Guidelines for Care in Infants and Children with Trisomy 18 and 13 Syndromes

PROFESSIONAL VIEWPOINT:  Guidelines for Care of Infants and Children with Trisomy 18 and Trisomy 13 Syndromes. 

By John C Carey, MD, MPH, Medical Advisor, SOFT
and Dr Anna Cereda ( Monza, Italy)

Reprinted from the SOFT Times newsletter, Aug/Sep/Oct 2011

In previous SOFT newsletters, I have presented guidelines for routine care of infants and children with the trisomy 18 and trisomy 13 syndromes.  In addition, I have summarized the rationale for these recommendations for health supervision and anticipatory guidance in the chapters in the book entitled Management of Genetics Syndromes, edited by Drs. Suzanne Cassidy and Judith Allanson, published by Wiley-Blackwell.  This book, currently in its 3rd edition, was published in 2010.  Please refer to this latest chapter for the details of each of these guidelines.  Below is a tabular form of the current version of the recommended guidelines for usage in the hospital and clinic setting.

Health Supervision and Anticipatory Guidelines for Care of Infants and Children with the Trisomy 18 and Trisomy 13 Syndromes

  Manifestation/Theme Diagnostic   or Screening Test/Referral

Infants (0-1)

Congenital heart defect

Cardiac evaluation,   including echocardiogram, in newborn period and later as indicated.


Developmental disability

Referral to Early   Intervention and to appropriate programs for children with disabilities (OT,   PT, speech).


Growth delay

Measure length, weight,   and head circumference at every visit; plot on trisomy 18/13 growth curves   (available on SOFT web pages).


Feeding difficulties

Referral to dysphagia or   feeding team; assessment for GE reflux; consider G-tube at 6 months; always   consider upper airway obstruction.


Hearing loss

Audiology in newborn   period and at 6 months of age; followup as needed.


Neurologic conditions

Diagnostic neuroimaging   in newborns and infants with trisomy 13 as needed; referral to Child   Neurology for seizure management if needed.


Eye abnormalities

Referral to   Ophthalmology in newborns with trisomy 13; referral at 6-8 months in trisomy   18.


Respiratory difficulties

Refer to Pediatric   Pulmonology or sleep specialist when appropriate; always consider upper   airway obstruction.


Neoplasia (Wilms   tumor/hepatoblastoma)

Every 6-month abdominal   ultrasound starting at 6 months in children with trisomy 18 until age14 years.


Genetic issues

Referral for medical   genetics consultation and genetic counseling as needed.


Family coping

Referral for family   counseling and pastoral care as needed; referral to support groups, local   &  national; distribution of web   pages; palliative care team as indicated.


Older Children

Developmental disability

Referral to special   education, other educational services (PT, OT, speech).


Urinary tract infection

High risk of suspicion;   evaluate when needed.


Scoliosis (especially in   trisomy 18)

Follow closely clinically and referral to Orthopaedics if any sign.