Both pregnancies underwent molecular testing via amniocentesis, and one fetus was confirmed to have a pathogenic hemizygous SRY exon 1 deletion consistent with Swyer syndrome, while the other was positive for a hemizygous novel pathogenic variant (c.2461G>T, p.G821W) in the AR gene consistent with AIS. This evidence concerns the gene AR and 46,XY complete gonadal dysgenesis.