Prenatal Genetic Screening Resources for Providers

Washington State Law (RCW 70.54.220) says that doctors, nurses, and midwives should provide information about prenatal screening to all pregnant persons. A health care provider can detect some genetic and physical differences prenatally, but some can’t be detected until after birth.

Prenatal Screening

Prenatal screening during pregnancy can help identify information on fetal health such as congenital disorders and genetic conditions.

Prenatal screening can identify structural and functional abnormalities of the fetus, including:

  • chromosomal abnormalities
  • congenital heart conditions
  • other congenital conditions
  • hemoglobinopathies

Chromosome Abnormalities

Chromosome abnormalities can occur in any pregnancy, regardless of prior pregnancy history and family history.

These chromosomal abnormalities include:

  • aneuploidy
  • translocations
  • duplications
  • deletions

  Aneuploidy Screening and Neural Tube Defects Fact Sheet for Providers

This resource was created by the Washington State Department of Health's Prenatal Genetics Task Force to equip non-genetic providers with recommendations, workflows, and guidelines when ordering prenatal genetic screening.

Conditions Detected by Prenatal Genetic Testing

  Chromosomal Defects Neural Tube Defects Congenital Heart and other defects Carrier Screening
Screening Tests

Prenatal cfDNA first trimester ultrasound for nuchal translucency, maternal serum screen, first and second trimester anatomy ultrasound

Second trimester ultrasound, Second trimester blood test (AFP)

 Second trimester ultrasound Expanded carrier screening for recessive and X-linked conditions
Diagnostic Tests

Amniocentesis, chorionic villus sampling

 Amniocentesis Confirmatory ultrasound and fetal echocardiogram Amniocentesis and confirmatory genetic testing

Timeline of Prenatal Genetic Tests

Prenatal Test Type Test Details When to Test
Prenatal/ Pre-Pregnancy Carrier Screening

Test detects whether fetus is at risk for certain recessively inherited disorders by testing whether the patient or partner or both are carriers of specific mutations in the same gene.

Test requires blood or tissue sample from cheek from prenatal patient and partner.

 Ideally done in the pre-pregnancy stage, but can also be done at any time during pregnancy.
Cell- free DNA Screening or Non-Invasive Prenatal Screening (NIPS)

Screens for Down syndrome (trisomy 21), trisomy 18, trisomy 13, and sex chromosome abnormalities.

This screen is a blood test that samples the pregnant patient's blood for some of the unborn baby's DNA that circulates in the patient's bloodstream.

 Starting at 10 weeks
First Trimester Screening

This test screens for Down syndrome (trisomy 21) and trisomy 18.

This screen is a blood test and an ultrasound. The blood test measures the amounts of 3 substances in a pregnant patient's blood produced by the fetus and/or placenta- AFP, Hcg, and uE3. The ultrasound measures the baby's nuchal translucency which is a fluid filled space behind the baby's neck.

 10-13 weeks
Chorionic Villus Sampling (CVS)

This diagnostic test detects Down syndrome (trisomy 21), trisomy 18, trisomy 13, other inherited disorders if testing is requested, but not neural tube defects.

This is a diagnostic but invasive test done on the fetus where a sample of the chorionic villi from the fetus are collected by a syringe through the cervix.

 10-14 weeks
Integrated Screening and Sequential Screening

Screens for Down syndrome (trisomy 21), trisomy 18, trisomy 13, and neural tube defects.

This screen is a combination of the first trimester ultrasound and the first and second trimester blood tests on the pregnant patient.

 10-22 weeks
Amniocentesis

Detects Down syndrome (trisomy 21), trisomy 18, trisomy 13, some types of neural tube defects, and other inherited disorders if testing is requested.

This is a diagnostic but invasive test done on the fetus where fetal cells in a sample of amniotic fluid are collected by a syringe through the abdominal wall.

 14-20 weeks
Second Trimester Screening or a Quad

Screens for Down syndrome (trisomy 21), trisomy 18, and neural tube defects

This screen is a blood test that samples the pregnant patient's blood for 4 substances - the 3 from the first trimester screen, and a 4th substance, Inhibin-A, produced by the placenta and ovaries.

 15-22 weeks
Second Trimester Standard Ultrasound Exam

Screens for physical defects and fetal sex.

This screen is an ultrasound that monitors the fetus.

 18-22 weeks

Resources

DOH Videos

Play individual videos below or view the whole series on our YouTube channel.

DOH Resources
Other Resources

Insurance Frequently Asked Questions for Providers

Prior Authorization

Is prior authorization required for prenatal cf-DNA (NIPT) testing?

There are some health plans requiring physicians to go through prior authorization. Each health plan will require various information. Most plans that require prior authorization also require documentation or attestation of patient counseling and/or a patient counseling plan.
Obstetric clinicians should document in the patient record the discussion of prenatal testing with the patient, including discussions and questions that cover:

  • Chromosomal disorders
  • Review of relevant personal and family history
  • Risks, limitations, and benefits of available testing options
  • Detection rate for each test  
  • The concept of residual risk for negative screening results
  • Patient preference regarding comprehensive prenatal detection (for diagnostic testing recommendation)
  • The screening approach recommended (for patients requesting a screen)
  • Treatment plan or additional counseling (if applicable)

(Prior Authorization ACOG)

What options exist if the prior authorization is denied?

It may be necessary to appeal a prior authorization denial if the health plan has not yet updated their coverage to include NIPT testing or cell-free DNA screening for average-risk patients.

ACOG maintains a letter template that may be used if the patient care demonstrates the medical necessity of NIPT ordered for the patient. The template is intended for you to demonstrate medical necessity through clinically relevant information, including any additional documents.

Please note that this letter is not intended to promote changes to private payer’s coverage policies surrounding NIPT. Also note that if the payer in question’s coverage policies indicate that NIPT is not medically necessary or is not covered in all circumstances, the appeal will not be successful.

Important: When drafting and sending these letters, please securely send protected health information to avoid any unnecessary breaches of sensitive data.

(Prior Authorization ACOG)

Letter Template for Prior Authorization Denial Appeal

ACOG maintains a letter template for providers to send back to payers when they receive a claims denial notification.

CPT Codes and Billing

What are some of the CPT Codes that may be relevant for prenatal cf-DNA testing?

Codes listed below represent the common aneuploidy panel with or without sex chromosome analysis. If ordering an expanded panel, please ask the performing laboratory if additional CPT codes apply. Some laboratories may employ a bundled coding system for testing, and health plans may include or exclude certain codes. Please refer to the specific health plan coverage for additional information. In general, the codes for NIPT testing are:

  • 81420: Fetal chromosomal aneuploidy (e.g., trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21
  • 81422: Fetal chromosomal microdeletion(s) genomic sequence analysis (e.g., DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood
  • 81479: Unlisted molecular pathology procedure
  • 81507: Fetal aneuploidy (trisomy 21, 18 and 13) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy
  • 0060U: Twin zygosity, genomic targeted sequence analysis of chromosome 21, using circulating cell-free fetal DNA in maternal blood
  • 0168U: Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma without fetal fraction cutoff, algorithm reported as a risk score for each trisomy

(Prior Authorization ACOG)

Does the Washington State Health Care Authority (HCA), the state Medicaid payer, have a standard set of policies and coverage for prenatal genetic testing?

The primary driver of coverage for the HCA is “medical necessity”. The complete list of policies are in the Professional Services guide (PDF). However, they are not in any single location in the guide but distributed throughout. This can also be found on the Health Technology Clinical Committee (HTCC) page on the HCA website.

What are some billing codes used for prenatal genetic testing by the HCA and what are their preauthorization requirements and reimbursement rates?

While the fee schedule changes periodically, sometimes every quarter, the table below highlights the current fee schedule for the prenatal genetics physician billing codes as of August 2023.

Cell Free DNA Testing Codes and Authorization Requirements

CPT Codes

Prior Authorization

WA HCA Fee

Description

Long Description

81420

EPA Expedited Prior Auth

$736.89

Fetal Chromosomal Aneuploidy

Test for detecting genes associated with fetal disease, fetal chromosomal aneuploidy (e.g., trisomy 21, monosomy x) genomic sequence analysis panel, circulating cell-free DNA in maternal blood, must include analysis of chromosomes 13,18, and 21

81507

EPA Expedited Prior Auth

$771.79

Fetal Aneuploidy Trisomy Risk

DNA analysis using maternal plasma for fetal aneuploidy DNA sequencing of selected regions, using maternal plasma, algorithm reported as a risk score for each trisomy

81422

PA Prior Authorization

$736.89

Fetal chromosomal microdeletion

Test for detecting genes associated with fetal disease, microdeletion (s), fetal chromosomal microdeletion (s), genomic sequence analysis (e.g., DiGeorge syndrome, cri-du-chat syndrome) circulating cell-free fetal DNA in maternal blood.

82105

None

$16.28

Alpha-fetoprotein serum

Alpha-fetoprotein (AFP) level, serum

84179

EPA/PA/ 1 per lifetime

By Report

Unlisted molecular pathology proc

 

Carrier Screening Codes and Preauthorization Requirements

CPT Codes

 

WA HCA Fee

Description

Long Description

81220

None/1 per lifetime

$540.35

Cftr gene com variants

Gene analysis (cystic fibrosis transmembrane conductance regular) common

81243

None/1 per lifetime

$55.37

Fmr1 gene detection

Gene analysis (fragile X mental retardation) abnormal alleles

81329

PA/ 1 per lifetime

$133.00

Smn1 gene dos/ deletion analysis

Gene analysis (survival of motor neuron, 1 telomeric) for dosage/deletion

81412

PA/ 1 per lifetime

$2,377.06

Ashkenzai Jewish assoc dis

Test for detecting genes for disorders related to Ashkenzai Jews, genomic

81443

PA/ 1 per lifetime

$2,377.06

Genetic testing for severe inherited conditions

Genomic sequence analysis panel for severe inherited conditions with sequencing

81200

None/1 per lifetime

$45.87

Aspa gene

Gene analysis (aspartoacylase)

81209

PA

$38.16

Blm gene

Gene analysis (Bloom syndrome, RecQ helicase-like)

81242

PA/1 per lifetime

$35.55

Francc gene

Gene analysis (Fanconi anemia, complementation group C) common variant

81251

PA/ 1 per lifetime

$45.87

Gba gene

Gene analysis (glucosidase, beta, acid) common variants

81255

PA/ 1 per lifetime

$49.95

Hexa gene

Gene analysis (hexoamindase A) common variants

81257

None/1 per lifetime

$99.27

Hba1/Hba2 gene

Gene analysis (alpha globlin 1 and alpha globlin 2) for common deletions

81260

PA/ 1 per lifetime

$38.16

Ikbkap gene

Gene analysis (inhibitor of kappa light polypeptide gene enhancer in B-Cells

81290

PA/ 1 per lifetime

$38.16

Mcoln 1 gene

Gene analysis (mucolipin 1) common variants