Funding for this research was provided by:
Howard Hughes Medical Institute (JGG)
Received: 5 June 2019
Accepted: 23 April 2020
First Online: 13 May 2020
Ethics approval and consent to participate
: The University of California San Diego Human Research Protection Program (HRPP) IRB approved recruitment of subjects for NGS and return of research results to the referring physician and family under protocol #140028 entitled “The Genetics of Childhood Neurological Diseases” with Dr. Gleeson as PI. All subjects or their parents or legal guardians signed a consent in their fluent language, and additionally an assent was signed by mentally capable underaged individuals in the form of a childhood assent if between the ages of 7–12, and an adolescent assent if between the ages of 13–16 years of age. The study was submitted to and approved by the Egyptian National Research Centre Medical Research Ethical Committee (MREC) serving as the local ethics committee in Egypt. The Egyptian National Research Centre Medical Research Ethical Committee (MREC) IRB approved the study for confirmation of research results, fetal genotyping and genetic counseling for families from the Clinical Genetics Department with Dr. Zaki as PI. The Egyptian National Research Centre Medical Research Ethical Committee (MREC) IRB approved the study for the Department of Prenatal Diagnosis and Fetal Medicine with Dr. Gaber as PI for amniocentesis, genetic testing, and eTOP. The IRBs were independent from the investigators and sponsors, and were from the same institute and country in which the study took place. Appropriate ethical committee approval was included for both countries.
: Written consent for publication of identifying images and other personal and clinical details of participants that compromise anonymity was documented in the consent form that was signed by all participants. Written consent for publication of identifying images or other personal or clinical details of participants under the age of 18 that compromise anonymity was documented in the consent form and signed by parents or legal guardians.
: All authors declare no competing interests