Perinatal Symposium — 2012 SPP Fall Meeting — Houston, TX

Title: "Genetic Metabolic Disease in the Fetus and Neonate"
Symposium Director Galen Schauer

Symposium will address the following gaps in learners' knowledge:

  1. Which Genetic Metabolic diseases may present with prenatal findings identifiable by ultrasound, thereby coming to the pathologist for diagnosis after fetal demise or termination of pregnancy.
  2. What morphologic features in the placenta and fetus / neonate should alert the perinatal pathologist to suspect a specific Genetic Metabolic disease; what samples should be collected for further screening or definitive testing.
  3. What are the limitations of current Newborn Screening in identifying Genetic Metabolic Disease in the neonate? What disorders are likely to be missed?
  4. What does the pathologist need to know in order to suspect and then diagnosis more recently described genetic metabolic diseases, specifically disorders of cholesterol biosynthesis, and congenital disorders of glycosylation?

Needs Assessment Statement:

Over the past decade there have been great advances in prenatal screening for fetal disorders, by ultrasound and by maternal serum testing in pregnancy. Newborn screening for metabolic diseases has also been widely expanded, but is biased toward disorders in which early diagnosis in the newborn allows timely therapy (this means metabolic disorders presenting to the pathologists are more likely to have escaped detection by newborn screening). At the same time, there has been a rapid increase in the availability of molecular testing for a variety of Genetic Metabolic Diseases when they are suspected on the basis of abnormal morphology or biochemical testing. This has led to an increased need for pathologists to know how to evaluate the fetus or neonate for inborn errors of metabolism and to communicate this information to the clinicians and/or genetic counselors who are engaged with the parents.

Symposium Objectives

At the conclusion of this symposium, participants will be able to:

  1. Appraise and classify conditions with significant risk of underlying genetic metabolic diseases in the fetus or newborn presenting for autopsy.
  2. Plan and perform a comprehensive autopsy in suspected cases of genetic metabolic diseases, including collection of appropriate specimens for biochemical and molecular diagnosis of genetic-metabolic disease, including 'new' and expanding categories of genetic metabolic disease.
  3. Identify metabolic storage disorders that can be diagnosed on placental exam.
  4. Consider limitations of current newborn screening — i.e., disorders that present in utero or in the neonate that are likely to 'escape' detection with current Newborn Screening Standards — and formulate diagnostic plans accordingly.


Accreditation Statement
The Society for Pediatric Pathology is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

AMA Credit Designation Statement
The Society for Pediatric Pathology designates this live activity for a maximum of 4.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

International Physicians
The American Medical Association has determined that physicians not licensed in the US who participate in this CME activity are eligible for AMA PRA Category 1 Credit(s)™.

Health Professionals
Health Professional participants (including residents and fellows-in-training) may claim hours to receive a Certificate of Participation for an activity designated for AMA PRA Category 1 Credit(s)™.

CME Credits
Certificates of continuing medical education AMA PRA Category 1 Credit(s)™ will be issued through the Society for Pediatric Pathology. CME credits will only be awarded after completion of an online evaluation form.

Self-Assessment Module Credits
The SPP is accredited by the American Board of Pathology to offer Self-Assessment Module (SAM) credits for the purpose of meeting the American Board of Pathology requirements for Maintenance of Certification. Registrants must take and pass the post-test in order to claim SAMs credit(s). SAM credits are offered for the fall meeting and perinatal symposia only.