Card kit

Invitae Singleton NIPS Core (chr 13, 18, 21)

Test code: 71001

Fast turnaround

This test has a faster turnaround time than most Invitae panels.

Test description

Invitae Core Non-invasive Prenatal Screening (NIPS) for Singleton Pregnancies analyzes whether a pregnancy is at increased risk for the chromosomal disorders listed below. Testing can be performed at a minimum of 10 weeks gestation.

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

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

Analysis of sex chromosomes can also be added to assess the risk of sex chromosome disorders as well as predicted fetal sex. To include sex chromosome and/or predicted fetal sex in your order, please select the appropriate add-ons.

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

Disorders tested

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 live birth. Individuals with trisomy 18 have severe intellectual disability and abnormalities involving multiple organs. Some of the common features of trisomy 18 include heart defects, brain abnormalities, musculoskeletal 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 chromosome (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 live birth. 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.

Ordering information

Turnaround time:

3-10 calendar days

New York approved:

Yes

Preferred specimen:

Whole blood (10-mL black & tan top Streck cfDNA tube)Learn more about specimen requirementsRequest a specimen collection kit

Assay information

Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions are performed to determine the risk of specific fetal chromosomal abnormalities. The Invitae Singleton NIPS Core is validated to detect trisomies of chromosomes 13, 18 and 21 and assessment of chromosomes X and Y, in singleton pregnancies at a minimum gestational age of 10 weeks 0 days. The Invitae Singleton NIPS Expanded is validated to detect trisomies of chromosomes 13, 18, and 21; rare autosomal trisomies of chromosomes 6, 7, 8, 9, 11, 14, 15, 16, 20, and 22; assessment of chromosomes X and Y; and deletions involving specific chromosomal regions (1p36.3-p36.2, 4p16.3-p16.2, 5p15.3-p15.1, 15q11.2-q13.1 and 22q11.21) in singleton pregnancies at a minimum gestational age of 10 weeks 0 days. The Invitae Twin NIPS is validated to detect trisomies of chromosomes 13, 18 and 21 and the presence of chromosome Y for twin pregnancies at a minimum gestational age of 10 weeks 0 days. NIPS relies on the presence of fragments of cell-free placental and maternal DNA in maternal blood to assess the risk of an affected pregnancy. Many factors, both maternal (maternal blood transfusion, surgery, organ transplant, immunotherapy, neoplasm, or mosaicism) and pregnancy-related (vanishing twin, fetal demise, confined placental mosaicism, true fetal mosaicism, uniparental disomy, and polyploidy), can affect the results. NIPS is intended for screening purposes only, thus false negative and false positive results occur. This analysis does not assess the risk for other conditions, including but not limited to birth defects, open spine or ventral wall defects, intellectual disability, single gene disorders, or chromosomal abnormalities other than those listed above. The PPV and NPV calculations reported do not take into account additional clinical information such as previous screening results, positive family history or abnormal ultrasound findings. It is the duty of the healthcare provider to interpret these results in the context of the patient's clinical and family history and to recommend genetic counseling and additional testing when appropriate. This test was developed and its performance characteristics determined by Invitae. It has not been cleared or approved by the FDA. The laboratory is regulated under the Clinical Laboratory Improvement Act (CLIA) as qualified to perform high-complexity clinical tests (CLIA ID: 05D2040778). This test is used for clinical purposes. It should not be regarded as investigational or for research.

Assay information

Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions are performed to determine the risk of specific fetal chromosomal abnormalities. The Invitae Singleton NIPS Core is validated to detect trisomies of chromosomes 13, 18 and 21 and assessment of chromosomes X and Y, in singleton pregnancies at a minimum gestational age of 10 weeks 0 days. The Invitae Singleton NIPS Expanded is validated to detect trisomies of chromosomes 13, 18, and 21; rare autosomal trisomies of chromosomes 6, 7, 8, 9, 11, 14, 15, 16, 20, and 22; assessment of chromosomes X and Y; and deletions involving specific chromosomal regions (1p36.3-p36.2, 4p16.3-p16.2, 5p15.3-p15.1, 15q11.2-q13.1 and 22q11.21) in singleton pregnancies at a minimum gestational age of 10 weeks 0 days. The Invitae Twin NIPS is validated to detect trisomies of chromosomes 13, 18 and 21 and the presence of chromosome Y for twin pregnancies at a minimum gestational age of 10 weeks 0 days. NIPS relies on the presence of fragments of cell-free placental and maternal DNA in maternal blood to assess the risk of an affected pregnancy. Many factors, both maternal (maternal blood transfusion, surgery, organ transplant, immunotherapy, neoplasm, or mosaicism) and pregnancy-related (vanishing twin, fetal demise, confined placental mosaicism, true fetal mosaicism, uniparental disomy, and polyploidy), can affect the results. NIPS is intended for screening purposes only, thus false negative and false positive results occur. This analysis does not assess the risk for other conditions, including but not limited to birth defects, open spine or ventral wall defects, intellectual disability, single gene disorders, or chromosomal abnormalities other than those listed above. The PPV and NPV calculations reported do not take into account additional clinical information such as previous screening results, positive family history or abnormal ultrasound findings. It is the duty of the healthcare provider to interpret these results in the context of the patient's clinical and family history and to recommend genetic counseling and additional testing when appropriate. This test was developed and its performance characteristics determined by Invitae. It has not been cleared or approved by the FDA. The laboratory is regulated under the Clinical Laboratory Improvement Act (CLIA) as qualified to perform high-complexity clinical tests (CLIA ID: 05D2040778). This test is used for clinical purposes. It should not be regarded as investigational or for research.
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Invitae Singleton NIPS Core (chr 13, 18, 21)

Select add-on genes

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

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

For fetal sex prediction via the presence or absence of chromosome Y only.

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