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Introduction

During pregnancy, early and regular prenatal care is important for mother and baby. It enables health care providers to identify potential risks or complications, and provides measures to help mother and baby thrive. In early prenatal care visits, providers evaluate the mother鈥檚 physical health, review past pregnancies, and run tests for blood pressure, anemia, and infectious diseases.

Noninvasive prenatal testing (NIPT), which screens for the most common chromosomal aneuploidies in the fetus, is now recommended for some expectant mothers.¹ It was almost 20 years ago when researchers first discovered that DNA fragments from the baby's placenta can enter the mother鈥檚 bloodstream,² and 13 years later when NIPT was first used in prenatal care.³ On average, 13% of the total cell-free DNA (cfDNA) in the mother鈥檚 blood comes from the baby.^4-5 cfDNA can be analyzed to screen for fetal chromosomal anomalies through a simple blood draw from the mother. NIPT includes targeted DNA tests, as well as whole-genome next-generation sequencing (NGS)-based tests, such as the Verifi Prenatal Test.

An NIPT Saga Begins

鈥淚 wasn鈥檛 offered genetic testing during my first pregnancy,鈥� recalls Nicole, 26, who has a healthy 4-year-old girl. After experiencing a subsequent miscarriage, Nicole was offered genetic testing during the 12th week of her third pregnancy. 鈥淚t was the first time I had ever heard about this type of testing,鈥� Nicole said. Her obstetrician recommended NIPT to screen for fetal chromosomal abnormalities, such as Down syndrome. The test he chose uses a targeted approach that focuses on specific regions of DNA responsible for chromosomal conditions. 鈥淚 trusted my doctor, so I agreed to take the test,鈥� Nicole stated. 鈥淢y doctor said it鈥檚 the best way to find out that everything鈥檚 okay genetically and that I鈥檇 also find out the sex of the baby, which I was very excited about,鈥� Nicole added. 鈥淗e explained that the test works by analyzing the baby鈥檚 DNA from my blood to look at the baby鈥檚 chromosome number.鈥�

Nicole submitted a blood sample for the test at her obstetrician鈥檚 office. 鈥淚t鈥檚 always been difficult for me to have blood work done because my veins are difficult to find and I鈥檓 left with multiple bruises,鈥� Nicole said. 鈥淭hey had to use three needles just to draw the blood for the test.鈥� The doctor鈥檚 office told her that the results would be available in 7鈥�10 business days. After 7 days, Nicole began calling to inquire about the results. 鈥淧eople in the doctor鈥檚 office actually had to call the lab to see if the blood work was back and ask them when they were going to receive the results,鈥� Nicole stated. 鈥淚 finally heard back on day 9, and they told me the results were inconclusive. I thought, 鈥榟ow can this be?鈥� More importantly, 鈥榳hat does this mean?鈥欌��

Nicole鈥檚 obstetrician recommended that she submit another blood sample and repeat the test a second time. Nicole鈥檚 experience with the second test was identical to her first. 鈥淚t was difficult to draw the blood sample, I waited 9 days and called several times to get the results, and once again the test came back inconclusive,鈥� Nicole said. 鈥淎t this point, I was very frustrated. That鈥檚 when my doctor recommended that I see a specialist and receive genetic counseling.鈥�

鈥淗onestly, I wouldn鈥檛 use that first testing kit again. I would use the Verifi Prenatal Test that Dr. Chavez used.鈥�

Verifi Prenatal Test Delivers

At 17 陆 weeks gestation, with a previous miscarriage and no conclusive result from the repeated targeted sequencing test, Nicole鈥檚 pregnancy was now considered high risk. She was referred to Martin Chavez, MD, a specialist in high-risk and complicated pregnancies, and Director of Maternal Fetal Medicine at Women鈥檚 Contemporary Care Associates (WCCA) in Long Island, New York.

鈥淚 was very concerned,鈥� Nicole said. 鈥淚 didn鈥檛 know if there was something wrong with my baby or if there was something wrong with me. I was breaking down to the point where I was spotting from the stress.鈥�

Dr. Chavez had witnessed a high failure rate with the particular company鈥檚 targeted test used twice with Nicole and had been frustrated by the high number of inconclusive results. He recently recommended that referring physicians transition to the Verifi Prenatal Test to reduce the number of non-reportable results. He ordered the Verifi Prenatal Test for Nicole, along with a detailed ultrasound, which is performed routinely at 18鈥�20 weeks. Similar to Nicole鈥檚 first assay, the Verifi Prenatal Test analyzes fetal DNA from the mother鈥檚 blood. However, it goes further to analyze the whole genome instead of analyzing specific DNA regions. The Verifi Prenatal Test produces highly accurate prenatal screening results and the lowest test failure rate (0.1%) of any noninvasive prenatal test, meaning that it provides a result 99.9% of the time.⁶

Nicole had her blood drawn in Dr. Chavez鈥檚 office the same day as her detailed ultrasound was performed. Within a week, Nicole received the NIPT results. 鈥淭hey called me and told me that everything was normal,鈥� Nicole said. 鈥淚 didn鈥檛 have to call anybody. I thought it was astonishing that I had to wait all that time and be referred to a specialist just to obtain access to a test that produced conclusive results in a timely manner.鈥�

鈥淚鈥檓 so relieved to finally have a result,鈥� Nicole added. 鈥淲aiting is frustrating, nerve wracking, and causes so much anxiety.鈥� Nicole will request the Verifi Prenatal Test for her next pregnancy and recommends that other women do the same. 鈥淗onestly, I wouldn鈥檛 use that first testing kit again,鈥� Nicole said. 鈥淚 would use the Verifi Prenatal Test that Dr. Chavez used. It was amazing to me how easy the process was the third time.鈥�

Learn More

NIPT failure rates vary significantly based on the test. Using whole-genome NGS, the Verifi Prenatal Test achieves the lowest NIPT failure rate. See the data at .