Genetic and Metabolic Conditions

The Stanford Medicine Children’s Health Fetal and Pregnancy Health Program provides comprehensive evaluation and management of genetic and metabolic conditions. Our program brings together specialists in maternal-fetal medicine, genetics, cystic fibrosis, and endocrinology, along with neonatology, pediatric radiology, and pediatric surgery experts, to provide multidisciplinary prenatal and postnatal management of fetal genetic and metabolic conditions.

What are genetic and metabolic conditions?

Genetic and metabolic conditions can occur when a gene or group of genes is changed from what is expected; this can create differences in how the body develops or how the body processes energy. A metabolic disorder affects the way the body breaks down food, absorbs nutrients, or handles enzymes.

There are many different genetic and metabolic conditions. They may run in families, or parents may know that they are both carriers of gene differences, which increases risk of the condition in their babies.

How do you diagnose genetic and metabolic conditions?

Many genetic and metabolic conditions can be diagnosed prenatally with genetic testing. Some genetic conditions like cystic fibrosis, spinal muscular atrophy, and metabolic conditions like severe ornithine transcarbamylase (OTC) deficiency—a rare genetic condition where ammonia builds up in the blood—may benefit from specialized expert care and treatment like what we offer here in our program, both before and after delivery.

What does having a genetic or metabolic condition mean for my child?

It depends on your child’s particular condition. Some genetic or metabolic conditions may not affect your child much at all, while others can have serious health consequences if left untreated. Some will require lifelong care, while others may simply require diet or lifestyle changes to live a healthy life.

How does the Lucile Packard Children’s Hospital Stanford team typically treat genetic and metabolic conditions?

Treatment is tailored to your child and their condition. In addition to neonatologists and maternal-fetal medicine specialists, genetic and metabolic specialists are part of your multispecialty care team, who together may recommend specialized treatment before and during delivery to stabilize metabolic conditions. In addition, research in our Fetal and Pregnancy Health Program is advancing new prenatal treatments and approaches. After delivery, recommendations for your child’s treatment and monitoring will be dependent on condition.