Prenatal Precise

Test Information

Non-Invasive Prenatal Testing (NIPS) is a screening test used to help determine a pregnant woman’s chance to have a baby with trisomy 21(Down syndrome), trisomy 18, or trisomy 13. If desired, it can also provide information about the likely sex of the baby. NIPT should be offered to all pregnant women

Turnaround Time

7 days

CPT Code(s)

81420

Cost

Clinical Information

Down syndrome is caused by an extra copy of chromosome 21. Individuals with Down syndrome have distinctive physical features and an increased risk for birth defects such as heart and bowel problems. People with Down syndrome also have mild to moderate intellectual disability. Trisomy 13 and Trisomy 18 are more severe chromosome disorders. They are caused by an extra copy of chromosome 13 or 18. These are not as common as Down syndrome. Babies with either condition usually have many birth defects, severe developmental problems and few survive the first year of life. In general, trisomy conditions occur by chance and there is nothing someone did (or did not do) before or during pregnancy to cause them. It is uncommon for a trisomy condition to run in a family.

Indications

ACOG recommends screening for common aneuploidies be offered to all patients, regardless of maternal age or medical history. The three most common trisomy disorders are trisomy 21, trisomy 18, and trisomy 13. (Rose et al. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol. 2020 Oct;136(4):e48-e69. PMID: 32804883.)

Detection

100% Detection Rate for trisomy 21 and trisomy 18 with a 0.1% false positive rate. 91.7% Detection Rate for trisomy 18 with a 0.3% false positive rate. Observed no-call rate is 0.68%. (Ericsson et al. Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma. Prenatal diagnosis. 2019 39(11), 1011–1015. PMID: 31429096)

Specimen Requirements

2 x 10 ml tubes of whole blood in streck tubes. Please contact the lab to request tubes.

Prenatal Testing Information

Prenatal diagnosis is available following positive NIPT result. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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