Patient Resource Summary for Medical Organizations and Testing Labs

The recommended resources listed are included in the ACMG Non-Invasive Prenatal Screening Guidelines and/or were created with input from representatives of the national medical and genetics organizations. The parent support groups are the nationally-recognized advocacy organizations for each condition.

This page can also be used as a template for patient resource pages to be used by commercial prenatal screening and testing labs.

Prenatal Testing Information

• Genetic Support Foundation
• Understanding Prenatal Screening and Testing for Chromosome Conditions

Down syndrome or Trisomy 21

Recommended resources:

• Understanding a Down Syndrome Diagnosis
• Down Syndrome Pregnancy
• MedlinePlus: Down syndrome

Parent Support Groups:

• National Down Syndrome Society
• National Down Syndrome Congress
• Down Syndrome Diagnosis Network

Trisomy 13 (Patau syndrome) and Trisomy 18 (Edward’s syndrome)

Recommended resources:

• MedlinePlus: Trisomy 18
• MedlinePlus: Trisomy 13

Parent Support Groups:

• Trisomy 18 Foundation
• Chromosome 18 Registry & Research Society
• Support Organization for Trisomy 18, 13 and Related Disorders (SOFT)

Trisomy 16

Recommended resources:

• MedlinePlus: Trisomy 16

Parent Support Groups:

• Disorders of Chromosome 16 Foundation

Trisomy 22

Recommended resources:

• MedlinePlus: Trisomy 22

Parent Support Groups:

• Support for Disorders of Chromosome 22

Turner Syndrome (45,X)

Recommended resources:

• Understanding Turner Syndrome
• MedlinePlus: Turner Syndrome

Parent Support Groups:

• Turner Syndrome Society of the US

Klinefelter Syndrome (47,XXY)

Recommended resources:

• Understanding Klinefelter Syndrome
• Klinefelter Syndrome: A Guide for Families by American Academy of Pediatrics
• MedlinePlus: Klinefelter syndrome

Parent Support Groups:

• Association for X and Y Chromosome Variations (AXYS)
• The Focus Foundation

Jacob’s Syndrome (47,XYY)

Recommended resources:

• About 47,XYY Brochure by AXYS
• MedlinePlus: 47,XYY Syndrome

Parent Support Groups:

• Association for X and Y Chromosome Variations (AXYS)
• The Focus Foundation

Trisomy X (47, XXX)

Recommended resources:

• About 47,XXX by AXYS
• MedlinePlus: 47,XXX Syndrome

Parent Support Groups:

• Association for X and Y Chromosome Variations (AXYS)
• The Focus Foundation

Spina bifida

Recommended resources:

• Expectant Parents Guide to Spina Bifida
• MedlinePlus: Spina Bifida

Parent Support Groups:

• Spina Bifida Association

22q deletion syndrome

Recommended resources:

• MedlinePlus: 22q Deletion

Parent Support Groups:

• International 22q Foundation
• 22q Family Foundation

5p (Cri-du-chat syndrome)

Recommended resources:

• Genetics Home Reference

Parent Support Groups:

• International Cri Du Chat
• Five P Minus Society

15q (Prader-Willi/Angelman Syndrome)

Recommended resources:

• Understanding a Prader-Willi Syndrome Diagnosis
• Genetics Home Reference

Parent Support Groups:

• Prader-Willi Association USA
• Foundation for Prader-Will Research
• Angelman Syndrome Foundation

1p36 deletion syndrome

Recommended resources:

• Genetics Home Reference

Parent Support Groups:

• 1p36 Deletion Support & Awarenes

4p (Wolf-Hirschhorn syndrome)

Recommended resources:

• Genetics Home Reference

Parent Support Groups:

• 4p Support Group
• wolfhirschhorn.org

8q (Langer-Giedion syndrome)

Recommended resources:

• Genetics Home Reference

Parent Support Groups:

• Unique: Rare Chromosome Disorder Support Group

11q (Jacobsen syndrome)

Recommended resources:

• Understanding a Jacobsen Syndrome Diagnosis
• Genetics Home Reference

Parent Support Groups:

• 11q Research and Resource Support group

Osteogenesis Imperfecta

Recommended resources:

• Osteogenesis Imperfecta: Navigating a New Diagnosis

Parent Support Groups:

• Osteogenesis Imperfecta Foundation