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Prenatal Screening

Prenatal screening evaluates the risk of certain chromosome abnormalities prior to delivery. Certain groups of patients are at a higher risk for chromosome abnormalities including patients: of Advanced Maternal Age (anyone over the age of 35 at the time of delivery); with a history of a baby with a chromosome abnormality; or an abnormal ultrasound.

ACOG (American College of Obstetrics and Gynecology) recommends offering screening to all patients and it is up to each family to decide if screening is right for them. Families may consider screening to alleviate fears, to better prepare for a child with medical complications, or possibly for termination.

What is Down Syndrome?

Down syndrome is a chromosomal disorder, which causes physical and mental retardation and birth defects and may involve the heart and/or digestive tract. The degree of physical and mental retardation for individuals affected by Down syndrome varies greatly. Down syndrome affects approximately one in every 800 babies. 

What is Trisomy 18?

Trisomy 18 is a more severe chromosomal disorder that causes profound mental retardation and multiple birth defects. Dew trisomy 18 babies live loner than one-year, though some do survive into childhood. Like Down syndrome, the chance the have a pregnancy with Trisomy 18 increases with maternal age.

What is Trisomy 13?

Trisomy 13 is a chromosomal condition that occurs in about 1 in 16,000 newborns associated with severe intellectual disability and physical abnormalities in many parts of the body.  Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities and many other abnormalities.  Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life.  Only 5% to 10% of children with this condition live past their first year.