Fetal exome sequencing was performed on a fetus with a variety of ultrasound and MRI findings and it revealed the presence of the novel c.2836-3C>G splicing mutation in CHD7 (Likely Pathogenic). CHARG
Introduction In October 2020, a national rapid prenatal exome sequencing (pES) service was rolled out across the English National Health Service (NHS). This service is delivered by multiple clinical a
The genome sequence data of NIPD trio #1, including the genome sequencing of the father (PB), mother (blood cell), the offspring (cord blood) and the maternal plasma at GW of 13.
Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF re
