Sietske N. Heyn is a medical writer with a PhD in neuroscience. Dr. Heyn's education includes a BS with honors from the University of Oregon, and a doctoral degree in neuroscience from the University of California at Davis. After completing postdoctoral training at the University of California, San Francisco, and many years of working as a medical writer at the Stanford University Center for Down Syndrome Research, Dr. Heyn now runs her own medical writing business.
Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
Diagnosis of Down syndrome before birth can be very useful. Parents can learn
about Down syndrome before the arrival of their baby and prepare accordingly;
assess immediate medical needs such as heart and gastrointestinal conditions.
screening (AFP) is the most widely used test to
screen for Down syndrome. A small blood sample is taken from the mother between
15 and 20 weeks of pregnancy. The levels of AFP as well as three hormones called
unconjugated estriol, human chorionic gonadotropin, and inhibin-A are measured
in the blood sample. Altered levels of AFP and the three hormones can indicate
Down syndrome. A normal test result does not exclude Down syndrome.
Shortened humerus (arm bone) or femur (leg bone) length measured via
ultrasound, detects about 31% of Down syndrome cases.
Several invasive diagnostic tests reliably detect Down syndrome. Most of
these procedures carry a small risk of pregnancy loss.
Amniocentesis is usually performed between 16 and 20 weeks of pregnancy. A
needle is inserted through the abdominal wall and a small sample of amniotic
fluid is collected for analysis.
Chorionic villus sampling (VCS) is another reliable test to detect
chromosomal abnormalities such as Down syndrome. The main advantage over
amniocentesis is that it can be done earlier, usually between 11 and 12 weeks of
In percutaneous umbilical blood sampling, fetal blood is collected from the
umbilical cord and examined for chromosomal abnormalities such as Down syndrome.
It is performed after 17 weeks of pregnancy.
Fluorescent in situ hybridization (FISH analysis) can be done quickly to
determine how many copies of a particular chromosome are present. This test is
usually performed on the same sample taken from blood, during amniocentesis, or