Resources

Below you will find resources to assist healthcare providers in discussing NIPS with patients.

Result Interpretation Guides

Trisomies

• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Multiple aneuploidies

Sex Chromosome Anomalies

• Monosomy X (Turner syndrome)
• XXY (Klinefelter syndrome)
• Trisomy X (Triple X syndrome)
• XYY (Jacob syndrome)

Microdeletions

• 22q11.2 deletion syndrome
• 1p36 deletion syndrome
• 15q11.2 deletion syndrome
• 5p deletion syndrome (Cri du chat syndrome)
• 4p deletion (Wolf-Hirschhorn syndrome)

Please remember NIPS is a screening, not  a diagnostic, test. False positive and false negative results may occur. Clinical management decisions are the responsibility of the ordering healthcare provider.

For more information about Non-invasive prenatal screening (NIPS), contact PathGroup Client Services at 1.888.474.5227.