What can NIPT tell me?
Many parents may feel that knowing as much as possible, as early as possible, can help them be better prepared. The results of testing may help you and your family plan and discuss options with your doctor, including the need for a diagnostic test to confirm the presence of a genetic condition.
What does NIPT screen for?
Genetic conditions are one cause of health problems. Some genetic conditions are caused by having an extra or missing chromosome1
People with Down syndrome experience learning difficulties, usually mild to moderate, and have physical differences like heart defects, hearing problems, thyroid problems, and an upward slant to the eyes. Many people with Down syndrome can hold jobs, live independently with support, and have a good quality of life.1
People with Edwards syndrome have severe learning difficulties and multiple physical differences like heart defects, brain abnormalities, cleft lip and palate, and low birth weight. Edwards syndrome can be life-threatening, but some people can live for years or even decades.
People with Patau syndrome have severe learning difficulties and multiple physical differences like heart defects, abdominal defects, brain abnormalities, cleft lip and palate, and other features. Patau syndrome can be life-threatening, but some people can live for years or even decades.
Females typically have two X chromosomes and males typically have one X and one Y chromosome. An extra or missing X or Y chromosome can cause a genetic condition. These conditions are usually not apparent at birth but may be associated with a higher chance for having difficulty in school, behavioral issues, or infertility.1
How is NIPT different from other options?1-6
* May include Patau Syndrome. Not all tests or labs include this result.
What can NIPT do for me?
NIPT can also determine the gender of the baby, if you wish to find out.
- Jones KL, Jones MC, del Campo M. Smith’s Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013.
- Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302-314.
- Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH. Accuracy of first trimester combined test in screening for trisomies 21, 18, and 13. Ultrasound Obstet Gynecol. 2017;49(6):714-720.
- Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005;353(19):2001-11.
- American College of Obstetricians and Gynecologists. Screening for fetal aneuploidy. Practice Bulletin No. 163. Obstet Gynecol. 2016; 127(5):e123-37.
- American College of Obstetricians and Gynecologists. Prenatal diagnostic testing for genetic disorders. Practice Bulletin No. 162. Obstet Gynecol. 2016; 127(5):e108-122.