Course : Hot Topics in Perinatal Genetics

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.




Perinatal genetics, like other subdisciplines of genetics, is advancing at a rapid pace. We are continuously challenged with evolving diagnostic tools, and new differential diagnoses. This session will provide updates regarding several important topics in perinatal genetics. Cell free DNA screening (cfDNA, NIPS) has evolved from screening for trisomy 21 to the non-invasive whole genome. Most recent updates and current guidelines for utilization of cfDNA in the clinical setting will be reviewed. The epidemiology of Zika virus, and its role in congenital microcephaly will be discussed, considering the “new” threat of Zika infection. Fetal therapy is of burgeoning interest in the prenatal practice. Current prenatal therapies, including fetoscopic and open procedures, will be reviewed. Utilization of rapid genome sequencing in the perinatal realm will be summarized. Finally, this session will also provide an overview of recurrent pregnancy loss.

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting attendees include:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here


Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)



At the conclusion of this course, participants should be able to:

1. Recognize the current clinical recommendations for cell free DNA screening
2. Identify the risk for microcephaly following maternal Zika infection
3. Describe current fetal therapies
4. Discuss current applications of exome and genome sequencing in the perinatal setting
5. Identify etiologies for recurrent pregnancy loss

Purchase without Educational Credits