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Invitae NIPS for Singleton Pregnancies (chromosomes 13, 18, 21)

Test description

Invitae Non-invasive Prenatal Screening (NIPS) for Singleton Pregnancies analyzes whether a pregnancy is at increased risk for the chromosomal disorders listed below.

All NIPS reports include analysis of chromosomes 21, 18, and 13 and assess the risk of the following trisomies:

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)

Analysis of sex chromosomes can also be added to assess risk of the following sex chromosome disorders as well as predicted fetal sex.

  • XX (predicted fetal sex is female)
  • XY (predicted fetal sex is male)
  • Monosomy X (Turner syndrome)
  • 47,XXX (Triple X syndrome)
  • 47,XXY (Klinefelter syndrome)
  • 47,XYY (Jacob’s syndrome)

Analysis of the risk of the following microdeletion syndromes is also available.

  • 1p36 deletion syndrome
  • 4p16.3 deletion syndrome (Wolf-Hirschhorn syndrome)
  • 5p15.2 deletion syndrome (Cri du Chat syndrome)
  • 15q11.2 deletion syndrome (Angelman syndrome/Prader-Willi syndrome)
  • 22q11.2 deletion syndrome (DiGeorge syndrome)

To include sex chromosome and or microdeletion syndrome analysis in your order, please select the appropriate checkboxes below.

Please see the Disorders Tested section for more information about these chromosome disorders.

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Invitae NIPS for Singleton Pregnancies (chromosomes 13, 18, 21)
Add-on for Sex Chromosomes (will report predicted fetal sex)

Analysis of sex chromosomes to assess risk of sex chromosome disorders as well as predicted fetal sex can be added at no additional charge.

Add-on for Select Microdeletions (1p36, 4p16.3, 5p15.2, 15q11.2, 22q11.2)

Analysis of the risk of specific microdeletion syndromes can be added at no additional charge.

Alternative tests to consider

DisorderChromosomeDescriptionPrevalence
Common Trisomies
Down syndrome Trisomy 21 Although some pregnancies with trisomy 21 end in pregnancy loss, trisomy 21 often can lead to live birth. Individuals with trisomy 21 have variable physical features and intellectual disability. Some of the common features of trisomy 21 include heart defects, low muscle tone, and differences in facial features. In addition, cognitive impairment can range from mild to severe. People with Down syndrome have a higher risk for certain medical conditions, such as hearing problems, thyroid problems, childhood leukemia, and Alzheimer’s disease. People with Down syndrome may require supervision throughout their lives. However, many people with Down syndrome are increasingly attending school and holding jobs. Many individuals with Down syndrome live into adulthood. Trisomy 21 is the most common chromosome abnormality, occurring in 1 in 700 to 800 live births.
Edwards syndrome Trisomy 18 Although many pregnancies with trisomy 18 result in miscarriage or stillbirth, trisomy 18 can result in livebirth. Individuals with trisomy 18 have severe intellectual disability and abnormalities involving multiple organs. Some of the common fea-tures of trisomy 18 include heart defects, brain abnormalities, muscu-loskeletal problems, cleft lip and palate, and low birth weight. Although less than 10% of babies with trisomy 18 will live past 1 year of age, some people with this condition can live years or even decades. Trisomy 18 occurs in 1 in 6000 to 8000 live births.
Patau syndrome Trisomy 13 Although the majority of pregnancies with trisomy 13 result in miscarriage or stillbirth, trisomy 13 can result in live birth. Individuals with trisomy 13 have severe intellectual disability and abnormalities involving multiple organs. Some of the common features of trisomy 13 include heart defects, omphalocele, brain abnormalities such as holoprosencephaly, cleft lip and palate, and other features. Although less than 10% of babies with trisomy 13 will live past 1 year of age, some people with this condition can live years or even decades. Trisomy 13 occurs in approximately 1 in 12,000 live births.
Sex Chromosome Aneuploidies
Turner syndrome monosomy X Monosomy X is a condition that is caused by having one X sex chromosome and an absent second sex chromo-some (one sex chromosome instead of two sex chromosomes). Many pregnancies with monosomy X will result in a pregnancy loss; however, monosomy X is compatible with continued survival and live birth. Females with monosomy X have variable phenotypes. Typically, females with monosomy X have normal intelligence; however, learning disabilities are possible and variable. Some of the common features of monosomy X include heart defects, kidney abnormalities, short stature, congenital lymphedema, and primary amenorrhea. Approximately 1 in 2500 females are born with monosomy X.
XXX syndrome 47,XXX XXX syndrome is a condition that is caused by a female having an extra copy of the X sex chromosome (three copies of the X chromosome instead of the usual two copies). XXX syndrome is likely to result in live birth. XXX syndrome is usually not associated with intellectual disability or severe birth defects. Some of the common features of XXX syndrome include delayed speech and motor development. Females with XXX syndrome can be taller than average height. Pubertal development and fertility is usually normal. Approximately 1 in 1000 females are born with XXX syndrome.
Klinefelter syndrome 47,XXY XXY syndrome is a condition that is caused by a male having an extra copy of the X sex chromosome (two copies of the X chromosome and one copy of the Y chromosome rather than the usual one copy of each). XXY syndrome is likely to result in live birth. Males with XXY syndrome have variable phenotypes. Some of the common features of XXY syndrome include learning disabilities, delayed speech and language development, taller stature, hypogonadism, and risk of infertility. Approximately 1 in 600 males are born with XXY syndrome.
Jacobs syndrome 47,XYY XYY syndrome is a condition that is caused by a male having an extra copy of the Y sex chromosome (one copy of the X chromosome and two copies of the Y chromosome rather than the usual one copy of each). XYY syndrome is likely to result in livebirth. Males with XYY syndrome have variable phenotypes. Some of the common features of XYY syndrome include delayed speech and language development and taller stature. There is a slightly increased risk for males with XYY syndrome to have an autism spectrum disorder or learning disability. Approximately 1 in 1000 males are born with XYY syndrome.
Microdeletion Syndromes
1p36 deletion syndrome 1p36 deletion 1p36 deletion syndrome is a genetic syndrome characterized by birth defects, intellectual disability, and other serious medical issues. 1p36 deletion syndrome is caused by a deletion in the region of 1p36. Key features of this syndrome include: characteristic craniofacial features, intellectual disability, seizures, skeletal abnormalities, and brain and heart defects. Lifespan is variable, but can be normal. 1 in 4,000-10,000 new-borns have this condition, with a female: male ratio of 2:1.
Wolf-Hirschhorn syndrome/4p- syndrome 4p16.3 deletion 4p- syndrome is a rare genetic syndrome characterized by birth defects, intellectual disability, and other serious medical problems. 4p- syndrome is caused by a deletion in the region of 4p16.3. Key features of the syndrome include: prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment, typical craniofacial features in infancy consisting of a characteristic appearance of the nose, microcephaly, intellectual disability of variable degree, seizures, skeletal anomalies, congenital heart defects, hearing loss (mostly conductive), urinary tract malformations, and structural brain abnormalities. Life expectancy varies depending on severity of features. 1 in 50,000 newborns have this condition, with a 2:1 female: male ratio.
Cri-du-Chat syndrome/5p- syndrome 5p15.2 deletion 5p- syndrome is a genetic syndrome charac-terized by birth defects, intellectual disability, and other serious medical issues. 5p- syndrome is caused by a deletion in the region of 5p15.2. Key features of this syndrome include: significant intellectual disability, speech delay, cat-like cry, dysmorphic features, microcephaly and 10% mortality in first year. 1 in 20,000-50, 000 live births have this condition.
Prader-Willi and Angelman syndromes 15q11.2-q13 deletion Prader-Willi syndrome (PWS) is a rare genetic condition that causes difficulty feeding and failure to thrive in infancy, with obesity, developmental delay, and other medical prob-lems as the child gets older. NIPT is only able to detect PWS caused by a deletion, which accounts for ~70% of cases; the remaining cases are caused by different underlying molecular mechanisms. Angelman syndrome (AS) is a rare genetic syndrome that includes intellectual disability and other serious medical problems. NIPT is only able to detect AS caused be a deletion, which accounts for ~68% of cases; the remaining cases are caused by different underlying molecular mechanisms. 1 in 10,000 to 1 in 25,000 newborns have PWS. 1 in 12,000 to 1 in 20,000 newborns have AS.
DiGeorge syndrome 22q11.2 deletion 22q11.2 deletion syndrome is a genetic syndrome that is variable in presentation. Many features have been reported, yet individuals with this syndrome may have different presentations from one another. Key features of this syndrome are variable, but include: intellectual disability, heart defects, palatal abnormalities, immune deficiency, and dysmorphic features. Life span is usually normal, but can vary depending on severity of features. 1 in 4,000 live births have this condition.

Test Location
Invitae NIPS will be sent out by Invitae to Verinata Health, Inc, a wholly owned subsidiary of Illumina, Inc., which will then perform the screen and send the report to Invitae.

Test Method
Nucleic acid extraction, DNA sequencing, and analysis of sequencing results to determine fetal aneuploidy.

Invitae NIPS is validated for aneuploidy of 21, 13, 18, X, and Y and for specific deletions in chromosomal regions 1p36, 4p16.3, 5p15.2, 15q11.2, 22q11.2, in singleton pregnancies, with gestational age of at least 10 weeks 0 days.

Limitations
This is a screening test that looks only for specific chromosomal abnormalities. A normal result does not eliminate the possibility that the pregnancy is associated with other chromosomal or subchromosomal abnormalities, birth defects, genetic conditions, or other conditions, such as open neural tube defects or autism.

There is a small possibility that the test results might not reflect the chromosomes of the fetus, but may reflect chromosomal changes of the placenta (confined placental mosaicism, CPM) or of you (maternal chromosomal abnormalities). Examples include maternal XXX, sex chromosome status, or benign and malignant maternal neoplasm. CPM may be associated with a higher chance for pregnancy complications or for uniparental disomy (UPD), which may affect the growth and development of the fetus. Some of these rare chromosomal aneuploidies may only occur in mosaic form. Clinical consequences depend on the chromosome involved and can not be predicted prenatally. This test, like many tests, have limitations, including false negative and false positive results. A negative test result does not eliminate the possibility of chromosomal abnormalities for the tested chromosomes or microdeletions.