Test Directory

Noninvasive Prenatal Screening for trisomy 13, 18, 21, 22q11.2 microdeletion and optional fetal sex detection.

Noninvasive prenatal screening for trisomy 13, 18, 21 and optional sex chromosome aneuploidies. Recommended by ACOG for any pregnant woman, particularly those with a high-risk pregnancy.

Noninvasive prenatal screening to identify 22q11.2 deletion syndrome, also known as DiGeorge syndrome. Early detection allows for immediate intervention, specialized care, and prenatal management of issues like congenital heart defects, immunodeficiency, hypocalcemia, and developmental delays.

Specimen: Whole Blood

Collection Container: Streck Cell-Free BCT

Specimen Volume: 7-10 mL

1. Collect two Streck Cell-Free tubes.
2. Draw blood using Vacutainer system (butterfly not appropriate); invert tube 10 times.
3. Specimen must be collected at or greater than 10 weeks gestational age.

• Specimen collected at <10 weeks gestation
• Improperly labeled specimen (minimum of two patient identifiers)
• Inappropriate specimen type
• Incomplete or incorrect test request form
• Insufficient volume
• Specimen has leaked in transit
• Specimen without a test order

• NIPS
• NIPT
• cfDNA
• Cell Free DNA screening
• Noninvasive Prenatal Screening
• 22q deletion
• 22q11.2 deletion
• DiGeorge
• Fetal 22q11.2
• Microdeletion
• VCFS
• Velocardiofacial syndrome

Noninvasive prenatal screening using cell-free DNA testing is currently the most sensitive and specific screening test for common fetal aneuploidies involving chromosomes 21, 18, 13, X, and Y, as well as 22q11.2 microdeletion. This test can be completed as early as 10 weeks gestational age. NIPS can provide expecting mothers the knowledge needed to make medical decisions regarding pregnancy, including the decision to pursue more invasive testing methods. NIPS is the best option for expecting patients to predict the likelihood of certain chromosome aneuploidies such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13), and sex chromosome aneuploidies. NIPS can also predict the likelihood of 22q microdeletion syndrome, a condition caused by a small missing piece on chromosome 22. NIPS is now endorsed by the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine for all patients, regardless of maternal age. This test is suitable for singleton pregnancies and IVF with egg donor pregnancies (singleton).