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Your health care provider may order the Quad screen, a simple blood test. Other laboratory testing may also be ordered such as a complete blood count to test for the presence of anemia.
The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women be offered a screening test for Down syndrome, regardless of the woman’s age. Screening may be a maternal blood test done in the first trimester along with ultrasound, or it can be a maternal blood test done in the second trimester without ultrasound, or a combination of both. ACOG also recommends that all pregnant women be offered invasive diagnostic testing by chorionic villus sampling (CVS) or genetic amniocentesis, regardless of age. These procedures obtain cells/tissue that allow for highly accurate diagnosis of Down syndrome or other genetic variations. However, CVS and amniocentesis are invasive and carry a small risk of causing a miscarriage. Noninvasive Testing for Women at Increased Risk for Chromosome Abnormalities A noninvasive blood test is now available for women with increased risk indicators for fetal chromosome variations. This test detects an increased amount of DNA material (mother and baby) that is circulating in your blood. This can predict a chromosomal abnormality such as Down syndrome (trisomy 21) in your baby. The increased risk factors include one or more of the following:
Amniocentesis, or CVS (chronic villus sampling) may be performed on many factors, please discuss with yor health care provider. This is a procedure in which a small sample of amniotic fluid is drawn out of the uterus through a needle inserted in a pregnant woman's abdomen. The fluid is then analyzed to detect genetic abnormalities in the fetus or to determine the gender of the fetus.
Read about baby care.