Down Syndrome & Other Chromosomal Abnormalities Screening
One topic that will be discussed with you at your first pregnancy appointment is optional screening tests for Down Syndrome and other chromosomal abnormalities. Down Syndrome (or Trisomy 21) is caused by a genetic mutation that increases in frequency as a woman ages, especially in women over 35. It can cause mental retardation and heart problems, among other effects. It is not a curable condition, but many people with this condition live well into adulthood. New technology has improved the methods of detection of these abnormalities. Screening tests have been developed to try to identify those pregnancies at high risk. These pregnancies are then candidates for further diagnostic testing. Diagnostic testing is also a first-line option for women over 35.
Your provider will discuss various testing options with you. The goal of a screening test is to estimate the risk of the fetus having Down Syndrome and a few other abnormalities. Screening tests are easy to do, and pose no risk to the pregnancy; however, there are false positives and false negatives that occur.
The Integrated Screen consists of an ultrasound around 12 weeks, and blood draws around 12 and 16 weeks. The ultrasound is used to measure a part of the fetus’s neck that may be abnormal if Down Syndrome is present. There is no risk to the fetus. The detection rate of Down Syndrome using the Integrated Screen is 92%, with a 3% false positive rate. This same test also screens for Trisomy 18, which has a detection rate of 90%, with a 0.1% false positive rate, and neural tube defects (like spina bifida), which has a detection rate 65-80%, with a 1-3% false positive rate.
If you would like to find out if your insurance covers either of these tests, please call your insurance provider. They will ask you for the CPT codes for the Integrated Screen; those codes are 84163, 82105, 84702, 82677 and 86336.
Cystic Fibrosis Carrier Screening
An optional blood test you will be offered at your first appointment is for Cystic Fibrosis carrier screening. Please read the information below to decide whether you would like this test done.
Cystic Fibrosis (CF) is an inherited disease that is passed from parents to their children. This can occur even when neither parent has the disease. For a child to inherit CF, both parents must have an altered gene that causes CF (a CF carrier). CF carrier screening tells you whether you carry an altered CF gene, or what your chance is of having a child born with CF. If it is determined that you are a carrier of CF, we encourage the baby's father to be tested. If both of you are carriers, there is a risk of your child having the disease.
CF causes the body's mucus to be thick and sticky, which causes problems in the lungs, digestive system, and reproductive tract. Symptoms can range from mild to severe. CF can be treated, but not cured. Half of the people born with CF die by the age of 30, primarily from lung disease.
CF occurs most often in people whose ancestors come from Northern and Western Europe (1 in 3300 live births). People of other ethnic groups also have CF, but it is more rare; for instance 1 in 8400 Hispanic Americans, 1 in 14,000 African Americans, and only 1 in 32,400 Asian Americans.
If you would like to find out if your insurance covers this testing, please call your insurance provider. They will ask you for the CPT codes, which are 83891, 83900, 83901, 83909, 83912 & 83914. The diagnosis codes for this testing are V22.2 & V77.6.