Classical forms of congenital adrenal hyperplasia are caused by a severe deficiency of 21-hydroxylase, an enzyme involved in steroid biosynthesis, which triggers excessive androgen production before ...

Emily H. Adhikari, MD, discusses a clinical practice algorithm designed to help clinicians evaluate patients for syphilis.

Prenatal screening empowers expectant parents with vital knowledge that helps them make informed decisions during a delicate phase of life. Not just intellectual disabilities Down Syndrome can also le ...

A new Points to Consider document from the ACMG aims to assist referring physicians, laboratory geneticists, genetic counselors and other medical professionals in understanding the complexity and ...

A study has shown that prenatal diagnosis, or diagnosis before a baby is born, is associated with earlier surgery for babies with congenital heart defects, the most common birth defects affecting ...

Dizon shared that timing is crucial when looking at pregnancy and breast cancer. Patients with breast cancer should avoid unplanned pregnancy and wait for two years from the time of diagnosis to try ...

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

A study from Ann & Robert H. Lurie Children's Hospital of Chicago has shown that prenatal diagnosis, or diagnosis before a baby is born, is associated with earlier surgery for babies with congenital ...

For first-time moms or women who have high-risk pregnancies, the idea of prenatal testing can be scary and overwhelming. Dr. Myra Wick of the Mayo Clinic shares some of the most important questions ...