The History and Development of Non-Invasive Prenatal Screening Tests

Non-invasive prenatal screening tests have transformed prenatal care, allowing for earlier, safer, and more accurate detection of genetic disorders in babies. But how were these tests developed, and what impact have they had on the field of prenatal care? This article will explore the history and evolution of non-invasive prenatal screening tests.

The early days of prenatal screening

Prenatal testing or screening for chromosome conditions has been around for decades. Still, before the development of non-invasive prenatal screening, invasive procedures were one of the few options available to women who wanted to learn genetic or chromosomal information about their babies before birth. Pregnant women could choose to have prenatal diagnostic testing through procedures such as amniocentesis. Still, this test involves inserting a needle into the amniotic sac to collect a sample of amniotic fluid for testing, meaning the test carries a slight risk of pregnancy loss or miscarriage (less than 1%). In the 1990s, researchers began exploring non-invasive prenatal screening methods, such as analyzing fetal DNA circulating in the maternal blood. The research led to the development of the non-invasive prenatal screening tests available today.

The Introduction of non-invasive prenatal testing

The introduction of non-invasive prenatal screening tests (also referred to as NIPS or NIPT) using cell-free fetal DNA transformed prenatal care by providing a safer and highly accurate way to screen for chromosome conditions during pregnancy. In 1997, researchers discovered that fetal DNA could be found in the maternal blood, eventually leading to the development of NIPS. In 2011, Sequenom’s MaterniT21 test became the first non-invasive prenatal screening test to launch in the US commercially. With the technology evolving since NIPS has become a routine part of prenatal care for many women.

The advancements in NIPT technology

Since the introduction of the first non-invasive prenatal screening test in the US in 2011, the technology has continued to evolve and improve. Early versions of NIPS focused on screening for only the common trisomies–trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome)--and the test was initially only recommended for women considered to have high-risk pregnancies, such as women over 35 at delivery or women with abnormal ultrasound findings.

Over time, advancements in research and technology have expanded the capabilities of NIPS, and prenatal care providers and patients have recognized the utility of this testing for all pregnant women. In 2015, Sequenom launched MaterniT Genome NIPS, which allowed for screening all 23 pairs of chromosomes through NIPS, rather than only chromosomes 21, 18, and 13. Following these advancements, the American College of Obstetricians and Gynecologists (ACOG) recommended in 2020 that NIPS be available to all pregnant people, regardless of age or baseline risk.

Additionally, advancements in the technology used for NIPS, such as next-generation sequencing, have led to increased accuracy and faster turn-around times, making NIPS a highly reliable screening option that’s available as early as 9 weeks in pregnancy.

The limitations of NIPT (a/k/a NIPS)

While non-invasive prenatal screening tests have transformed prenatal care, there are still limitations to their use.

• NIPT is a screening test, not a diagnostic test. It can only detect an increased risk for certain chromosomal conditions, not definitively diagnose any conditions during pregnancy.
• NIPS screens for a limited number of chromosomal or genetic conditions. While NIPS can look for some of the more common chromosomal conditions seen during pregnancy, it cannot look for all possible chromosomal or genetic disorders in a fetus. This means a pregnancy could be affected by a genetic condition not yet tested by NIPS.
• Incidental findings or inconclusive results are possible. While NIPS focuses on identifying chromosomal conditions in the pregnancy, occasionally unexpected findings may be seen.

Pregnant people should always discuss the benefits and limitations of NIPT with their healthcare provider to determine if it is the right screening option for them.

Read more about the benefits and limitations of non-invasive prenatal screening tests.

The Future of Prenatal Screening

As technology continues to advance, the future of prenatal screening looks promising. Researchers are exploring new approaches to improve accuracy, lower costs, and expand the array of detectable conditions using non-invasive prenatal screening. At Juno, our mission is to offer more affordable and accessible NIPS testing to support all expectant parents, regardless of age, location, or resources. If you’re considering non-invasive prenatal screening, speaking with a genetic counselor or your prenatal care provider can help you determine whether NIPS is the best option for you and your family.

Please note: JunoDx.com and the materials and information it contains are not intended to, and do not constitute medical or other health advice or diagnosis and should not be used as such. You should always consult with a qualified physician or health professional about your specific circumstances.