Genetic Screening Pregnancy Clinic In Chembur

Genetic counselling helps you understand how genes, birth defects and medical conditions run in families and how they affect your family's health and your future offspring. You may need genetic counselling if genetic diseases run in your family or if prenatal tests show your baby may be at risk for health conditions such as downs syndrome, neural tube defects.

Who should be offer genetic screening in pregnancy?

All pregnant women, regardless of age or circumstance, be offered genetic counselling and testing to screen for Down syndrome. It's especially important to consider genetic counselling if: a standard prenatal screening test has an abnormal result.

Some people will be higher risk for certain disease condition in there pregnancy who should be offer these test-

• People who have close relatives with genetic illnesses.

• Parents who already have a child with a genetic illness.

• Pregnant women over age 34 or those who have an abnormal prenatal screening test or amniocentesis.

• Women who have had two or more miscarriages, or delivered a stillborn baby that had physical signs of a genetic disorder.

what are the types of genetic testing?

a. prenatal genetic screening test- These tests can tell you the chances that your fetus has an aneuploidy and a few other disorders.

1. First trimester screening- This done at 11-13 weeks using ultrasound(to measure the nuchal thickness) and blood markers called dual marker, both together is known as combined screening. An abnormal measurement means there is an increased risk that the fetus has Down syndrome( trisomy 21) or another type of aneuploidy. It also is linked to physical defects of the heart, abdominal wall, and skeleton.

2. Second trimester screening- It is done between 15 weeks and 22 weeks of pregnancy. The “quadruple” blood test measures the levels of four different substances in your blood. The quad test screens for Down syndrome, Edward'S SYNDROME ( TRISOMY18), and NTDs( neural tube defects)

• An ultrasound exam done between 18 weeks and 22 weeks of pregnancy checks for major physical defects in the brain and spine, facial features, abdomen, heart, and limbs.

• NIPT( Non invasive prenatal test) -This test can be done starting at 10 weeks of pregnancy. It takes about 1 week to get the results. A positive cell-free DNA test result should be followed by a diagnostic test with amniocentesis or CVS.

b. prenatal diagnostic test- These tests can tell you whether your fetus actually has certain disorders. These tests are done on cells from the fetus or placenta obtained through AMNIOCENTESIS OR CHORIONIC VILLUS SAMPALING (CVS).

What do the different results of prenatal screening tests mean?

• A positive screening test result for aneuploidy means that your fetus is at higher risk of having the disorder compared with the general population. It does not mean that your fetus definitely has the disorder.

• A negative result means that your fetus is at lower risk of having the disorder compared with the general population. It does not rule out the possibility that your fetus has the disorder.

• Diagnostic testing with CVS or amniocentesis that gives a more definite result is an option for all pregnant women. Your DOCTOR or other health care professional, will discuss what your screening test results mean and help you decide the next steps.

what next?

It is your choice whether to have prenatal testing. Your personal beliefs and values are important factors in the decision about prenatal testing.

It can be helpful to think about how you would use the results of prenatal screening tests in your pregnancy care. Remember that a positive screening test tells you only that you are at higher risk of having a baby with Down syndrome or another aneuploidy. A diagnostic test should be done if you want to know a more certain result. Some parents want to know beforehand that their baby will be born with a genetic disorder. This knowledge gives parents time to learn about the disorder and plan for the medical care that the child may need. Some parents may decide to end the pregnancy in certain situations.

Other parents do not want to know this information before the child is born. In this case, you may decide not to have follow-up diagnostic testing if a screening test result is positive. Or you may decide not to have any testing at all. There is no right or wrong answer.