Card kit

Invitae Twin NIPS (chr 13, 18, 21)

Test code: 71002

Fast turnaround

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

Test description

Invitae Non-invasive Prenatal Screening (NIPS) for Twin 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)

Y chromosome analysis can also be included to determine if at least one twin is male. However, the presence of the Y chromosome cannot differentiate between one male twin or two male twins. To include predicted fetal sex prediction (Y chr only) in your order, please select the add-on.

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.

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 Twin NIPS (chr 13, 18, 21)

Select add-on genes

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

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