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Genetic Testing

Comprehensive risk assessments

Genetic testing can provide you with important information about your baby’s health. About Women Ob-Gyn offers comprehensive prenatal genetic testing options. Your doctor will assess what risks could affect your pregnancy based on your age, medical history, and other factors, and discuss testing options that are relevant to you.

For some genetic tests, the procedure itself may involve risks, such as the potential for false positives or a slightly increased risk of miscarriage. Your clinician can help you evaluate the risks and benefits of genetic testing.

The following required and optional genetic testing services are available at About Women Ob-Gyn.

Optional Prenatal Genetic Testing

FIRST TRIMESTER SCREENING

Timing: 11-13w6d
Description: This test gives an estimated risk for Down Syndrome (Trisomy 21), Trisomy 13 and 18 (severe chromosomal abnormalities). This has a 90-95% detection rate with a 5% false positive rate. This test includes the following:

  • Nuchal Translucency (NT): Specialized ultrasound to measure thickness of back of fetal neck (Insurance Code: CPT 76813)
  • Maternal blood test that includes biochemical markers (Insurance Code: CPT 84163, 84702, 86336)

QUAD SCREEN

Timing: 15-21w6d
Insurance Code: CPT 82105, 82677, 84702, 86336
Description: This is a maternal blood test to check four biochemical markers that reports the risk of Down Syndrome (Trisomy 21), Trisomy 13, Trisomy 18 and Spina Bifida (Neural Tube Defect).

SINGLE AFP

Timing: 15-21w6d
Insurance Code: CPT 82105
Description: Single maternal blood test to check risk for Spina Bifida alone. This test is only performed for patients who elect the first trimester screening or only want to screen for this single condition.

FRAGILE X

Insurance Code: CPT 81244
Description: Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity.

SPINAL MUSCULAR ATROPHY CARRIER TESTING (SMA)

Insurance Code: CPT 81401
Description: Carrier testing for patients in the general population, patients with a family history of SMA, patients planning a pregnancy or are already pregnant. Prenatal diagnosis for at-risk pregnancies, when both parents are carriers or when severe joint contractures are found on fetal ultrasound.

MATERNIT 21 PLUS

Timing: 10+ weeks
Insurance Code: CPT 81420
Description: This is a NON-INVASIVE maternal blood test that detects fetal DNA fragments that can determine specific chromosomal abnormalities (Trisomy 21,18, and 13). Candidates for this test include:

  • Advanced maternal age (>35)
  • Previous pregnancy affected by chromosomal abnormality
  • Abnormal genetic screening test or sonogram findings during this pregnancy
  • Maternal chromosomal abnormality (e.g. balanced Robertsonian Translocation)

INHERITEST PANEL (SMA, CF AND FRAGILE X)

Insurance Code: CPT 81401, 81220, 81244
Description: SMA – Carrier testing for patients in the general population, patients with a family history of SMA, patients planning a pregnancy or are already pregnant. Prenatal diagnosis for at-risk pregnancies, when both parents are carriers or when severe joint contractures are found on fetal ultrasound. CF – is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers. Fragile X – syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity.

Contact LabCorp (integratedgenetics.com/transparency or call 844.799.3243) and they will check your insurance out-of-pocket cost for the Inheritest Panel and compare to their PEP program which can cost as little as $299.

Required Prenatal Screenings

As these screenings are required, per ACOG guidelines, you can check with your insurance company to see what your out-of-pocket costs may be. These tests are required for your first pregnancy or your first pregnancy with our practice, unless you have documentation from a previous screening.

HEMOGLOBIN ELECTROPHORESIS

Insurance Code: CPT 83020
Description: A blood test that measures different types of a protein called hemoglobin in your red blood cells. It’s sometimes called “hemoglobin evaluation” or “sickle cell screen.”

CYSTIC FIBROSIS (CF 97)

Insurance Code: CPT 81220
Description: ACOG recommended – CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.

Obstetric Services

About Women Ob-Gyn is committed to providing you with high-quality care at each stage of your pregnancy, including: