Taking NIPT is easy. It requires a simple blood draw, and can be taken as early as 10 weeks into pregnancy. It is recommended to do an ultrasound before NIPT to make sure everything else looks good, and if it's twins we adjust the analysis accordingly.
NIPT can deliver clear answers as early as the first trimester with a single blood draw.
NIPT gives clear answers about the probability of trisomy 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome). Once the analysis is completed, your provider receives the results and shares them with you. Depending on the test package selected, results may also include prediction of fetal sex, risk for sex chromosome aneuploidies, and microdeletions/duplications such as 22q11.2 (DiGeorge syndrome).
During pregnancy, the mother’s blood contains fragments of the developing baby’s DNA. NIPT analyzes this DNA in a blood sample to determine the probability of trisomy 21 (Down syndrome), as well as trisomies 18 and 13, in the baby. At your request, you will also receive the prediction of your baby’s gender.
While traditional blood tests (first trimester screening = KUB) can miss as many as 15% of Down syndrome cases in pregnant women, NIPT’s DNA-based technology accurately
identifies more than 99% of cases.1
The NIPT test at Life Genomics uses whole genome sequencing to analyze all chromosomes, with particular focus on chromosomes 21, 18, and 13. While rare, these are the most common trisomies that occur in babies born to women of any age, when no other risk factors are known. Depending on the test package selected, NIPT can also analyze fetal gender, sex chromosome aneuploidies, and chromosomal deletions and duplications including 22q11.2 (DiGeorge syndrome). Read more about 22q11.2 deletion syndrome below.
NIPT by Life Genomics incorporates extensive quality controls. These controls include measurement of the fetal fraction (the amount of the developing baby’s DNA in each sample) to ensure that there is enough fetal DNA present to return a reliable result. Life Genomics’ laboratory is accredited according to ISO 15189, ensuring the highest quality standards for all analyses.
A microdeletion syndrome occurs when a small part of a chromosome is missing and is named after the part of the chromosome that is absent. NIPT by Life Genomics can evaluate risk for up to 92 deletions and duplications, including the 22q11.2 microdeletion (DiGeorge syndrome), the most common genetic cause of intellectual disability and heart defects after Down syndrome.
1. Zhang et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015 May;45(5):530-8.