Noninvasive Prenatal Screening (NIPS)

Down syndrome, also called Trisomy 21, occurs when a baby has an extra copy of chromosome 21, which can affect how the brain and body develop.

The incidence of Down syndrome increases with maternal age,, occurring in approximately 1 in 319 to 1 in 1,000 live births, though rates can vary by population. 

The way Down syndrome presents can vary. Individuals may experience intellectual differences and can have associated medical conditions. Congenital heart defects are among the most common, affecting up to 50% of infants. An estimated 50% to 75% of affected fetuses are lost through miscarriage before term. Among liveborn individuals, advances in medical and surgical care have increased life expectancy to over 60 years in developed countries. With appropriate medical care and support, many individuals with Down syndrome can live into adulthood and beyond.

Learn More about Trisomy 21

Trisomy 18, also called Edwards syndrome, occurs when a baby has an extra copy of chromosome 18. This condition is associated with significant developmental differences and serious medical concerns, often affecting the heart, brain, and other organs. Some babies may also have physical differences such as a small head, clenched hands, or differences in the feet or jaw.

Unfortunately, most pregnancies with Trisomy 18 will miscarry. If born alive, many affected babies have a limited life expectancy, and some may live only a short time after birth.

Trisomy 18 occurs in approximately 1 in 3,000 live births. For more information on Trisomy 18, visit the National Institute of Health. 

Trisomy 13, also known as Patau syndrome, occurs when a baby has an extra copy of chromosome 13. This condition is associated with significant developmental differences and serious medical concerns, often affecting the heart, brain, and other organs.

Some babies may also have physical differences, such as extra fingers or toes, or a cleft lip with or without a cleft palate. Many pregnancies affected by trisomy 13 end in miscarriage. For babies born alive, life expectancy is often limited, though a small number may live beyond the first year. Trisomy 13 occurs in approximately 1 in 10,000 live births.

Learn More about Trisomy 13

Turner syndrome is a genetic condition that affects biological females and occurs when one of the two X chromosomes is missing or partially missing.

This condition can affect growth and development. Some individuals may have health considerations such as short stature, heart differences, or differences in ovarian function that can impact fertility. The way Turner syndrome presents can vary. Some individuals have more noticeable features, while others may have milder findings identified over time.

Turner syndrome occurs in about 1 in 2,000 to 4,000 female births. Many pregnancies affected by Turner syndrome do not continue to term. For those born with Turner syndrome, medical care and support, including hormone therapy when appropriate, can help manage health and development.

Klinefelter syndrome, also called XXY syndrome, occurs when a male is born with an extra X chromosome. This chromosomal difference can affect development, particularly the testes, which may produce lower levels of testosterone. This can lead to differences such as reduced muscle mass, less facial or body hair, and potential challenges with fertility.

The way Klinefelter syndrome presents can vary widely. Some individuals have noticeable features, while others may have mild symptoms and are not diagnosed until later in life. Klinefelter syndrome occurs in approximately 1 in 500 to 1 in 1,000 males. 

Triple X syndrome (Trisomy X or 47,XXX) occurs when a female is born with an extra X chromosome. Many girls and women with Triple X syndrome have no symptoms or only mild ones. Others may experience developmental delays, learning differences, or other health considerations .

The way Triple X syndrome presents can vary widely. Some individuals may have noticeable features, while others may not be diagnosed until later in life. Triple X syndrome occurs in approximately 1 in 1,000 females.

22q11.2 deletion syndrome is a genetic condition caused by a small missing piece of chromosome 22. In most cases, the syndrome occurs for the first time in the affected person, but about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner, which means that if a parent has the deletion, each child has a 50% chance of inheriting it.

This condition can affect multiple parts of the body. Some individuals may have health considerations such as heart defects, immune system differences, cleft palate, or developmental and learning differences. The way 22q11.2 deletion syndrome presents can vary widely. Some individuals may have mild symptoms, while others may have more complex medical needs.

22q11.2 deletion syndrome occurs in about 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features.

Fetal RhD screening should only be ordered for Fetal RhD negative patients. RhD refers to a protein that may be present on red blood cells. A person is either RhD positive or RhD negative. RhD status becomes important during pregnancy if the pregnant person is RhD negative and the baby is RhD positive. In certain situations, differences in blood type can affect how a pregnancy is monitored (Centers for Disease Control and Prevention [CDC], 2022). 

Fetal RhD screening uses cell-free DNA from a maternal blood sample to determine a baby’s RhD status during pregnancy. This information can support discussions with your healthcare provider about personalized prenatal care. 

This is not a diagnostic test; results should be interpreted by the referring clinician in the context of all clinical and familial findings. The referring clinician is responsible for the manner in which these results are used to guide patient care, including advising the patient on the need for genetic counseling and follow up diagnostic testing.

The standard panel screens for trisomy 21, 18, and 13, as well as sex chromosome aneuploidies. 

Low fetal fraction, early gestational age, high maternal BMI, recent blood transfusions, certain maternal or placental conditions, and other factors may impact performance.

Noninvasive Prenatal screening (NIPS) requires a simple maternal blood draw using two tubes. 

Noninvasive Prenatal screening (NIPS) results are typically available within 4–6 calendar days. 

NIPS can be performed as early as 10 weeks gestation. 

NIPS is appropriate for all pregnant patients, regardless of maternal age, in accordance with ACOG and SMFM guidelines. 

Yes, fetal sex can be added both before, and after the test has been resulted. Often this does not involve another blood draw. Call customer care (1-877-402-4221) to add fetal sex to the report.

Yes. Expanded options include screening for 22q11.2 deletion syndrome and fetal RhD status, for RhD negative patients.  

No. Noninvasive Prenatal screening (NIPS) is a screening test. Positive results should be confirmed with diagnostic testing. 

Yes, Noninvasive Prenatal screening (NIPS) is available for twin pregnancies; however, 22q11.2 deletion screening and fetal RhD status are not available for twins. 

 Yes, NIPS can be used in IVF pregnancies, including those using donor eggs. 

Yes. Maternal chromosomal conditions, malignancy, mosaicism, or other factors may influence results.