Prenatal testing is available for most important birth defects.  When optimally performed and interpreted by experts, ultrasound can both "screen" for a variety of major defects and can also make a specific diagnosis.  Therefore, ultrasound can be considered both a screening test for a number of abnormalities, and also a diagnostic test for some of those conditions. For example, at experienced centers, ultrasound can detect all significant spinal defects with no false positive readings and is therefore considered diagnostic for for significant spinal defects (spina bifida). Similarly, ultrasound can be diagnostic for a number of other structural defects including cleft lip/palate, significant clubfeet, body wall abnormalities, major urinary abnormalities, and major heart defects. For these and other major structural abnormalities, ultrasound is the best screening test and also a diagnostic test at experienced centers.

For other types of defects - particularly Down syndrome - screening tests such as ultrasound may not be diagnostic themselves but can help identify those patients at highest risk who might consider a diagnostic test. Diagnostic tests can tell with certain whether a fetus has  Down syndrome with certainty but provide limited information about other types of birth defects.   To learn more about screening tests and birth defects, you might also visit www.fetalscreening.com


The two diagnostic tests for Down syndrome and other chromosome abnormalities  are:
  • Genetic amniocentesis (14-20 weeks) or
  • Chorionic villus sampling or CVS (10-13 weeks)
These diagnostic tests can tell whether a fetus has Down syndrome with nearly 100% accuracy. However, this certainty comes with a potential price.  These tests are “invasive” and require sampling either the amniotic fluid or the placenta with a needle.  Although the risk is small, approximately 1 in 200 babies will be lost as a result of genetic amniocentesis and 1 in 100 will be lost as a result of CVS. Also, neither test can test for the majority of birth defects associated with normal chromosomes.  


Screening tests use maternal age, fetal ultrasound, and/or maternal blood proteins to identify those patients at highest risk for fetal Down syndrome and who could benefit from a diagnostic invasive test.

Maternal Age. The oldest screening "test" is maternal age, based on the fact that the risk of major chromosome abnormalities increase with age.  A rather arbitrary cutoff of 35 years is commonly used.  Maternal age alone is not an effective screening test since it results in detection of less than half of all fetuses with Down syndrome, and many normal fetuses undergo needless invasive testing.  However, maternal age can be effectively combined with ultrasound and/or biochemistry .  Also, women aged 35 or older have the option of a diagnostic test (genetic amniocentesis) based on age alone.  To see the risk of fetal Down syndrome based on maternal age alone, click here.  

Combined First Trimester Screen for Fetal Aneuploidy (10-14 weeks)  A new screening test, the Combined First Trimester Screen for Fetal Aneuploidy, has a detection rate of 80-90% for fetal Down syndrome.  It can also help to identify fetuses at an increased risk of other types of birth defects, such as heart defects.  This test can be performed earlier in pregnancy (10-14 weeks) than other screening methods.  This test combines measurements of two hormones (free beta HCG and PAPPA) from the maternal blood, together with the maternal age and ultrasound measurements (nuchal translucency and crown-rump length) to calculate an overall risk for fetal Down syndrome as well as trisomy 18. For additional information on first trimester screens, you can download an informational pamphlet that was co-authored by Dr. Nyberg.

Maternal biochemistry (15-20 weeks)   The first protein routinely measured in the maternal blood was AFP (alpha-fetoprotein).  High AFP levels were originally used to identify fetuses at risk for neural tube defects.  In 1984 it was discovered that low AFP levels may help identify fetuses with Down syndrome.  The blood test, sometimes still called the "AFP test", evolved by 1990 into the so-called “triple screen”, since it tested 2 other blood proteins.  More recently the maternal blood screen has evolved nto the “quad screen” because a fourth marker was also found to be useful.  These tests are usually performed at 15-20 weeks of pregnancy by taking a blood sample at your doctors office.  The triple screen can detect about 65% of cases of Down syndrome, and the quad screen can detect 70-75% of cases.

Genetic Sonogram or Detailed Fetal Survey (15-20 weeks). During the 1980s and 1990s, improvements in prenatal ultrasound developed in parallel with maternal biochemistry.  Second trimester ultrasound can look for a variety of subtle differences between normal fetuses and those with Down syndrome as part of a so-called “genetic sonogram”.  A carefully performed genetic sonogram can detect 50-70% or perhaps even more of cases of fetal Down syndrome when performed at experienced centers.  Even more importantly, a carefully performed second trimester sonogram can detect the majority of important birth defects associated with normal chromosomes and so  would not be detected by amniocentesis.  For example, ultrasound can detect nearly all neural tube defects whereas AFP screening detects 80-90% of neural tube defects.  The detailed fetal anatomic survey might be considered the "baby's first physical exam" because it is performed much like a physical exam, from "head to toe".  It can actually detect some types of abnormalities that would not be suspected by the usual physical exam after birth, although many other birth defects- usually minor- will be detected by the physical exam after birth but not the ultrasound survey.