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Optional Screening
for Genetic Abnormalities

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Non-Invasive Optional Genetic Testing

Almost all babies are born healthy in the United States, however 2 or 3 out of every 100 babies are born with a major birth defect.

Carrier Testing

Carrier Testing is a blood test on the woman that may be done prior to or during pregnancy. These tests are a screening tool for some common inherited disorders. The most common of these are Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA) and Fragile X.

  • CF primarily involves the respiratory, digestive and reproductive systems.  Symptoms may be mild to severe. If the woman tests positive as a carrier, then the father would be tested. If both parents test positive as carriers, there is about a 25% chance of having a child with CF.

    All newborns in the state of WI are mandated to have a Newborn Screen blood test before discharge from the hospital. This screening does include CF.

  • SMA is a disorder involving the destruction of nerve cells that affect voluntary muscle movement. If the woman tests positive as a carrier, then the father would be tested. If both parents test positive as carriers, there is about a 25% chance of having a child with SMA.

  • Fragile X is a syndrome that mainly involves developmental delay and intellectual disability. If the woman tests positive as a carrier, there is up to a 50% chance of having a child with Fragile X syndrome.

If you are interested in having Carrier testing, you will let your MD know at that first office visit.

The test that we use is called Inheritest-Society Guided. It screens for the 3 disorders of CF, SMA and Fragile X along with several others. Integrated Genetics does the screening test for Moreland OB/GYN. Because this test is optional, it is VERY IMPORTANT that you call this phone number, 844-799-3243PRIOR to your first MD appointment and before you have this test done. They will discuss with you any out of pocket costs in addition to checking your insurance coverage. Please enroll in their discounted program, “Moms Helping Moms of Tomorrow”, even if you are undecided about getting tested.

Screening/Risk Assessment Testing

There are 2 Screening/Risk Assessment Test options looking for Chromosomal Abnormalities in Baby that are done in the First Trimester of Pregnancy.  Of the two options, only one test option would be  performed. 

First Trimester Screen Test

First Trimester Screen Test is a combination of a blood test (Nuchal) on the mother and a specialized (Nuchal) ultrasound on baby. These both need to be done between 11 weeks 6 days & 13 weeks 6 days of the pregnancy. Results of this test give an estimated risk for 3 abnormalities: Trisomy 21-Down Syndrome is the most commonly occurring chromosomal abnormality which results in physical, developmental and intellectual problems. May range from mild to severe. About 96% of cases are detected with this test. Trisomy 18-Edwards Syndrome is the second most common chromosomal abnormality which results in developmental problems along with deformities of the organs. About 95% of cases are detected with this test. Trisomy 13-Patau Syndrome is associated with severe mental and physical problems. About 95% of cases are detected with this test.

You will need to know, PRIOR to your first office visit with the MD, what your financial responsibility will be before having the test. Below are codes that will help determine your insurance coverage.

This test is optional therefore you will need to check with your insurance for coverage information and cost to you if you choose to have this done. Here are the codes that will help determine your insurance coverage. 
Nuchal Blood Test CPT codes are 84704, 84163, 36415.
Nuchal Ultrasound CPT code 76813. 
Diagnosis Codes for the above tests Z34.9 pregnancy, O09.5 pregnancy age 35 or over, O09.291 pregnancy with a history of prior pregnancy with a Trisomy defect. 
Moreland OB/GYN uses NTD Laboratories for this Nuchal Screening.

MaterniTi 21 Plus

MaterniTi 21 Plus is a free cell DNA test that requires only a blood draw on the mother. This test may be done any time after 10 weeks of pregnancy. It measures the relative amount of chromosome material in the maternal blood sample. It is screening for chromosomal abnormalities in baby such as Trisomy 21, 18, 13, 16, 22 along with 5 other syndromes related to gender and 7 microdeletions. This test has about a 99% detection rate.

If you are interested in having the MaterniTi 21 test, you will let your MD know at that first office visit.

Integrated Genetics does the screening test for Moreland OB/GYN. Because this test is optional, it is VERY IMPORTANT that you call this phone number, 844-799-3243, PRIOR to your first MD appointment and before you have this test done. They will discuss with you any out of pocket costs in addition to checking your insurance coverage. Please enroll in their discounted program, “Moms Helping Moms of Tomorrow”, even if you are undecided about getting tested.

Alpha-fetoprotein (AFP)

There is a screening test available in the Second Trimester called Alpha-fetoprotein (AFP).

AFP is a blood test done on the mother between 15 weeks and 20 weeks 6 days of pregnancy. This test is screening for neural tube defects such as Spina Bifida. If the level of AFP is elevated, there is an increased risk of having a child with a neural tube defect. The rate of detection for this is about 80-85%.

If you choose to have this optional test performed, you will need to contact your insurance regarding coverage. You will need to know PRIOR to your first office visit with the MD what your financial responsibility will be before having this test. Below are codes that will help determine your insurance coverage.  The CPT code for AFP testing is 82105.  Diagnosis codes are Z34.9 pregnancy, O09.5 pregnancy age 35 or over.

If you choose to have any of these genetic screening tests and have a positive result, your physician will discuss with you in detail what the next steps would be. Any further testing could be invasive such as Chorionic Villus Sampling (CVS) or Amniocentesis depending on how far along the pregnancy is.

Test Names

CPT Code(s)

Diagnosis Code(s)

MaterniT21 

81420

81422

Z34.90 (pregnant)

009.5 (pregnant, advanced maternal age; 1st, 2nd, 3rd trimester)

009.291 (prior pregnancy with trisomy)

Inheritest Society Guided (Includes all three carrier tests CF, SMA, Fragile X)  81412

Z31.430 (not pregnant)

Z34.90 (pregnant)

Cystic Fibrosis
(This carrier test only)

81220

Z31.430 (not pregnant)

Z34.90 (pregnant)

Fragile X
(This carrier test only)
81243

Z31.430 (not pregnant)

Z34.90 (pregnant)

Spinal Muscular Atrophy (SMA)
(This carrier test only)

81401

Z31.430 (not pregnant)

Z34.90 (pregnant)

Nuchal Blood Test

84704

84163

36415

Z34.90 (pregnant)

009.5 (pregnant, advanced maternal age; 1st, 2nd, 3rd trimester)

009.291 (pregnant, prior pregnancy with trisomy)

Nuchal Ultrasound

76813

Z34.90 (pregnant)

009.5 (pregnant, advanced maternal age; 1st, 2nd, 3rd trimester)

009.291 (pregnant, prior pregnancy with trisomy)

 

 

 

 

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