Genetics

  • For all new babies with Down syndrome, please consult your Genetics team.
    • If the baby is in the NICU, please consult the Genetics team as soon as your team feels it is clinically appropriate. Genetic professionals are happy to be involved in the patient’s care or provide additional support to the family.
    • If you suspect that the baby has a postnatal diagnosis in the newborn nursery, please consult the Genetics team as soon as you suspect the diagnosis.
    • If the baby is in the newborn nursery and already has a prenatal diagnosis, please consult the Genetics team anytime before discharge.
  • For postnatal diagnosis: Please send FISH and karyotype to your affiliated Genetics lab.

Down syndrome health screening

  • Thyroid function tests
    The Newborn Screening Program routinely runs T4 on all babies. Babies with Down syndrome may have slightly elevated TSH; therefore, please note the following on the NBS paperwork: “Suspected known Down syndrome diagnosis. Please check TSH and T4.”
  • Check a CBC with differential
    This rules out Transient Myeloproliferative Disorder
  • Cardiac evaluation:
    • Please consult Cardiology for all babies with Down syndrome within 24 hours of birth. Cardiology will arrange for an echocardiogram, which will be done regardless of whether there is an audible murmur.
    • Prior to Cardiology arriving for consultation, please check an initial ECG, 4-extremity blood pressures, and pre- and post-ductal saturations.
  • Car seat evaluation
  • Check red reflex

Referrals

Lactation support

  • Many babies with Down syndrome can successfully breastfeed with additional lactation support.
  • Please arrange for a lactation consultant to visit with the mom and baby before discharge. Massachusetts Down Syndrome Congress (MDSC)
  • The MDSC will provide free books and information about Down syndrome to the patient and family.
  • The MDSC can also connect the family, if they are interested, with another family who already has a child with Down syndrome and was in similar circumstances. Enclosed in this packet is a consent form that can be used for you to gather the family’s permission to share their contact information with the MDSC.
  • For more information, visit the MDSC website.

Early Intervention services

  • Prior to discharge, please enroll your patient in the Massachusetts Early Intervention Program.
  • Read more details about the Massachusetts Early Intervention Program.
  • To set up an evaluation with Early Intervention, call 1-800-905-8437.

© 2012 MassGeneral Hospital for Children. Rev: 9/2012. This document is intended to provide health related information so that you may be better informed. It is not a substitute for a doctor's medical advice and should not be relied upon for treatment for specific medical conditions.