Preconception Testing
Preconception health
Preconception health is a woman's health before she becomes pregnant. It means knowing how health conditions and risk factors could affect a woman or her unborn baby if she becomes pregnant. For example, some foods, habits, and medicines can harm the baby — even before he or she is conceived. Some health problems, such as diabetes, also can affect pregnancy.
Every woman should be thinking about her health whether or not she is planning pregnancy. One reason is that about half of all pregnancies are not planned. Unplanned pregnancies are at greater risk of preterm birth and low birth weight babies. Another reason is that, despite revolutionary advances in medicine and prenatal care, about one out of eight babies is born too early. Researchers are trying to find out why and how to prevent preterm birth. But experts agree that women need to be healthier before becoming pregnant. By taking action on health issues and risks before pregnancy, you can prevent problems that might affect the mother or the baby later.
Preconception Carrier Screenings: Purpose
Preconception means the testing is done before you get pregnant.
If you are thinking about getting pregnant, there are many things to consider. One of these is whether you are at risk of passing a genetic condition on to your baby. Some genetic conditions require the genetic mutation to be passed down by both parents. Some only need the genetic mutation from one parent. If you know you are at risk, you may consider getting a preconception carrier screening.
Preconception carrier screening is a test that can tell if you carry a genetic mutation for certain genetic disorders and whether you are at risk of having a child with a genetic disorder. Being a carrier means you have the genetic mutation inside your cells, but you don’t have the condition, or you have very mild symptoms. You could pass on the gene without knowing you have it. A screening is a test that is done to see if you have a condition even though you are not showing symptoms.
Some people know they have certain genetic conditions that run in their family. This means they could be a carrier of the genetic mutation. The testing will tell you if you have the genetic mutation. It can be part of your decision-making process when you are considering having a baby. Getting genetic testing done before getting pregnant gives you more options and more time to make decisions.
Details of carrier screening
The testing is very simple. You provide a sample of your blood, saliva, or tissue inside your cheek. Tests can be done for specific genes or for many disorders. Types of tests include:
Targeted carrier screening – You are tested based on your family history or ethnic background. Some races or ethnicities are more likely to carry certain genes. For example, African-Americans are more likely to carry sickle cell disease. And Tay-Sachs disease is more common in certain groups, including people of French Canadian or Cajun descent.
Expanded carrier screening – A single sample is used to test for many disorders. Your race or ethnicity does not determine what you are screened for. These screenings tend to focus on severe conditions that start early in life. Your doctor will discuss the different types of screenings with you and help you determine which is right for you. Your doctor may refer you to a certified genetics counsellor or a genetic scientist who can explain the results in a way to help you make decisions.
Some of the disorders included in screenings
Some expanded screening panels test for more than 100 different genetic disorders. Some of the most common disorders tested for include:
- Cystic fibrosis (CF)
- Fragile X syndrome.
- Sickle cell disease (SCD)
- Tay-Sachs disease.
- Huntington’s disease (HD)
- Spinal muscular atrophy (SMA)
- Thalassemias and hemoglobinopathies (red blood cell disorders).
FAQs
Preconception care is a set of interventions that are to be provided before pregnancy, to promote the health and well-being of women and couples, as well as to improve the pregnancy and child-health outcomes. The notion of preconception care aims to target the existing risks before pregnancy, whereby resources may be used to improve reproductive health and optimize knowledge before conceiving. The preconception period provides an opportunity to intervene earlier to optimize the health of potential mothers (and fathers) and to prevent harmful exposures from affecting the developing foetus. These interventions include birth spacing and preventing teenage pregnancy, promotion of contraceptive use, optimization of weight and micronutrient status, prevention and management of infectious diseases, and screening for and managing chronic conditions.
Pre-marital counselling and screening allows couples to test for the presence of infectious diseases such as HIV/AIDS, Hepatitis B and C, syphilis or for genetic diseases such as beta-thalassemia or sickle cell haemoglobinopathies in both male and female to ensure proper care is taken before a pregnancy is planned. Such services should be available at all clinics/outreach clinics and doctors should make patients aware that this is a necessary and important step to take before starting a family. Regular screening should be conducted in high risk families by testing them and having them sit down with a geneticist and receive counselling on the best course of action. This would greatly reduce the occurrence of hereditary disorders.
Your partner can do a lot to support and encourage you in every aspect of preparing for pregnancy. Here are some ways:
- Make the decision about pregnancy together. When both partners intend for pregnancy, a woman is more likely to get early prenatal care and avoid risky behaviours such as smoking and drinking alcohol.
- Screening for and treating sexually transmitted infections (STIs) can help make sure infections are not passed to female partners.
- Male partners can improve their own reproductive health and overall health by limiting alcohol, quitting smoking or illegal drug use, making healthy food choices, and reducing stress. Studies show that men who drink a lot, smoke, or use drugs can have problems with their sperm. These might cause you to have problems getting pregnant. If your partner won't quit smoking, ask that he not smoke around you, to avoid harmful effects of second-hand smoke.
- Your partner should also talk to his doctor about his own health, his family health history, and any medicines he uses.
- People who work with chemicals or other toxins can be careful not to expose women to them. For example, people who work with fertilizers or pesticides should change out of dirty clothes before coming near women. They should handle and wash soiled clothes separately.
Most genetic disorders require each parent to pass down the genetic mutation. If only one partner tests positive for a certain genetic mutation, your baby should be fine. If both of you test positive, your baby has a 25% chance of developing the disorder. If this happens, you have several options. You can:
- Get pregnant and undergo prenatal diagnostic testing to see if the foetus has the disorder.
- Use in-vitro fertilization and test the fertilized egg before it is transferred into the uterus.
- Use in-vitro with donor eggs or sperm from someone who does not carry the disorder.
- Choose to not become pregnant.
These can be hard decisions to make. Talk to your doctor about the benefits and risks of each option. You can also talk to a genetic counsellor. They are specialists who know more about genetic disorders and how they are inherited.
- Should I be screened for genetic disorders before I become pregnant?
- What should I be screened for?
- What kind of test will I have?
- How long until I get the results of the tests?
- What are the chances of the tests being wrong?
- Does my partner need to be tested too?
- Will I talk to a genetic counsellor?
- My partner and I both tested positive for a certain gene. Now what do we do?
Postnatal Genetic Testing
About 385,000 babies are born each day according to the UN.
The vast majority of these babies are born healthy, however, some arrive with a serious medical condition.
Approximately 3% of babies are born with some form of birth defect (cleft palate, spina bifida, down syndrome, heart valve defects, etc.)
Newborn Screening (NBS)
When the child is first born, you will want to perform a newborn screen for genetic disorders.
Most newborn screens are performed 12 to 48 hours after the baby is born, usually before the child has left the hospital.
New-born screening is a set of laboratory tests performed on new-born babies to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel prick when the baby is two or three days old. In the United States, new-born screening is mandatory for a defined set of genetic diseases, although the exact set differs from state to state. New-born screening tests focus on conditions for which early diagnosis is important to treating or preventing disease.
New-born genetic screening. Mandatory new-born screening programs are a classic public health success story. These programs save lives and prevent disability in thousands of infants every year by identifying certain conditions promptly after birth. Early detection of those conditions allows different kinds of treatments and interventions to be provided very early in a new-born’s life when it can really make a difference in health outcomes and even help to prevent severe, irreversible disability. The reason why some states include different tests in their screening programs is complicated. A decision has to be made about what test to include based on which ones will bring about the best health outcomes for new-borns. The decision-makers also have to consider the costs and feasibility of screening, diagnosis and treatment and weigh that against the potential health benefits of each test.
New-born screening – heel pricking for blood collection
Birth to All Ages Genetic Tests
A child born with a genetic disorder (monogenic) is missing the accurate DNA sequence for one particular gene. The human body is programmed by approximately 20,000 genes. These genes provide instructions to build a human body and keep it operational throughout a human lifespan.
No human being on earth can claim he is ‘NORMAL’. In fact, ‘Old Age’ is also a ‘DISEASE’. A disease that occurs from birth can be said 100% genetic. Whereas Old Age is a product of genetics and environment.
Genetic Diseases can be broadly divided into TWO groups based on age at onset.
Group 1: Birth to 1 year - Diseases with high heritability (inheritance) values i.e., 100% genetic involvement. Mostly includes ‘RARE DISEASES’.
Group 2: 1year to Death - Diseases with grades of proportion of Genetics & Environment differing from diseases to diseases and person to person known as ‘COMMON DISEASES’ also known as LIFESTYLE DISEASES (ex. Diabetes, Hypertension, Cardio-vascular diseases, etc.)
Until now clinical practice is ‘symptomatic’, now it’s based on ‘knowing the cause’ of the disease. Genetic testing heralded in knowing the Gene / Mutation causing the disease. At Genome Foundation our approach is ‘Theranostics’ means combining both diagnosis and therapeutics and differ for RARE and COMMON DISEASES.
Genome Foundation’s Approach
Rare Genetic Diseases is to identify the causative mutation of a gene causing the disease by undertaking Microarray, targeted Sanger sequencing or whole exome sequencing. Sequencing the parent samples undertaken to advise clinician for genetic counselling.
Common Diseases we adopt OMICs approaches including whole genome sequencing, metabolome, and microbiota towards Family Wellness in terms genes and risk evaluation.
List of Rare and Common Diseases treated by Genome Foundation
- Hay Fever – Hay fever is often an inherited trait (genetically determined). Most people with hay fever have a parent or sibling who also has allergies.
- Xanthomas Hypercholesterolemia – Xanthoma tendinosum (also tendon xanthoma or tendinous xanthoma) is clinically characterized by papules and nodules found in the tendons of the hands, feet, and heel. Also associated with familial hypercholesterolemia (FH). Xanthomas typically affect adults, although children with familial hypercholesterolemia may present with xanthomas.
- Tuberous Sclerosis – Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder can cause a wide range of potential signs and symptoms and is associated with the formation of benign (non-cancerous) tumours in various organ systems of the body.
- Lamellar Ichthyosis – Lamellar ichthyosis (LI) is a rare genetic skin disorder that is present at birth. It is one of three genetic skin disorders called autosomal recessive congenital ichthyoses (ARCI). The other two are known as harlequin ichthyosis and congenital ichthyosis form erythroderma.
- Woolly Hair with Palmoplantar Keratosis – Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
- Papillon-Lefevre Syndrome (PLS) – Papillon–Lefevre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial aetiologies.
- Beta Thalassemia (BT) – Beta thalassemia is an inherited blood disorder in which the body doesn't make as much beta globin as it should. Beta globin and alpha globin are building blocks of haemoglobin. Haemoglobin is the part of red blood cell (RBC) that carries oxygen throughout the body.
- Sickle Cell Anaemia – Sickle cells that block blood flow to organs deprive the affected organs of blood and oxygen. In sickle cell anaemia, blood is also chronically low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including kidneys, liver and spleen, and can be fatal.
FAQs
Typical postnatal genetic tests are performed by analyzing a blood sample from the child and the parents. DNA from the blood is extracted, amplified, processed, and analyzed using advanced software.
Chromosomal Microarray Analysis (CMA) is a microarray-based analysis that can analyze DNA of known genes from the entire human genome in one test. It is considered the first-line test for multiple congenital anomalies, developmental delays, intellectual disabilities, and autism spectrum disorders. It is a high-resolution test useful in analyzing the entire genome or a subset of the genome for the detection of aberrations in multiple genes, changes in chromosomal structure, and chromosomal aneuploidy.
As next-generation sequencing becomes more accessible for routine clinical use, whole genome sequencing and whole exome sequencing are becoming more prevalent for postnatal genetic testing. Whole genome sequencing (WGS) analyzes all the DNA sequences for an individual looking for known causative variants. Whole exome sequencing (WES) analyzes only the DNA sequences for all the genes coding for proteins (representing about 1% of one’s entire genome).
Depending on the patient's case, clinicians will use the proper tests to help with finding and confirming a diagnosis.
When parents observe developmental delays or disease symptoms in their child, having test after test done without producing a definite diagnosis could be very frustrating and increase anxiety. Having a diagnosis often brings relief and a sense of control for the parents. Also, for many congenital abnormalities and other genetic disorders, having an early diagnosis can provide physicians and parents with valuable information for early intervention, treatment, and proactive management of a child’s health and a family’s lifestyle.
With the advanced genetic testing technologies available today, not only is it attainable to obtain more precise genetic information with confidence, but also the journey through the diagnostic odyssey is shortened, which for some could be life-saving.
An additional benefit of having a child’s genetic information is the help it may provide parents with future family planning. If the genetic test shows a child has causative genetic aberrations, which could be inherited or occurred de novo during embryo development, it is highly recommended that the parents consider preconception carrier screening to determine their carrier status when they plan to grow their family.
Prenatal Tests
Pregnancy is a time of great anticipation — and, sometimes, anxiety. While most babies are born healthy, it's important to understand and seek details about the baby's health. Prenatal genetic screenings and diagnostic tests provide information on the foetus’s health. It can help families and healthcare providers make decisions about the pregnancy or the foetus. Genetic tests check for congenital conditions like Down syndrome, trisomy 13 and spina bifida.
Prenatal testing, including screening and diagnostic tests, can provide valuable information about the unborn baby's health. Understand the risks and benefits.
Types of prenatal testing
Prenatal genetic testing gives parents’ information about genetic disorders or birth abnormalities the foetus may have. Unlike some of the routine prenatal tests like blood type, blood count or glucose screening, these tests are optional. Nowadays several people decide to get prenatal genetic testing in addition to routine pregnancy testing. A person’s chromosomes or genes cause genetic disorders. A gene is part of the body’s cells that stores instructions for how the body works. A chromosome holds the genes. Congenital disorders are present at birth, and healthcare providers can diagnose some of these conditions before birth.
There are two different kinds of tests: screening tests and diagnostic tests:
- Screening tests. Prenatal screening tests can identify whether the baby is more or less likely to have certain birth defects, many of which are genetic disorders. Prenatal screening tests are usually offered during the first or second trimester. Screening tests can't make a definitive diagnosis. If results indicate an increased risk for a genetic disorder, the health care provider will discuss the options for a diagnostic test to confirm the diagnosis.
- Diagnostic tests. If a screening test indicates a possible problem — or your age, family history or medical history puts you at increased risk of having a baby with a genetic problem — you might consider an invasive prenatal diagnostic test. A diagnostic test is the only way to be sure of a diagnosis. Some diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a slight risk of miscarriage.
Types of screening tests
Prenatal screening tests include:
- First trimester screening tests.During the first trimester, the health care provider will offer a blood test and an ultrasound to measure the size of the clear space in the tissue at the back of a baby's neck (nuchal translucency). In Down syndrome and in certain other conditions, the nuchal translucency measurement is larger than usual.
- Second trimester screening tests.During the second trimester, the health care provider will offer another blood test called the quad screen. This test measures levels of four substances in the blood. Results indicate the risk of carrying a baby who has certain chromosomal conditions, such as Down syndrome. The test can also help detect neural tube defects — serious abnormalities of the brain or spinal cord.
- Prenatal cell-free DNA screening. This blood test examines foetal DNA in the maternal bloodstream to screen for the increased chance for specific chromosome problems, such as Down syndrome. This screening can also provide information about a baby's sex and Rh blood type.
Types of diagnostic tests
Diagnostic prenatal tests can confirm if the foetus has a genetic condition. These tests take cells from the amniotic fluid or placenta and test them for specific disorders. Diagnostic testing is only performed when a screening test is abnormal or if there is high risk for having a baby with a genetic condition.
The most common diagnostic tests are amniocentesis and chorionic villus sampling (CVS).
- Amniocentesis: Your provider inserts a needle through your skin into your uterus to remove a sample of amniotic fluid from the amniotic sac. Amniocentesis happens between 16 and 20 weeks of pregnancy.
- CVS: Your provider inserts a needle into your uterus to remove a small sample of cells from the placenta. The provider will determine if it’s safer to place the needle through your abdomen or your vagina. CVS occurs around 11 to 13 weeks of pregnancy, but can also be done put 19 weeks of pregnancy if the clinicians deem it necessary.
The provider then sends the samples to the lab for analysis. The lab can perform several types of diagnostic tests, including fluorescence in situ hybridization (FISH), standard karyotyping, and microarray or special panels. Some diagnostic test results can be ready in 72 hours, while others may take more than two weeks to complete.
What is Genome Foundation Offers
Pre- and post-genetic testing along with counselling for the expectant mother and her unborn baby.
Pre-test Counselling session
- Evaluates the family history and all relevant medical records
- It helps the family understand the genetic condition
- Explores the options available for Genetic Testing, its reliability, and limitations
- Discusses the risks and benefits of Genetic Testing
- Considers the inheritance pattern and risk of recurrence
- Declares the possible uncertainties due to the present lack of knowledge
- Discusses reproductive options
Post-test Counselling session
- Interprets the test results
- Discusses the need for further testing
- Explains inheritance pattern and risk of recurrence depending on the results and final diagnosis
- Discusses the available management and prevention options
- Addresses emotional and social concerns
- Discusses the implications of the report to the individual and the family
- Refers to other resources or support groups for help
FAQs
Prenatal care is the health care you get while you are pregnant. It includes your checkups and prenatal testing. Prenatal care can help keep you and your baby healthy. It lets your health care provider spot health problems early. Early treatment can cure many problems and prevent others.
Your doctor or midwife will give you a schedule for your prenatal visits. If you are over 35 years old or your pregnancy is high risk because of health problems like diabetes or high blood pressure, your doctor or midwife will probably want to see you more often. You can also expect to see your health care provider more often as your due date gets closer.
Prenatal screening tests for foetal abnormalities are optional. It's important to make an informed decision about prenatal testing, especially if you're screening for foetal conditions that can't be treated. Before going forward, consider these questions:
- What will you do with the test results?Test results within the standard range can ease your anxiety. However, if prenatal testing indicates that your baby might have a birth defect, you could be faced with wrenching decisions — such as whether to continue the pregnancy. On the other hand, you might welcome the opportunity to plan for your baby's care in advance.
- Will the information shape your prenatal care? Some prenatal tests detect problems that can be treated during pregnancy. In other cases, prenatal testing alerts your health care provider to a condition that requires immediate treatment after birth.
- How accurate are the results?Prenatal screening isn't perfect. The rate of inaccurate results, known as false-negative or false-positive results, varies from test to test.
- What are the risks?Weigh the risks of specific prenatal tests — such as anxiety, pain or possible miscarriage — against the value of knowing the results.
The decision to pursue prenatal testing is up to you. If you're concerned about prenatal testing, discuss the risks and benefits with your health care provider. You might also meet with a genetic counsellor for help choosing a test and understanding the results.
Taking the time to evaluate your options will help you make the best decision for you and your baby.
Antenatal Tests
Postnatal Genetic Testing
Most essential postnatal genetic testing is Newborn Screening.
Newborn Screening (NBS)
Newborn screening is a set of laboratory tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel prick when the baby is two or three days old. In the United States, newborn screening is mandatory for a defined set of genetic diseases, although the exact set differs from state to state. Newborn screening tests focus on conditions for which early diagnosis is important to treating or preventing disease.
Newborn genetic screening. Mandatory newborn screening programs are a classic public health success story. These programs save lives and prevent disability in thousands of infants every year by identifying certain conditions promptly after birth. Early detection of those conditions allows different kinds of treatments and interventions to be provided very early in a newborn's life when it can really make a difference in health outcomes and even help to prevent severe, irreversible disability. The reason why some states include different tests in their screening programs is complicated. A decision has to be made about what test to include based on which ones will bring about the best health outcomes for newborns. The decision-makers also have to consider the costs and feasibility of screening, diagnosis and treatment and weigh that against the potential health benefits of each test.
Genetic testing for inherited disease to improve quality of life
Testing for diseases that are genetic in origin, caused by aberrations associated with developmental delay, intellectual disability, and congenital anomalies, can vastly impact quality of life.
Diagnostic testing
Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person's life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disorder.
Predictive and presymptomatic testing
Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person’s risk of developing a specific disorder and help with making decisions about medical care.
Carrier testing
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition.
