DMD and ichthyosis: Overall, 34 P/LP CNVs were detected in 32 fetuses (Table 3, abnormal serum screening group: No 1–20, enlarged NT group: No 21–32): 2 case had a microdeletion in the region of azoospermia factor (AZF) locus of the Y chromosome, 3 case had microdeletion in the X chromosome involving DMD, Leri-Weill dyschondrostosis and ichthyosis respectively.