Prenatal Human Phenotype Ontology (HPO) Working Group,

Prof. Dr. Peter Robinson

Dear Colleagues, 

You are formally invited to participate in the Prenatal Human Phenotype Ontology (HPO) Working Group, led by Dr. Peter Robinson and Dr. Ronald Wapner with the support of the Fetal Sequencing Consortium. Given your expertise, we would like to include you in this project and hope you will be interested in participating in the prenatal ultrasound, MRI, echocardiogram, or pathology sub-group.   

Why are we doing this? 

The identification and evaluation of fetal structural anomalies is a major part of our practices.  Over the past few years, exome and now genome sequencing have demonstrated their importance in both the prenatal and neonatal management of these pregnancies.  Sequencing, however, is still early in transitioning into clinical care and we still have much to learn.  One of the critical steps in this transition is accurate phenotype-genotype correlation.  To accomplish this, we need standardized descriptions of fetal findings; both to make accurate clinical correlations and to incorporate emerging fields such as artificial intelligence into our interpretive tools. Use of the Human Phenotype Ontology has become the predominant approach to accomplishing this. 

What is HPO? 

The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. A diagram of the HPO phenotyping process is attached below 

What is the goal of the Prenatal Human Phenotype Ontology (HPO) Working Group? 

Currently, the HPO does not have sufficient coverage of prenatal diseases or phenotypes. In order to develop this for our field, we need the input from experts and thought leaders to extend the ontology to include and define terms required to cover prenatal phenotypes allowing the linkage of typical imaging findings to corresponding HPO terms. Participants in this project will include ultrasonologists, echocardiologists, fetal MRI experts, and perinatal pathologists.   

We are seeking your expertise to support the expansion of HPO to prenatal phenotypes, which is essential to the further development and use of exome/genome sequencing in prenatal research and clinical practice. 

What is the time commitment? 

Attendance at one orientation (2 hours) and then bi-weekly meetings with your working group (2 hours per month). You will be tasked with reviewing literature and adjudicating with your colleagues regarding appropriate terminology use and classification  

Are there sub-specialty working groups? 

Yes, there will be separate groups reviewing phenotypes seen via fetal ultrasound, MRI, echocardiogram, and pathology.  Please let us know in your registration the area you are interested in.

How do I participate? 

To confirm your interest, please register for the working group here. You are encouraged to register if you want to be included on this mailing list moving forward.

To accommodate participants from multiple countries and time zones, we will host two orientation/kick off calls on Monday 12/14: 8:30a-10:30a EST and Wednesday 12/16 5-7pm EST. Please register for the one that best fits your schedule. 

Although a recording will be made available of the orientation, you are encouraged to attend a synchronous event. Once completing the orientation/kickoff, working groups will meet regularly with the experts within your team. The coordination of the bi-weekly effort will be overseen by Dr. Robinson, Dr. Wapner, and Jessica Giordano.  

Workshop Orientation Option 1 Monday 12/14: 8:30am-10:30am EST: Register here

Workshop Orientation Option 2 Wednesday 12/16 5-7pm EST: Register here.

Please reach out to Jessica Giordano if you have any questions and forward to colleagues/fellows who may be interested. It is possible we have missed folks essential to this work due to lack of email or awareness of an individual's interest. Thank you for your interest and support of this exciting and transformative work. 


Dr. Ronald Wapner 

Dr. Peter Robinson 

Jessica Giordano, MS, CGC