Types of Prenatal Genetic Screening Tests and Where to Get Screened

What Are the Different Types of Prenatal Genetic Screening Tests?


At our practice, we regularly provide prenatal genetic screening to expectant parents. These tests are generally quick, painless, and provide important information about your growing baby. Are you wondering what types of prenatal genetic screening tests are typically performed? We will describe below what to expect from prenatal genetic screening.

Once you’ve learned about types of prenatal genetic screening tests, you can book an appointment at our practice. At NuWave Women’s Health, Dr. James Duerkes takes a modern approach to women’s health care and obstetric care.

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What is the Purpose of Prenatal Screening Tests?


Prenatal screening lets parents-to-be know if their baby has a chance of developing certain genetic disorders. There are many disorders that are possible for a baby to inherit from their parents, including cystic fibrosis, Down syndrome, and sickle cell disease. Usually, both parents must carry the same gene in order to affect the health of the fetus.

Types of Prenatal Screening Tests: Carrier Screening


In a carrier screening, both parents are tested to find out if their genes could cause genetic disorders in their children. This test is usually performed with a cheek swab or blood sample, before or during pregnancy.

Types of Prenatal Screening Tests: First Trimester Screening

When? 10-13 weeks into pregnancy.

What? A blood test of the pregnant mother, and an ultrasound exam called a nuchal translucency screening.

Why? An abnormal measurement of the space at the back of the fetus’s neck at this point in pregnancy means there is an increased risk of aneuploidy, such as Down syndrome, as well as physical defects of the skeleton, heart and abdominal wall. The blood test measures the level of two substances in the blood.

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Types of Prenatal Screening Tests: Second Trimester Screening

When? 15-22 weeks into pregnancy.

What? A “quadruple” blood test measuring four substances in the blood of the pregnant mother, and an ultrasound (performed between 18 and 20 weeks of pregnancy).

Why? The blood test screens for Down syndrome, neural tube defects, and trisomy 18. The ultrasound checks for physical defects of heart, brain, spine, limbs, abdomen, and facial features.


Combined First and Second Trimester Screening


The results of the types of prenatal screening tests described above can be combined to provide the most accurate results. Final results will usually not be available until after testing in the second trimester.


Discuss Whether Prenatal Genetic Screening is Right for You


Make an appointment for compassionate prenatal care at NuWave Women’s Health. Dr. James Duerkes will guide you through every step of pregnancy, including types of prenatal genetic testing and whether or not such tests are advisable in your unique case. We look forward to serving your needs, whether they are for obstetric or gynecologic care.


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Sources for This Article:

Prenatal Genetic Screening Tests - ACOG

What patients are saying about dr.duerkes:

Dr. Duerkes came highly recommended during my pregnancy and after meeting him at my first prenatal visit I knew for sure I was in good hands. He has wonderful bedside manners, he's kind and compassionate and most importantly to me, I love that he takes the time to learn about me and my concerns to better care for me. His entire team from the girls at the front desk as well as his partner are all professional and friendly. You will not be disappointed.

Dr. Duerkes was drawn to Obstetrics & Gynecology because it is a specialty that includes multiple aspects of medicine, including office preventative care, surgery, and internal medicine. He was also drawn to the unique relationship between doctor and patient that comes with providing gynecologic and pregnancy care. Read Dr. Duerkes’s full bio here.

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