Down syndrome screening
About
Down syndrome (an extra 21st chromosome) occurs with a frequency of 1 in 700 live births. Non-invasive methods, such as ultrasound and the measurement of biochemical markers in the mother's blood, can successfully identify pregnant women who require further confirmation to determine if Down syndrome is indeed present. A definitive diagnosis is made only after analyzing fetal cells obtained through amniocentesis.
Candidate
Every pregnant woman should decide in consultation with her gynecologist whether to undergo some form of Down syndrome screening during pregnancy. Combined ultrasound and biochemical screening is performed in the first trimester of pregnancy (from the 11th to the 13th week of pregnancy) and successfully detects 85 to 90% of pregnancies with an extra 21st chromosome, with a 5% rate of false-positive results.
Preparation
Both the ultrasound scan and the biochemical screening (blood test) should be performed during a specific period of pregnancy, from 11+0 to 13+6 weeks. Typically, the pregnant woman first undergoes the ultrasound scan during which the gynecologist fills out the form. Within a few days of the scan, the woman should have her blood drawn. The interval between the ultrasound scan and the blood draw should not be too long to ensure that the biochemical screening is completed within the 13+6 weeks timeframe.
Treatment
The ultrasound screening is performed by a gynecologist and includes measuring the nuchal translucency (nuchal fold) and determining the gestational age by measuring the crown-rump length (CRL) of the fetus. The biochemical screening involves measuring the concentrations of two markers (free beta-hCG and PAPP-A protein) in the pregnant woman’s blood. Blood is drawn from a vein. The final ultrasound and biochemical data are combined in a program to calculate the combined risk.
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