystrophy, and polycystic kidney disease. These disorders are rare and follow predictable inheritance patterns when identified.NGS technology helps determine the inheritance patterns of such disorders, providing crucial information that guides clinicians in making treatment and management decisions. Additionally, it assists in assessing the recurrence risk of the disorder in future pregnancies.
Next Generation Sequencing – Clinical Information
Next Generation Sequencing (NGS) technology helps identify:
- Point mutations in autosomal recessive conditions or inborn errors of metabolism, where a specific metabolite fails to break down, leading to significant abnormalities. Examples include Phenylketonuria and Propionic Acidemia.
- X-linked disorders, such as Rett Syndrome, Adrenoleukodystrophy, and Hemophilia. Autosomal dominant conditions, such as Noonan Syndrome and Tuberous Sclerosis.
- Neuromuscular disorders, including Charcot-Marie-Tooth Disease, Hereditary Neuropathies, and Ciliopathies (e.g., Joubert Syndrome, Polycystic Kidney Disease, Retinitis Pigmentosa).
- Mitochondrial disorders, like Kearns-Sayre Syndrome and Mitochondrial Encephalomyopathy. Oncogenetics, identifying genetic mutations in cancer-related genes to guide targeted therapies.
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