Most babies are born healthy, however many parents-to-be are still\u00a0worried that something could go wrong before the birth of their child.<\/p>\n

WHO IS AT A HIGHER RISK\u00a0FOR HAVING A CHILD\u00a0AFFECTED WITH A GENETIC\u00a0DISORDER?<\/strong><\/p>\n

\u2022 A woman age 37 or greater.
\n\u2022 A couple who already has a child\u00a0with a genetic disorder.
\n\u2022 A couple with a family history of\u00a0a genetic disorder.<\/p>\n

 <\/p>\n

There are two types of tests that can be done during pregnancy.<\/strong>
\nThese include<\/strong><\/p>\n

Screening Tests \u2013<\/strong>\u00a0these\u00a0tests cannot give you definitive\u00a0information about the fetus, but\u00a0can tell if you are at an increased\u00a0risk of having a baby with birth\u00a0defects.<\/p>\n

Diagnostic tests \u2013\u00a0<\/strong>are\u00a0offered if any of the screening\u00a0tests show a high risk for fetal\u00a0abnormality. Chorionic Villus\u00a0Sampling and Amniocentesis test\u00a0the fetus\u2019s genetic material and therefore can tell you definitively\u00a0if the baby is affected with a\u00a0genetic disorder or not. As these\u00a0are invasive tests, there is a risk of\u00a0miscarriage associated with the\u00a0procedures.<\/p>\n

Non-Invasive prenatal testing (NIPT)
\n<\/strong><\/p>\n

A simple test using the mother\u2019s\u00a0blood can now tell doctors more\u00a0about the pregnancy than ever\u00a0before. Did you know that pieces\u00a0of the baby\u2019s DNA circulate in the\u00a0maternal bloodstream?<\/p>\n

DNA is the blueprint of life\u2014it\u00a0holds all of the genetic information\u00a0required for our bodies to\u00a0function. DNA carries this genetic\u00a0information on chromosomes.\u00a0Healthy humans have 23 pairs of\u00a0chromosomes. Any more or less\u00a0can lead to problems.<\/p>\n

NIPT is a screening test that\u00a0analyzes the fetal DNA (cell-free\u00a0or cfDNA) that circulates in the\u00a0maternal blood to determine the\u00a0baby\u2019s risk for a number of genetic\u00a0abnormalities.<\/p>\n

What conditions can the test detect?
\n<\/strong><\/p>\n

The test screens for the most\u00a0common chromosomal\u00a0abnormalities, which can cause\u00a0serious birth defects, intellectual\u00a0disability, or other problems in the\u00a0baby. The test can also tell you the\u00a0sex of your baby, if you wish to\u00a0know.<\/p>\n

The test can also detect abnormalities of the sex chromosomes:
\n<\/strong><\/p>\n

Turner syndrome (Monosomy\u00a0X), which is caused by a missing\u00a0X chromosome in females.\u00a0The disorder may cause heart\u00a0defects, hearing problems,\u00a0stunted growth, infertility and\u00a0minor learning disabilities.\u00a0Many pregnancies with Turner\u00a0syndrome miscarry before\u00a0delivery.<\/p>\n

Klinefelter syndrome (XXY),\u00a0which is caused by an extra\u00a0X chromosome in males. The\u00a0disorder may cause delayed\u00a0or absent puberty, learning\u00a0difficulties and tall stature. Most\u00a0males with Klinefelter syndrome\u00a0are infertile.<\/p>\n

XYY or XXX syndrome,\u00a0which is caused by an extra Y\u00a0chromosome in males or an\u00a0extra X chromosome in females.\u00a0Individuals with this disorder\u00a0may have tall stature and an\u00a0increased risk for learning\u00a0difficulties or delayed motor\u00a0skills. Fertility is not usually\u00a0affected and some individuals\u00a0have no symptoms at all.<\/p>\n

If your healthcare provider recommends it, the test can also screen for the following conditions, which are not routinely tested:
\n<\/strong><\/p>\n

Trisomy 9, an extra copy of\u00a0chromosome 9\u00a0Trisomy 16, an extra copy of\u00a0chromosome 16\u00a0Common micro-deletions\u00a0such as DiGeorge syndrome,\u00a0Angelman syndrome, Prader-\u00a0Willi syndrome, Wolf-\u00a0Hirschhorn syndrome and Cridu-\u00a0chat syndrome\u2014 which are\u00a0all caused by the loss of a small\u00a0piece of a chromosome.<\/p>\n

What will the Results Represent?
\n<\/strong><\/p>\n

If your results are normal, this\u00a0means that the disorders tested\u00a0for were not detected, which can\u00a0provide significant reassurance.\u00a0In the case of an abnormal\u00a0result, your healthcare provider\u00a0will discuss what that means for\u00a0your pregnancy and will offer a\u00a0diagnostic test such as CVS or
\nAmniocentesis to confirm the\u00a0result.<\/p>\n

When Can the Test be Done?
\n<\/strong><\/p>\n

The test can be performed from\u00a0week 10 onwards of the pregnancy.<\/p>\n

A Non-invasive Prenatal Test Can Screen For
\n<\/strong><\/p>\n

Down syndrome (Trisomy 21), which is caused by\u00a0an extra copy of chromosome 21. The disorder is the\u00a0most common genetic cause of intellectual disability,\u00a0and it may also cause heart defects, other organ\u00a0defects, and hearing or vision problems.\u00a0Edwards syndrome (Trisomy 18), caused by an extra\u00a0copy of chromosome 18. The disorder causes severe\u00a0intellectual disability along with serious defects\u00a0of the heart, brain and other organs. Babies with\u00a0Edwards syndrome usually survive less than one year.\u00a0Patau syndrome (Trisomy 13), caused by an extra\u00a0copy of chromosome 13. The disorder causes severe\u00a0intellectual disability and many serious birth defects.\u00a0Babies with Patau syndrome usually survive less than\u00a0one year.<\/p>\n