Prenatal Aneuploidy Screening

Prenatal screening tests help identify pregnancies at increased risk for Down syndrome, trisomy 18, or open neural tube defects such as spina bifida. These tests have traditionally been performed in the second trimester and measure the levels of specific protein markers in maternal blood. Newer tests now combine first-trimester fetal ultrasound measurements along with measurements of biochemical markers in maternal blood to predict risk. ARUP offers second-trimester as well as first-trimester, integrated, and sequential screens.

* Sonographer providing NT measurement must be certified by NTQR (SMFM) or FMF. Please contact a genetic counselor at (800) 242-2787 x2141 prior to sending first sample to ensure acceptability.


Detailed test changes effective February 20, 2018

Effective February 20, 2018 the following changes will be implemented with the new maternal serum screen tests. This is information is in addition to the quarterly hotline documents.

ARUP Laboratories encourages clients to hold off transmitting interface orders for these tests and sending specimens from Sunday night (February 18, 2018) until Tuesday morning (February 20, 2018). Any tests transmitted during this time will require ARUP to replace the test with a manual order for the new test and these results will not transmit over client’s electronic interfaces.

1. Required information can now be entered electronically through client interface instead of on the ARUP patient history form.

Click here for a list of suggested entries for required information.
Clients who wish to continue using the paper form can access the updated patient history form here.

(This revised form is not effective until February 20, 2018)

2. Changes in risk calculation for Open Neural Tube Defects (ONTD)

Reporting of twin results has been simplified. Expected twin AFP MoMs will now be twice that expected in a singleton (median singleton MoM: 1.00; median twin MoM: 2.00)

Cutoffs will be as follows:

  • Singleton: 2.50 MoM
  • Twins: 4.50 MoM
  • Diabetic (singleton): 1.90 MoM
  • Diabetic (twins): 2.94 MoM

3. Change to Down syndrome risk calculation

Smoking will now be factored into the risk calculation.

4. Changes to patient report

  • Maternal race will be reported as black, nonblack, or unknown
  • Maternal weight will be reported in the units of measurement provided to ARUP (pounds or kilograms)
  • Units of measurement for PAPP-A will now be reported as ng/mL
  • PAPP-A MoMs will no longer be reported on Integrated-1 reports but will be listed as part of the Integrated-2 reports
  • Units of measurement for CRL will now be reported in millimeters (mm)
  • Interpretation verbiage and formatting will change
  • Enhanced Electronic Lab Reports will not be available until later in May. This will not impact interfaced/LIS results, as well as the Connect test format chart will not be affected

5. Repeat screens will only provide NTD risk

Down syndrome and trisomy 18
  • A repeat maternal serum screen will not provide Down syndrome or trisomy 18 risks if the original screen provided risks, and the original sample was drawn within the appropriate gestational age window for the test ordered.
NTD
  • Risks will be provided on repeat specimens

Please refer inquiries about these changes to an ARUP genetic counselor at 800-242-2787 x2141.


Serum Screening Information

NIPT Information

Test # Test Name Additional Information Test Keywords
2007537 Non-Invasive Prenatal Testing for Fetal Aneuploidy Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen
2013142 Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion Additional Technical Information Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen
2010232 Non-Invasive Prenatal Testing for Fetal Aneuploidy with Microdeletions Non-Invasive Prenatal Testing (Cell-Free DNA) NIPTANEUMD, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, Microdeletion, deletion, DiGeorge, Velocardiofacial, VCF, VCFS, 22q, del22, Angelman, Prader-Willi, 15q, PWS, 5p-, 5p, cri du chat, cri-du-chat, 1p36, InformaSeq, Qnatal, Pregnancy Screen
3000149 Maternal Serum Screening, Integrated, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A Additional Technical Information Serum Screening—First- and Second-Trimester Combined MS INT2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
3000145 Maternal Serum Screen, First Trimester, hCG, PAPP-A, NT Additional Technical Information Serum Screening—First-Trimester MS FTS, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG
3000148 Maternal Screening, Sequential, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A Additional Technical Information Serum Screening—First-Trimester MS SEQ2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
3000146 Maternal Screening, Sequential, Specimen #1, hCG, PAPP-A, NT Serum Screening—Second-Trimester MS SEQ1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
3000147 Maternal Serum Screening, Integrated, Specimen #1, PAPP-A, NT Additional Technical Information Serum Screening—Second-Trimester MS INT1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
3000144 Maternal Serum Screen, Alpha Fetoprotein Serum Screening—Second-Trimester MS AFP, Prenatal Screening, NTD, neural tube defects, second trimester
3000143 Maternal Serum Screen, Alpha Fetoprotein, hCG, Estriol, and Inhibin A (Quad) Serum Screening—Second-Trimester MS QUAD, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester