Gain early insights into your prenatal health with Prenactive^™ Noninvasive Prenatal Screen

The Prenactive NIPS Advantage

Prenactive NIPS safely and noninvasively screens for the most common chromosomal conditions affecting pregnancies. This screen can be done as early as 10 weeks gestation using a single maternal blood draw and offers high detection rates, low false positive rates, and the lowest test failure rate in the industry.¹

What is noninvasive prenatal screening?

Noninvasive prenatal screening (NIPS), often referred to as noninvasive prenatal testing (NIPT), is a screening that helps determine the risk of your child being born with specific genetic conditions.

During pregnancy, fragments of DNA from the placenta are released into the mother’s blood stream. Using NIPS, these DNA fragments are sequenced and an assessment is made to determine if there is an increased or decreased risk for certain chromosomal abnormalities in the pregnancy.

It is important to note that NIPS is a screening, meaning the results are not considered a final diagnosis. Your healthcare provider can help you understand your results and decide next steps, which may include confirmatory diagnostic testing.

NIPS reduces the number of invasive confirmatory procedures performed in unaffected pregnancies. ^2-6

NIPS can provide accurate prenatal insights earlier than current screening and diagnostic tests. ^7-8

NIPS is more accurate than other screening tests and it carries no risk of miscarriage. ^{2-3, 7-9}

Use cases in which early insights help our patients

Ultrasound Finding

At Maria’s 12-week ultrasound, the pocket of fluid at the back of the baby’s neck, called the nuchal translucency, measured larger than expected. This finding is associated with an increased risk for chromosomal abnormalities. The patient was offered the option of invasive diagnostic testing, NIPS, or to return in 4 weeks for a follow-up ultrasound. Maria was very anxious to learn more about her pregnancy but was hesitant to proceed with an invasive procedure without knowing more. She elected to do NIPS so she could quickly and safely get more information about the health of her pregnancy and could use this information to help her decide if invasive diagnostic testing was needed.

Family History Concerns

Janet and Tom have a 2-year-old son, Tyler, and they were excited to be expecting their second baby. Tyler was born with Down syndrome, a fact they did not know until delivery. Because of the family history, there was an increased risk for other pregnancies to also have chromosomal conditions. Reflecting on their experience of receiving a diagnosis of a genetic condition just after giving birth, in this pregnancy they would prefer to know ahead of time about any genetic conditions in the baby so they could be prepared.

General Screening

It’s Samantha’s first pregnancy and she was both nervous and excited. She wanted to share the news with her friends and family but knew that many pregnancies miscarry due to chromosomal conditions. She decided to wait until she was 10 weeks pregnant and do NIPS because a negative result would give her confidence that her pregnancy is progressing appropriately, and she could share her happy news. She also knew that if the results did show an increased risk for a condition, she and her partner would want privacy as they navigate their next steps.

Prenactive NIPS

Screens for the following:

Prenactive NIPS Plus

Screens for all of the aneuploidies reported on with Prenactive NIPS, with the addition of any of the following:

Trisomy 21 (Down syndrome)

Babies with Down syndrome have three copies of chromosome 21 and typically have intellectual disabilities that range from mild to severe. They may also be born with birth defects, such as structural heart abnormalities. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. While approximately 1 in 700 babies are born with Down syndrome, the risk to have a baby with Down syndrome increases with maternal age.

Trisomy 18 (Edwards syndrome)

Babies with trisomy 18 have three copies of chromosome 18 and have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys. Babies with trisomy 18 can also have visible birth defects such as an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small head, clubbed feet, underdeveloped fingers, and toes, and a small jaw. Unfortunately, most pregnancies with trisomy 18 will miscarry. If born alive, most affected babies with trisomy 18 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 18 occurs in approximately 1 in 3,000 live births.

Trisomy 13 (Patau syndrome)

Babies with trisomy 13 have three copies of chromosome 13 and have severe intellectual disabilities. They often have birth defects involving the heart, brain, and kidneys. Visible abnormalities include extra fingers and/or toes or an opening in the lip, with or without an opening in the palate. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry. If born alive, most affected babies with trisomy 13 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 13 occurs in approximately 1 in 5,000 live births.

Sex chromosome aneuploidies

Monosomy X (Turner syndrome)

Babies with monosomy X are biological females who have one X chromosome instead of two. Unfortunately, a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy. Babies with monosomy X that make it to term may have heart defects, learning difficulties, and infertility. In most cases, babies with monosomy X will need extra medical care including hormone therapy at various stages of life. Approximately 1 in 2,000 females are born with Turner syndrome.

XXY syndrome (Klinefelter syndrome)

Babies with XXY syndrome have two X chromosomes and one Y chromosome (XXY). This condition can be associated with learning difficulties and behavioral problems. People with Klinefelter syndrome might be infertile. About 1 in 500 biological males will be born with Klinefelter syndrome.

Triple X syndrome

Babies with Triple X syndrome have three X chromosomes (XXX). Children with this condition could be taller than average and might experience learning difficulties or behavioral problems. Approximately 1 in 800 biological females will be born with three X chromosomes.

XYY syndrome (Jacob's syndrome)

Babies with XYY syndrome have one X chromosome and two Y chromosomes (XYY). Most babies with XYY syndrome do not have any birth defects. Children with XYY could be taller than average and have an increased chance for learning, speech, and behavioral problems. Approximately 1 in 1,000 biological males will be born with one X chromosome and two Y chromosomes.

Expanded autosomal trisomies

22q11.2 deletion syndrome

22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disabilities and speech delays; some will also have low calcium levels, kidney problems, feeding problems, and/or seizures. About one in five children with 22q11.2 deletion syndrome has autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome has a psychiatric illness, like schizophrenia.

15q15.2 deletion syndrome

The syndrome caused by a deletion at 15p15.2 depends on if the deletion is on the chromosome 15 inherited from the baby’s mother or father. If the deletion is on the 15 inherited from the baby’s father, the baby has Prader-Willi syndrome. Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disabilities. About 1 in 10,000 babies are born with Prader-Willi syndrome. If the deletion is on the 15 inherited from the baby’s mother, the baby has Angelman syndrome. Children with Angelman syndrome have severe intellectual disabilities, delayed milestones, seizures, and problems with balance and walking. About 1 in 12,000 babies are born with Angelman syndrome. Both Angelman syndrome and Prader-Willi syndrome can be due to other types of chromosomal changes, not just a 15p15.2 deletion.

1p36 deletion syndrome

1p36 deletion syndrome, also referred to as Monosomy 1p36 syndrome is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities, and most have heart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy), behavioral problems, and hearing loss. Some children with 1p36 deletion syndrome also have vision problems or additional birth defects of other organs. About 1 in 5,000 newborn babies has 1p36 deletion syndrome.

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p-syndrome, is caused by a partial deletion of the short arm of chromosome 4. Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disabilities, and seizures. The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births.

Cri-du-chat syndrome

A missing piece of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to the high-pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size, and weak muscle tone. Feeding and breathing problems are common in infancy. Children with this disorder have moderate-to-severe intellectual disabilities, including speech and language delays. They may also have growth delays, behavioral problems, and some have curvature of the spine (scoliosis). About 1 in every 20,000 babies is born with Cri-du-chat syndrome.

NIPS detections rates

Down syndrome T21

Edwards syndrome T18

Patau syndrome T13

Benefits of NIPS

Proven superiority to traditional screening methods with higher detection rates, reduced false positive rates
Offers the highest reported detection rate for Down syndrome⁷
Offers the lowest reported false positive rate for Down syndrome⁷
Offers the broadest screening window (performed as early as 10 weeks gestation until term)^7-8
Fast turnaround time¹
Lowest published failure rate in the industry, 0.1%^1,10-11

Genetic Counseling

SDxLabs board-certified genetic counselors are available to help you understand how noninvasive prenatal screening works, the conditions it screens for, and the possible results it could give. Post screening, our genetic counselors can help you understand results and assist in navigating next steps, such as options for diagnostic testing. Genetic counseling services may also be available through your healthcare provider. Speak with provider for additional details. Genetic counseling may be required for prior authorization.

Learn More

Making noninvasive prenatal screening available to all patients

We are committed to providing access to accurate and affordable screenings to help patients make informed choices about their health and their baby’s. Every situation is unique, and we don’t want cost to be a barrier to care. Learn more about financial assistance.

Financial Assistance

Clear, concise results

Each condition screened for with Prenactive NIPS is reported individually with “High-Risk” or “Low-Risk” results. High-risk results indicate an increased concern for this condition in the pregnancy and, [in trisomy 21, 18, and 13] a percentage (the positive predictive value) is given to indicate the chance the pregnancy is affected. Genetic counseling, ultrasound, and the option of diagnostic testing are recommended following a high-risk NIPS result. Low-risk results are very reassuring that the pregnancy is likely unaffected by that condition.

Limitations of the screen

Noninvasive prenatal screening (NIPS) is a screening; it is not a diagnostic test. False positive and false negative results may occur. Further confirmatory testing is necessary prior to making any irreversible pregnancy decisions. A negative result does not eliminate the possibility that the pregnancy has one of the conditions tested. This test does not screen for other chromosomal conditions such as triploidy, birth defects such as open neural tube defects, single gene disorders, or other conditions, such as autism. There is a small possibility that the test results might not reflect the chromosomal status of the pregnancy, but may instead reflect chromosomal changes in the placenta, a demised twin, or the mother, that may or may not have clinical significance.

Frequently asked questions about NIPS

References

Taneja, P. A., Snyder, H. L., de Feo, E., Kruglyak, K. M., Halks-Miller, M., Curnow, K. J., & Bhatt, S. (2016). Noninvasive prenatal testing in the general obstetric population: Clinical performance and counseling considerations in over 85 000 cases: NIPT in the general obstetrics population. Prenatal Diagnosis, 36(3), 237-243. https://doi.org/10.1002/pd.4766
Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., Das, A. F., Craig, J. A., Chudova, D. I., Devers, P. L., Jones, K. W., Oliver, K., Rava, R. P., Sehnert, A. J., & CARE Study Group. (2014). DNA sequencing versus standard prenatal aneuploidy screening. The New England Journal of Medicine, 370(9), 799-808. https://doi.org/10.1056/NEJMoa1311037
Chudova, D. I., Sehnert, A. J., & Bianchi, D. W. (2016). Copy-number variation and false positive prenatal screening results. The New England Journal of Medicine, 375(1), 97-98. https://doi.org/10.1056/NEJMc1509813
Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015). Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: Updated meta‐analysis. Ultrasound in Obstetrics & Gynecology, 45(3), 249-266. https://doi.org/10.1002/uog.14791
Platt, L. D., MD, Janicki, M. B., MD, Prosen, T., MD, Goldberg, J. D., MD, Adashek, J., MD, Figueroa, R., MD, Rodis, J., MD, Liao, W., PhD, Sehnert, A. J., MD, Snyder, H. L., MS, & Warsof, S. L., MD. (2014). Impact of noninvasive prenatal testing in regionally dispersed medical centers in the united states. American Journal of Obstetrics and Gynecology, 211(4), 368.e1-368.e7. https://doi.org/10.1016/j.ajog.2014.03.065
Larion, S., Warsof, S. L., Romary, L., Mlynarczyk, M., Peleg, D., & Abuhamad, A. Z. (2014). Association of combined first-trimester screen and noninvasive prenatal testing on diagnostic procedures. Obstetrics and Gynecology (New York. 1953), 123(6), 1303-1310. https://doi.org/10.1097/AOG.0000000000000275
Practice Bulletin No. 163: Screening for Fetal Aneuploidy. (2016). Obstetrics and gynecology, 127(5), e123–e137. https://doi.org/10.1097/AOG.0000000000001406
Gil, M. M., Accurti, V., Santacruz, B., Plana, M. N., & Nicolaides, K. H. (2017). Analysis of cell-free DNA in maternal blood in screening for aneuploidies: Updated meta-analysis: Cell-free DNA in screening for aneuploidies. Ultrasound in Obstetrics & Gynecology, 50(3), 302-314. https://doi.org/10.1002/uog.17484
Benn, P., Borrell, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B., Gross, S., Huang, T., Johnson, J., Maymon, R., Norton, M., Odibo, A., Schielen, P., Spencer, K., Wright, D., & Yaron, Y. (2015). Position statement from the chromosome abnormality screening committee on behalf of the board of the international society for prenatal diagnosis: Chromosome abnormality screening statement. Prenatal Diagnosis, 35(8), 725-734. https://doi.org/10.1002/pd.4608
McCullough, R. M., Almasri, E. A., Guan, X., Geis, J. A., Hicks, S. C., Mazloom, A. R., Deciu, C., Oeth, P., Bombard, A. T., Paxton, B., Dharajiya, N., & Saldivar, J. (2014). Non-invasive prenatal chromosomal aneuploidy testing - clinical experience: 100,000 clinical samples. PloS One, 9(10), e109173-e109173. https://doi.org/10.1371/journal.pone.0109173
Ryan, A., Hunkapiller, N., Banjevic, M., Vankayalapati, N., Fong, N., Jinnett, K. N., Demko, Z., Zimmermann, B., Sigurjonsson, S., Gross, S. J., & Hill, M. (2016). Validation of an enhanced version of a single-nucleotide polymorphism-based noninvasive prenatal test for detection of fetal aneuploidies. Fetal Diagnosis and Therapy, 40(3), 219-223. https://doi.org/10.1159/000442931

Gain early insights into your prenatal health with Prenactive™ Noninvasive Prenatal Screen