Resources

Table of adherence to 2016 ACMG guidance for NIPS laboratories

Information about prenatal screening and testing options:

• American Pregnancy Association
• March of Dimes

Non-invasive prenatal testing (NIPT):

• Mayo Clinic
• Genetic Support Foundation
• National Coalition for Health Professional Education in Genetics (NHCPEG)

Genetic conditions detected by NIPT:

• Chromosome aneuploidies:
  • Down syndrome (trisomy 21)
    • National Down Syndrome Congress
    • National Down Syndrome Society
    • National Association for Down Syndrome
  • Trisomy 18 (Edward syndrome)
    • Trisomy 18 Foundation
    • SOFT (Support Organization for Trisomy)
  • Trisomy 13 (Patau syndrome)
    • SOFT (Support Organization for Trisomy)
  • Turner syndrome (45,X)
    • Turner Syndrome Society of the United States
    • Turner Syndrome Foundation
  • Klinefelter syndrome (47,XXY)
    • Association for X and Y Chromosome Variations (AXYS)
  • Jacob syndrome (47,XYY)
    • Association for X and Y Chromosome Variations (AXYS)
  • Trisomy X (47,XXX or Triple X syndrome)
    • Association for X and Y Chromosome Variations (AXYS)
  • 48,XXYY
    • XXYY Project
  • Trisomy 16
    • Disorders of Chromosome 16 Foundation
  • Trisomy 22
    • Chromosome 22 Central
  • Triploidy
    • Unique (Rare Chromosome Disorder Support Group)

• Microdeletions:
  • 22q11.2 deletion syndrome (DiGeorge syndrome, Velocardiofacial syndrome [VCFS])
    • International 22q11.2 Foundation
    • Velo-Cardio-Facial Syndrome Educational Foundation
    • Chromosome 22 Central
  • 5p deletion syndrome (Cri-du-chat)
    • 5p- Society
  • Prader-Willi syndrome
    • Prader-Willi Syndrome Association (USA)
  • Angelman syndrome
    • Angelman Syndrome Foundation
  • 1p36 deletion syndrome
    • 1p36 Deletion Support & Awareness
  • 11q deletion syndrome (Jacobsen syndrome)
    • 11q Research & Resource Group
  • Langer-Giedion syndrome (8q deletion, trichorhinophalagneal syndrome II [TRSP2])
    • Genetics Home Reference
  • 4p deletion syndrome (Wolf-Hirshhorn syndrome)
    •  4p- Support Group
    • Wolfhirshhorn.org

Research trials examining the efficacy of NIPT:

• United Kingdom’s RAPID project (Reliable Accurate Prenatal non-Invasive Diagnosis)
• Canada’s PEGASUS project (PErsonalized Genomics for prenatal Aneuploidy Screening USing maternal blood)

NIPT testing labs and companies:

• Based in the United States; some also offer their test to customers outside the United States:
  • Ariosa’s Harmony™
  • LabCorp’s informaSeq℠
  • Natera’s Panorama™
  • Sequenom’s MaterniT21 PLUS™ (information available for patients, for providers, or for insurance)
  • Verinata’s verifi®
• Based outside the United States:
  • Berry Genomics’s BambniTest™
  • BGI’s NIFTY™
  • GENDIA
  • Igenomix NACE
  • LifeCodexx’s PrenaTest®

 

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