Three pathogenic variants in two fetuses were revealed by trio-WES, namely HPGD and EVC2. In one fetus with SA, the WES results revealed an autosomal recessive inheritance mode of EVC2. The complex heterozygous mutation of EVC2 which was inherited from the father and mother, led to Ellis-van Creveld Syndrome. Here, EVC2 is linked to Ellis-van Creveld syndrome.