TXNDC15 and Meckel syndrome, type 1: Here, we report a case of MKS diagnosed through fetal ultrasound diagnosis in which whole‐exome sequencing of fetal tissue and parental peripheral blood revealed the homozygous NM‐024715.3c.560delA (p. Asn187llefsTer4) mutation in the TXNDC15 gene in the fetus and the same heterozygous mutation in both parents.