Frequently Asked Questions

What is Trisomy 13?

Trisomy 13, also called Patau Syndrome, is a chromosomal condition that affects approximately one in every 16,000 live births. It is typically associated with congenital heart defects, severe developmental disabilities, brain or spinal cord abnormalities, and a cleft lip or palate.

What is Trisomy 18?

Trisomy 18, also called Edward’s Syndrome, is a chromosomal condition that affects about one in every 5,000 live births. It is typically associated with defects in the heart and lungs as well as the kidneys and digestive system. Many children with Trisomy 18 also have cleft palate and developmental delays.

What kind of information will the Trisomy 13/18 Registry collect?

The purpose of the Trisomy 13/18 Registry is to capture the demographic, clinical, surgical, and psychosocial profiles of children with Trisomy 13 and children with Trisomy 18. A particular focus is to better understand the outcomes of children with either condition who undergo cardiac surgery.

What will the registry need to know about my child?

A survey sent to parents will ask you to provide information related to:

Your child’s birth and his or her heart problem
Details about their cardiac surgery, if it was performed
Your child’s quality of life
The name of the medical center where your child is being seen or was seen and the name of your child’s cardiologist (or other doctor providing care)

Medical center research data collection will also include information regarding:

Detailed cardiac diagnoses
Surgeries and procedures
Summaries of physical exams and test results

Is my child eligible for the registry?

The following criteria must be met for a child to participate in the Trisomy 13/18 registry:

A diagnosis of Trisomy 13 or Trisomy 18
Those who have been diagnosed and had cardiac surgery, as well as those who have not had cardiac surgery
Non-survivors may also be registered

Where is this study being conducted?

The registry’s studies are being conducted at Boston Children’s Hospital, the lead hospital in the research, and six other pediatric hospitals across the U.S.

Medical Center	Investigator	Specialty
Boston Children’s Hospital/ Harvard University	Christopher Baird, MD Kevin Friedman, MD	Cardiac Surgery Cardiology
Morgan-Stanley Children’s Hospital/ Columbia University, New York	Emile Bacha, MD	Cardiac Surgery
Stanford Children’s Health – Lucille Packard Children’s Hospital	Seda Tierney, MD	Cardiology
Children’s Hospital of Philadelphia/ University of Pennsylvania	Stephanie Fuller, MS Maryam Naim, MD Stephen Paridon, MD Natalie Rintoul, MD	Cardiac Surgery Cardiology Cardiology Neonatology
University of North Carolina Children’s Health	Mahesh Sharma, MD	Cardiac Surgery
C.S. Mott Children’s Hospital/University of Michigan	Richard Ohye, MD Caren Goldberg, MD Jeffery Zampi, MD	Cardiac Surgery Cardiology Cardiology
Children’s Healthcare of Atlanta/ Emory University	Paul Chai, MD	Cardiac Surgery

Medical Center

Investigator

Specialty

Boston Children’s Hospital/ Harvard University

Christopher Baird, MD
Kevin Friedman, MD

Cardiac Surgery
Cardiology

Morgan-Stanley Children’s Hospital/ Columbia University, New York

Emile Bacha, MD

Cardiac Surgery

Stanford Children’s Health – Lucille Packard Children’s Hospital

Seda Tierney, MD

Cardiology

Children’s Hospital of Philadelphia/ University of Pennsylvania

Stephanie Fuller, MS
Maryam Naim, MD
Stephen Paridon, MD
Natalie Rintoul, MD

Cardiac Surgery
Cardiology
Cardiology
Neonatology

University of North Carolina Children’s Health

Mahesh Sharma, MD

Cardiac Surgery

C.S. Mott Children’s Hospital/University of Michigan

Richard Ohye, MD
Caren Goldberg, MD
Jeffery Zampi, MD

Cardiac Surgery
Cardiology
Cardiology

Children’s Healthcare of Atlanta/ Emory University

Paul Chai, MD

Cardiac Surgery

Trisomy 13/18 Registry Frequently Asked Questions