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	Chromosomal Defects Prenatal cfDNA first trimester ultrasound for nuchal translucency, maternal serum screen, first and second trimester anatomy ultrasound	Neural Tube Defects Second trimester ultrasound, Second trimester blood test (AFP)	Congenital Heart and other defects Second trimester ultrasound	Carrier Screening Expanded carrier screening for recessive and X-linked conditions
Diagnostic Tests	Chromosomal Defects Amniocentesis, chorionic villus sampling	Neural Tube Defects Amniocentesis	Congenital Heart and other defects Confirmatory ultrasound and fetal echocardiogram	Carrier Screening Amniocentesis and confirmatory genetic testing

Timeline of Prenatal Genetic Tests

Prenatal Test Type	Test Details	When to Test
Prenatal Test Type Prenatal/ Pre-Pregnancy Carrier Screening	Test Details 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.	When to Test Ideally done in the pre-pregnancy stage, but can also be done at any time during pregnancy.
Prenatal Test Type Cell- free DNA Screening or Non-Invasive Prenatal Screening (NIPS)	Test Details 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.	When to Test Starting at 10 weeks
Prenatal Test Type First Trimester Screening	Test Details 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.	When to Test 10-13 weeks
Prenatal Test Type Chorionic Villus Sampling (CVS)	Test Details 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.	When to Test 10-14 weeks
Prenatal Test Type Integrated Screening and Sequential Screening	Test Details 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.	When to Test 10-22 weeks
Prenatal Test Type Amniocentesis	Test Details 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.	When to Test 14-20 weeks
Prenatal Test Type Second Trimester Screening or a Quad	Test Details 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.	When to Test 15-22 weeks
Prenatal Test Type Second Trimester Standard Ultrasound Exam	Test Details Screens for physical defects and fetal sex. This screen is an ultrasound that monitors the fetus.	When to Test 18-22 weeks

Resources

DOH Videos

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

DOH Resources

Aneuploidy Screening and Neural Tube Defects Fact Sheet for Providers (PDF)
Help Your Patient Make an Informed Decision (YouTube)
Genetics Glossary (PDF) of Prenatal Terms (link)
Refer a patient to a prenatal genetic clinic

Other Resources

Chapter 246-680 WAC: Chapter 246-680 of the Washington State Administrative Code (WAC) State is the Rule that establishes the standards for screening and diagnostic procedures for prenatal diagnosis of congenital disorders of the fetus under RCW 48.21.244, 48.44.344, and 48.46.375; and to establish criteria and timelines regarding the availability and use of prenatal tests for health care providers to share with pregnant women and couples as required under RCW 70.54.220.
Payer Coverage
Aging and Reproduction
NIPT Summary of Recommendations from ACOG for non-genetic providers
Table of Key Recommendations for Practice
Characteristics of Aneuploidy Screening Tests

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
CPT Codes 81420	Prior Authorization EPA Expedited Prior Auth	WA HCA Fee $736.89	Description Fetal Chromosomal Aneuploidy	Long Description 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
CPT Codes 81507	Prior Authorization EPA Expedited Prior Auth	WA HCA Fee $771.79	Description Fetal Aneuploidy Trisomy Risk	Long Description 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
CPT Codes 81422	Prior Authorization PA Prior Authorization	WA HCA Fee $736.89	Description Fetal chromosomal microdeletion	Long Description 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.
CPT Codes 82105	Prior Authorization None	WA HCA Fee $16.28	Description Alpha-fetoprotein serum	Long Description Alpha-fetoprotein (AFP) level, serum
CPT Codes 84179	Prior Authorization EPA/PA/ 1 per lifetime	WA HCA Fee By Report	Description Unlisted molecular pathology proc	Long Description

Carrier Screening Codes and Preauthorization Requirements

CPT Codes		WA HCA Fee	Description	Long Description
CPT Codes 81220	None/1 per lifetime	WA HCA Fee $540.35	Description Cftr gene com variants	Long Description Gene analysis (cystic fibrosis transmembrane conductance regular) common
CPT Codes 81243	None/1 per lifetime	WA HCA Fee $55.37	Description Fmr1 gene detection	Long Description Gene analysis (fragile X mental retardation) abnormal alleles
CPT Codes 81329	PA/ 1 per lifetime	WA HCA Fee $133.00	Description Smn1 gene dos/ deletion analysis	Long Description Gene analysis (survival of motor neuron, 1 telomeric) for dosage/deletion
CPT Codes 81412	PA/ 1 per lifetime	WA HCA Fee $2,377.06	Description Ashkenzai Jewish assoc dis	Long Description Test for detecting genes for disorders related to Ashkenzai Jews, genomic
CPT Codes 81443	PA/ 1 per lifetime	WA HCA Fee $2,377.06	Description Genetic testing for severe inherited conditions	Long Description Genomic sequence analysis panel for severe inherited conditions with sequencing
CPT Codes 81200	None/1 per lifetime	WA HCA Fee $45.87	Description Aspa gene	Long Description Gene analysis (aspartoacylase)
CPT Codes 81209	PA	WA HCA Fee $38.16	Description Blm gene	Long Description Gene analysis (Bloom syndrome, RecQ helicase-like)
CPT Codes 81242	PA/1 per lifetime	WA HCA Fee $35.55	Description Francc gene	Long Description Gene analysis (Fanconi anemia, complementation group C) common variant
CPT Codes 81251	PA/ 1 per lifetime	WA HCA Fee $45.87	Description Gba gene	Long Description Gene analysis (glucosidase, beta, acid) common variants
CPT Codes 81255	PA/ 1 per lifetime	WA HCA Fee $49.95	Description Hexa gene	Long Description Gene analysis (hexoamindase A) common variants
CPT Codes 81257	None/1 per lifetime	WA HCA Fee $99.27	Description Hba1/Hba2 gene	Long Description Gene analysis (alpha globlin 1 and alpha globlin 2) for common deletions
CPT Codes 81260	PA/ 1 per lifetime	WA HCA Fee $38.16	Description Ikbkap gene	Long Description Gene analysis (inhibitor of kappa light polypeptide gene enhancer in B-Cells
CPT Codes 81290	PA/ 1 per lifetime	WA HCA Fee $38.16	Description Mcoln 1 gene	Long Description Gene analysis (mucolipin 1) common variants