Inverse shifting PCR based prenatal diagnosis of hemophilia‐causative inversions involving int22h and int1h hotspots from chorionic villus samples

., 2008). The use of this method will facilitate anal-ysis of both inversions, although side-by-side analysisof Inv22 and Inv1 from the fetus sample is restricted toexceptional circumstances (outlined below).The aim of this report is to analyze the ability ofthe method of IS-PCR for PND on DNA extractedfrom chorionic villus (CV) samples. Because humangenome sequences are openly available in the web,specific IS-PCR approaches can be easily designed forgenotyping virtually any full-defined structural variants,thus providing a powerful tool to investigate otherdisease causative rearrangements from CV samples.In 2002, a pregnant carrier of HA, mother of a severeHA patient, whose Inv22 mutation had been identifiedin our laboratory, came to our attention for PND. Duringher twelfth week of gestation, a CV sample was obtainedand gender analyzed by karyotyping, indicating that thefetus was a female. The direct mutation identificationwas then attempted by Southern blotting (Lakich