Genetic Syndromes

Genetic syndromes are caused by an abnormality in the genome, such as a missing or extra piece or copy of a chromosome or an error in the DNA. These syndromes and the impact of their associated abnormalities can vary greatly, and often require additional medical attention at the time of delivery.

The Cardinal Glennon St. Louis Fetal Care Institute has an on-site dedicated prenatal genetic counselor. Our genetic counselor and the team of SLUCare Physician Group specialists have the experience and technology to accurately prenatally diagnose these syndromes, as well as assist the family in preparing for delivery and beyond.

Genetic Testing

Using the newest, most advanced genetic testing tools, combined with years of experience, the team at Cardinal Glennon St. Louis Fetal Care Institute are able to have an unprecedented look at a baby before it is even born, and provide life saving treatments.

Fetal Genetic Diagnoses We Treat

• 22q deletion syndrome (DiGeorge syndrome) - This is a genetic condition in which a small portion of chromosome 22 is deleted or missing.
• Monosomy X (Turner syndrome) - This syndrome happens only to females. In most cases, females have two "X" chromosomes; however the affected individual might have only one or a missing piece of the second.
• Prune Belly Syndrome (Eagle-Barrett Syndrome) - Most often occurring in boys, babies born with this condition have poorly developed or missing abdominial muscles, undescended testicals (males), and an expanded bladder.
• Skeletal dysplasias (e.g. achondroplasia, osteogenesis imperfecta, thanatophoric dysplasia, etc.) - A class that encompasses more than 400 disorders with a variety of structural findings. 
• Trisomy 13 (Patau syndrome) - This syndrome happens when a person has three copies of chromosome #13 instead of the usual two, for a total of 47 chromosomes.
• Trisomy 18 (Edwards syndrome) - This condition is caused when a person has three copies of chromosome #18 instead of the usual two.
• Trisomy 21 (Down syndrome) - This condition is caused when an individual has three copies of chromosome #21 instead of the usual two.