Objective To investigate a procedure for genetic counseling and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia (XLHED) by mutation detection in a family with XLHED. Method Collected the peripheral blood and fetal amniotic fluid cells, EDA gene were amplified with polymerase chain reaction (PCR) technique and directly sequenced. Results Pregnant women appear for EDA gene 7 extra child c. 871 g > A hybrid mutation, the proband and fetus are 7 extra EDA gene show son c. 871 g > A homozygous mutations. Conclusions In this family, EDA gene 7 extra child c. 871 g > A mutations detection lead to XLHED, EDA gene mutation detection can make prenatal diagnosis for the XLHED.
