1) NIPT
Safe–Non-invasive with no risk of miscarriage
Simple–Test from a small 10 ml maternal blood sample as early as week 10 of pregnancy
Accurate– >99% sensitivity for detection of chromosomal aneuploidy such as Down syndrome.
Trusted–Over thousands of tests conducted worldwide
Reliable– reducing the chance of needing to have more invasive diagnostic procedures
Non-invasive prenatal testing involves whole genome analysis of a fetus after 10 weeks starting with a simple blood draw from the mother. From this sample, we are able to analyze cell-free DNA from the fetus to screen for chromosomal aneuploidy. This test is highly accurate, and poses only a low risk to mother and child due to its noninvasive nature. In addition to revealing any chromosome abnormalities, this test can also be used to find out the gender of the baby.
Who should get the test?
All pregnant women should get the test, as most of the chromosomal abnormalities can affect mothers regardless of age and ethnicity. In addition, pregnant women who may have concerns about the possible health of their child can also opt for prenatal screening to reduce any fears or anxieties about the pregnancy. NIPT should also be a focus for older women, or any other groups that may have a higher risk of having a baby with chromosome abnormalities. Other increased risk factors in addition to maternal age are: family history of chromosome defects, ultrasound abnormalities, and a positive serum
screening test. For women considering amniocentesis or CVS, an NIPT screen would be a good start to determine if babies are at risk before undergoing more invasive procedures that are associated with higher rates of miscarriage.
What is the process like? How does it work?
Around 10 weeks into a pregnancy, a blood sample is taken from the mother. During gestation, the baby’s DNA can cross the placenta into the mother’s bloodstream. This DNA, organized into chromosomes, holds all the genetic information of the baby. The NIPT screen works by analyzing the fetal DNA in the mother’s blood sample to determine if the baby is at risk for any chromosome abnormalities that could impact his or her health.
Benefits of NIPT testing
NIPT testing uses the most current technology for prenatal screening. It has a high accuracy rate together with a low false-positive rate, with reliable results reducing the chance of needing to have more invasive diagnostic procedures.
2) Prenatal Diagnosis
Informative – Prenatal diagnosis tests can be performed if any prenatal screenings shows a high risk for any chromosomal abnormailities . It is an additional optional test that can be performed
Highly Accurate – Typically offered to women who are at a higher risk of having a baby with a genetic conditions or as a follow-up for anyone who had abnormal results with screening tests.
Common– The two most common procedures are chorionic villus sampling (CVS) and amniocentesis.
Three to four out of every 100 babies is born with some form of birth defects, major or minor. Some of these birth defects can be prevented, but most cannot. However, many may be detected before birth. This process of testing for birth defects and genetic conditions during pregnancy is referred to as prenatal diagnosis. Identifying certain birth defects and genetic conditions before a baby is born may enable a couple and their doctor to make decisions regarding the management of the pregnancy.
Prenatal diagnosis tests can be performed if any prenatal screenings shows a high risk for any chromosomal abnormailities. These tests are highly accurate and are typically offered to women who are at a higher risk of having a baby with a chromosomal aneuploidy, or as a follow-up for anyone who had abnormal results with screening tests. The two most common procedures are chorionic villus sampling (CVS) and amniocentesis. Unlike NIPT, these tests are invasive with a small risk of resulting in miscarriage. CVS and amniocentesis may cause slight discomfort, though most women do not usually experience any other difficulties after the procedures.
Chorionic villus sampling (CVS)
CVS is a diagnostic test that is typically done between the 9th to 14th week of pregnancy. A small sample of cells is taken from the placenta, which contains the baby’s genetic information. These cells are analyzed for chromosomal abnormalities.
Amniocentesis
Amniocentesis is another diagnostic test that is typically done between the 15th to 20th week of gestation. A small sample of amniotic fluid, the fluid that surrounds the baby in uterus, is taken and the genetic material is examined and evaluated for chromosomal abnormalities.