GENETIC SCREENING OPTIONS

This is a screening blood test available for women with an increased risk for fetal chromosomal* abnormalities. These risk factors include:

• Advanced maternal age (women age 35 and older at time of delivery)
• Personal or family history of a chromosomal abnormality
• An abnormality seen on ultrasound, or a positive blood test during the current pregnancy

This screen detects an increased amount of chromosomal material circulating in the mother's blood. Your blood can be drawn as early as 10 weeks. It does screen for an increase in chromosomes 21, 18, and 13. It also can detect the gender of baby. It does not screen for all chromosomes. The result of this screen is available within 7-10 days after it is drawn.

The detection rate of the NIPS is up to 99% for Trisomy 21, 18, and 13. An additional blood test is performed at 16 weeks to check for neural tube defects (spina bifida). A positive screen can be confirmed with an amniocentesis or CVS testing. This screen is non-invasive and carries no risk to mother or baby.

Billing code 81420
Quest code 92777
List price $2,762.00
Performing lab: Quest Diagnostic Nichols Institute

The sequential screen is a common genetic screening tool used for all women, regardless of their genetic risk. This screening option can determine the risk of Down syndrome, Trisomy 18 and open neural tube defects. It is a two part screen. The result of this test is available within 7 days after both parts are completed.

• Part 1: Nuchal ultrasound (measures the skin fold in the back of the baby's neck) and blood work performed between 11 weeks and 1 day to 13 weeks and 6 days of pregnancy
• Part 2: Blood work performed at approximately 16 weeks of pregnancy

The detection rate of the sequential screen is 89% for Down syndrome, 88% for Trisomy 18, and 85% for neural tube defects. If the result is abnormal, then genetic counseling and diagnostic testing will be offered, including amniocentesis and CVS. Sequential screening is non-invasive and carries no risk to mother or baby.

Billing codes 84163, 82677, 82105, 86336, 84702, 76813
List price $370.00
Performing lab: Foundation for Blood Research, Coastal Women's Healthcare.

Integrated screening tests use both first and second trimester markers to adjust a woman's age related risk of having a child with Down Syndrome. The first maternal blood draw occurs between 11 and 13 weeks gestation and is tested for PAPP-A, the second test occurs between 15 and 20 weeks gestation and is tested for AFP, estrol, hCG and inhibin. This test can be used with or without nuchal translucency measurement. The results are only reported after both the first and second trimester screening tests are completed. This test has an approximate detection rate of 90% for Down Syndrome, 89% for Trisomy 18, 85% for neural tube defects and a false positive rate of 3% for Down Syndrome.

The result will be reported in approximately 7 days following the completion of the second part of the test. This test is useful for patients without access to nuchal translucency or for whom a reliable measurement cannot be obtained.

Billing codes 84163, 82677, 82105, 86336, 84702
List price $130.00
Performing lab: Foundation for Blood Research

This is an early and reliable Down Syndrome and Trisomy 18 risk assessment. Multiple studies have confirmed that increased NT (Nuchal Translucency - an ultrasound that measures the skin fold on the back of the fetal neck) and maternal serum markers are associated with Down Syndrome. The fetal NT and serum sample of maternal biochemical measurements determine if there is an increased risk for Down Syndrome or Trisomy 18. The detection rate between 10 weeks 3 days and 13 weeks 6 days gestation is 86% with a false positive rate of 5% for Down Syndrome.

A result will be reported within 7 days of submission.

Billing codes 84163, 82105, 86336, 84702, 76813
List price $335.00
Performing lab: Foundation for Blood Research, Coastal Women's Healthcare

This is a screening blood test that measures the level of AFP in the mother's blood during pregnancy. AFP is a protein normally produced by the fetal liver and is present in the amniotic fluid, crossing the placenta and into the mother's bloodstream. Abnormal AFP can be a sign of fetal defects such as, Open Neural Tube Defects, Down Syndrome, defects in the abdominal wall of the fetus or other chromosomal abnormalities. It can also be a sign of twins, placental issues and a miscalculated due date as AFP levels vary during the pregnancy. It is not as accurate as the sequential screen with Nuchal Translucency, but can be offered to women who did not have or were not able to have the first trimester part of the sequential screen. The detection rate is approximately 81% for Down Syndrome, 68% for Trisomy 18 and 80% for Neural Tube Defects. AFP is collected by maternal serum between 15 and 18 weeks gestation.

The results will be reported in approximately 7 days.

Billing code: 82105
List price: $45.00
Performing lab: Foundation for Blood Research

This is a diagnostic procedure performed at Maine Medical Center's Maternal Fetal Medicine between 15 and 20 weeks of pregnancy to detect birth defects. A needle is inserted through the abdomen to take a sample of the fluid surrounding baby (amniotic fluid). This sample contains chromosomes and other materials that are used to diagnose chromosomal abnormalities, genetic birth defects, and open neural tube defects. Amniocentesis cannot detect autism, cleft lip, and most heart defects. This is an invasive test, and risks include cramping, bleeding, infection, and very rarely miscarriage. Preliminary results may be available within 24 to 48 hours; final results are available within 10 to 14 days.

This is a diagnostic procedure performed at Maine Medical Center's Maternal Fetal Medicine between 10 and 13 weeks of pregnancy to detect birth defects*. A small sample of cells is taken from the membrane covering the gestational sac (chorion). This sample is collected through the vagina with a catheter. This sample contains chromosomes and other material that are used to diagnose chromosomal abnormalities, genetic birth defects, and other conditions. CVS cannot detect open neural tube defects, autism, cleft lip, and most heart defects*. This is an invasive test, and risks of this procedure include cramping, bleeding, infection, and very rarely miscarriage. Preliminary results may be available within 2 days, and final results are available within 10 to 14 days.

This is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. This gene makes the body produce thick mucus in the lungs. This mucus promotes infections that are often life-threatening. In the pancreas, similar thick secretions can lead to serious problems with food absorption. People with CF usually survive into their 30's.

Cystic Fibrosis Testing is a single blood drawn performed to determine if an individual is a carrier for cystic fibrosis. If one partner tests positive as a carrier for CF, then the other partner should be tested, as both parents have to be carriers of the gene to have a child with CF.

Billing code: 81220
List price: $350.00
Performing lab: Foundation for Blood Research