Non-Invasive Detection of a De Novo Frameshift Variant of

We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound.Whole trio exome sequencing (WES) on cell-free fetal DNA (cff-DNA) revealed a de novo frameshift variant of the X-linkedThis study confirms the advantage of WES on cff-DNA and emphasizes the role of the type of the variant in X-linked disorders.