Non-Invasive Prenatal Test (NIPT)

Non-invasive Test for Trisomy 21, 18 and 13 + XY Ratio

Non-invasive tests are safe for the mother and the foetus as only a sample of maternal blood is required. Genatak offers a variety of NIPT tests depending on your particular need. This need is determined by professional genetic counselors working at Genatak clinic.

 

What is Trisomy 21, 18 and 13?

Genes are the part of a cell that contain the biological information that control the growth and development of cells. Genes, alone or in combination, determine many of the genetic traits that a person inherits, including risks of developing certain diseases or conditions. Genes are grouped into larger structures within the cells called chromosomes. The human body has 23 distinct chromosome pairs or copies. Trisomy 21, 18 or 13 means there are three copies of either chromosome 21, 18 or 13, instead of two.

 

What is Down’s Syndrome?

Down’s syndrome is a condition in which a third copy of chromosome 21 causes delays in the way a child develops, both mentally and physically. Not everyone with Down’s syndrome is affected in the same way, and there is no way to determine before birth how a child may be affected. There are three different types of Down’s syndrome with the most common referred to as trisomy 21. The other two types are called Robertsonian translocation and Mosaicism and these occur in about 4-6% of babies born with Down’s syndrome.

Down’s syndrome affects about 1 in every 700 babies. The risk to have a child with Down’s syndrome does increase with the mother’s age, but mothers of all ages can have a child with Down’s syndrome and it can occur in people of all races.

 

What is Edward’s Syndrome?

Trisomy 18, also known as Edwards syndrome, is caused by a third copy of chromosome 18. About 1 in every 5,000 babies is born with trisomy 18.

 

What is Patau Syndrome?

Trisomy 13, also known as Patau syndrome, is caused by a third copy of chromosome 13. The condition is much less common than Down syndrome and occurs in about 1 in 16,000 babies born.

 

Noninvasive Testing for Women at Increased Risk for Trisomy 21, 18 and 13

Our NIPT tests detect the relative amount of 21, 18, 13 and X/Y chromosomal material (mother and baby) that is circulating in your blood. We are currently working on introducing a new test that detects all chromosomal aberrations. This test is now undergoing validation testing.

The increased risk factors include one or more of the following:

  • Advanced maternal age
  • Personal/family history of chromosomal abnormalities
  • Fetal ultrasound abnormality suggestive of aneuploidy
  • Positive serum screening test

We or your healthcare provider can offer you our NIPT tests as early as 9-10 weeks in your pregnancy.

 

Why is Prenatal Testing for Trisomy 21, 18 and 13 Important?

Prenatal testing for trisomy 21, 18 and 13 can help determine whether your baby has a genetic abnormality. Knowing the risk for trisomy 21, 18 and 13 can help you, your family and your health care provider make informed decisions about your pregnancy.1,8 Please discuss your testing options with your health care provider.

With your health care provider you can prepare medically, emotionally and financially for the birth of a child with special needs, such as arranging for delivery in a medically appropriate setting.

 

Professional Society Statements

The American College of Obstetricians and Gynecologists (ACOG) recommends offering aneuploidy screening or invasive testing to all women, regardless of age.

The American College of Obstetricians and Gynecologists Committee on Genetics and the Society for Maternal-Fetal Medicine Publications Committee recommend noninvasive prenatal testing for fetal aneuploidy.

ISPD (International Society of Prenatal Diagnosis) ISPD recognizes that noninvasive prenatal testing (NIPT) can be helpful as a test for women who are at high risk for trisomy 21 with suitable genetic counseling. A positive test should be offered invasive testing.

NSGC (National Society of Genetic Counselors) NSGC supports NIPT as an option for patients whose pregnancies are considered to be increased risk for certain chromosome abnormities. NSGC urges that NIPT only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.

 

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