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Pregnancy is a beautiful journey. The thought of your baby having a genetic disorder, such as Down syndrome, can be overwhelming. What is supposed to be an exciting time is overtaken by worry and concern? Expecting parents want clarity about their baby’s health, but without access to the right genetic testing, that can prove challenging.

That’s where Geneticist comes in 

During the pregnancy period, the baby’s DNA circulates in the mother’s bloodstream. To determine your baby’s risk for genetic disorders, NIPT is a simple and safe blood screening test. This screening test can be done from as early as the ninth week of pregnancy. NIPT accurate test results give you the time to make informed decisions that are best for your family’s future.

NIPT test process – what to expect

The process is simple. After discussing the procedure with your dedicated genetic expert, he or she will help you find the closest sample collection center. A small sample of blood is collected from the mother’s arm – which poses no risk of miscarriage, unlike amniocentesis or CVS. You will receive your results, which you can discuss with your gynecologist and genetic counselor, within 15 days.

Listed below are some of the Genetic tests, one can consider.

To know the information about a person’s genes and chromosomes, these Genetic tests are very helpful. Following is the screening test:

Newborn screening

To identify genetic disorders just after birth, Newborn screening is used. In the United States, millions of babies are tested each year. All states currently test infants for phenylketonuria (a genetic disorder that causes intellectual disability if left untreated) and congenital hypothyroidism (a disorder of the thyroid gland). Most states also test for other genetic disorders.

Diagnostic testing

To identify the specific genetic or chromosomal condition, diagnostic testing is used. 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.

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. If both parents are tested, the test can provide information about a couple’s risk of having a child with a genetic condition. 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.

Prenatal testing

Prenatal testing is used to detect changes in a fetus’s genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple’s uncertainty or help them make decisions about a pregnancy.     ,l,l;,l,;;l,l;,,l,l,l,, It cannot identify all possible inherited disorders and birth defects, however.

Preimplantation testing

Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. In-vitro fertilization involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus to initiate a pregnancy.

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.

What is prenatal genetic testing?

Prenatal genetic testing gives parents-to-be information about whether their fetus has certain genetic disorders.

What are genetic disorders?

Genetic disorders are caused by changes in a person’s genes or chromosomes. Aneuploidy is a condition in which there are missing or extra chromosomes. In a trisomy, there is an extra chromosome. In monosomy, a chromosome is missing. Inherited disorders are caused by changes in genes called mutations. Inherited disorders include sickle cell disease, cystic fibrosis, Tay–Sachs disease, and many others. In most cases, both parents must carry the same gene to have an affected child.

There are two general types of prenatal tests for genetic disorders:

Prenatal screening tests: These tests can tell you the chances that your fetus has an aneuploidy and a few additional disorders. FAQ165 “Prenatal Genetic Screening Tests” focuses on these tests.

Prenatal diagnostic tests: These tests can tell you, with as much certainty as possible, whether your fetus actually has an aneuploidy or specific inherited disorders for which you request testing. These tests are done on cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS). This FAQ focuses on these tests.

Both screening and diagnostic testing are offered to all pregnant women.

What is amniocentesis?

Amniocentesis is a diagnostic test. It usually is done between 15 weeks and 20 weeks of pregnancy, but it also can be done up until you give birth. To perform the test, a very thin needle is used to withdraw a small amount of amniotic fluid. Ultrasound is used to guide the procedure. Depending on the way the cells are analyzed and the information that you want, results can take from 1 day to several weeks. There is a very small chance of pregnancy loss with amniocentesis. Leakage of amniotic fluid and slight bleeding can occur after amniocentesis. In most cases, both stop on their own.

What is chorionic villus sampling (CVS)?

CVS is another type of diagnostic test. In CVS, a sample of tissue is taken from the placenta. The two main advantages of having CVS over amniocentesis are that 1) CVS is performed earlier than amniocentesis, between 10 weeks and 13 weeks of pregnancy, and 2) the results are usually ready sooner for standard testing. With an experienced doctor, CVS carries about the same risk of pregnancy loss as amniocentesis.


What is pre-implantation genetic diagnosis?

Pre-implantation genetic diagnosis may be offered to couples who are using in vitro fertilization to become pregnant and who are at increased risk of having a baby with a genetic or chromosomal disorder. Before an embryo is transferred to a woman’s uterus, it is tested for certain genetic disorders and mutations. Only embryos that do not test positive for the disorders are transferred.

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