Diagnosis

Evaluating a Child for Birth Defects

Choose a preferred language

Click on the link below to learn more about this topic.

Medical History and Genetic Testing

Featured in

© 2000-2026 The StayWell Company, LLC. All rights reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.
stethoscope icon

Personalized care starts with the right provider

Search by specialty, location, and more.

FIND A DOCTOR
Related Articles
Read article
Genetic and Congenital Conditions
Medical Genetics: How Genetic Testing Is Used

Genetic testing can help find diseases that run in a family or don't yet have symptoms.

Read article
Genetic and Congenital Conditions
Trinucleotide Repeats: Fragile X Syndrome

Detailed information on trinucleotide repeats, including fragile X syndrome.

Read article
Genetic and Congenital Conditions
Medical Genetics: Gene and Enzyme Replacement Therapy

Gene therapy is a way to change the genes a person has. Enzyme therapy treats a genetic condition by replacing a certain enzyme.

Read article
Genetic and Congenital Conditions
Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease

Overview of autosomal recessive inheritance, including cystic fibrosis, sickle cell anemia, and Tay Sachs disease.