CellFree DNA Prenatal Screen

General Information

Lab Name

CellFree DNA Prenatal Screen

Lab Code

PDNAS

Epic Name

Cell-Free DNA Prenatal Screen

Description

  • The Cell-Free DNA Prenatal Screen assesses the copy number state for ALL 46 chromosomes, which allows for evaluation of both common aneuploidies (trisomy 13, 18, 21) and rare autosomal aneuploidies.
  • This screen does not provide diagnostic information. False-positive and/or false-negative results are possible. Thus, individualized patient-provider discussion is highly recommended prior to ordering, and clinical correlation is recommended for all results. Diagnostic testing should be offered to confirm screening results prior to any medical management decisions.
  • This screen is validated for individuals with a singleton or twin pregnancy of at least 10 weeks gestation and does not assess for neural tube defects.
  • Medical factors of the pregnant individual and/or chromosomal mosaicism in the placenta, the fetus(es), or the pregnant individual may impact results.
  • There are several differences in the information available from this screening test in singletons compared to twins:
    • Aneuploidy of the X or Y chromosome is evaluated only in a singleton pregnancy. It is not evaluated in twins.
    • Evaluation of both sex chromosomes is available upon request in singleton pregnancies. In twin pregnancies, evaluation for the presence of a Y chromosome is available upon request. If Y chromosome material is detected in a twin gestation, this screen cannot distinguish whether it is present in one or both fetuses.
    • Positive screening results in twin gestations cannot resolve whether one or both fetuses are at risk.

Ordering Requirements

Singleton and twin pregnancies
For orders submitted electronically via Epic, providers must complete the clinical questions in the order.

Submissions from outside (reference lab) clients must be accompanied by a completed UW Genetics Clinical Lab Request form.

This screen is not validated for triplets or higher order multiple gestations.

Synonyms

cell-free fetal DNA, cfDNA, Down syndrome, fetal chromosome aneuploidy screen, NIPS, NIPT, noninvasive prenatal screening, noninvasive prenatal testing, Placental DNA, Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome, twin

Components

Code Name
PDNAP cfDNA Panel
PDNAX cfDNA Sex Chromosomes
PDNAR cfDNA Result
PDNAI cfDNA Interpretation
PDNAF cfDNA Predicted Fetal Fraction
PDNAC cfDNA Comment
PDNAM cfDNA Method
PDNAGC cfDNA Genetic Counselor
PDNADI cfDNA Director

Interpretation

Method

Massively parallel sequencing of total cell-free DNA (cfDNA)

Reference Range

See individual components

Guidelines

Ordering & Collection

Specimen Type

Whole blood

Collection

Two 10 mL whole blood in Streck Cell-Free DNA BCT® tubes (mottled black and tan).

Gently mix blood by inverting tube 8-10 times.

Do not send samples via pneumatic tube system. Samples collected in Streck tubes must be walked to the laboratory.

Forms & Requisitions

UW Genetics Clinical Lab Request

Handling Instructions

Walk samples to the laboratory after collection. Do NOT use the pneumatic tube system, as this may compromise the sample.

Quantity

requested: 20 mL whole blood
minimum: 7 mL whole blood

Processing

Store whole blood at room temperature. Do not freeze. For orders not placed in Epic, a completed UW Genetics Clinical Lab Request form is required.

At the cfDNA Panel (PDNAP) prompt:

  • Singleton:
    • Enter PSFULL for Full prenatal screen for all 46 chromosomes, autosomes PLUS sex chromosome aneuploidies.
    • Enter PSAU for Limited prenatal sreen for autosomes ONLY.
  • Twin:
    • Enter PTFULL for Full prenatal screen for all 46 chromosomes, autosomes PLUS presence of Y chromosome.
    • Enter PTAU for Limited prenatal screen for autosomes WITHOUT the Y chromosome.

Stability: Ambient, 5 days.

Performance

LIS Dept Code

Genetics (GEN)

Performing Location(s)

UW-MT Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email: cgateam@uw.edu

Tel (EXOME only): 206-543-0459

Manager
Joe Bernal

Genetic Counselors
Angela Jacobson, MS, LGC
Sandra Coe, MS,LGC
Dru Leistritz, MS, LGC(EXOME testing only)

Variant Review Scientist
Ankita Jhuraney, PhD
Sarah Paolucci, MA, MS, LGC
Catherine A. Darcey, MSc
Daniel W. Serber, PhD, MS, LCGC

Faculty
Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Christina Lockwood, PhD, DABCC, DABMGG
Brian Shirts, MD, PhD
Abbye McEwen, MD, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD

Frequency

Turnaround time 8-10 business days

Available STAT?

No

Billing & Coding

CPT codes

81420

Billing Comments

81420

LOINC

73967-2

Interfaced Order Code

UOW3338