Prenatal Screening & Diagnostic Testing: Indications, Risks, Medical Necessity, and Independent Review
Prenatal screening and diagnostic testing are vital tools in effective prenatal care. Learn more about the indications, risks involved, and how to determine medical necessity for these procedures as well as how to use independent medical review to enhance patient care and achieve high-quality, defensible determinations.
Prenatal screening and diagnostic testing are vital tools in effective prenatal care but there are considerations in determining when such testing should be performed. Indications, risks involved, and medical necessity should all be taken into account and independent medical review should be utilized to insure effective patient care and provide high-quality, defensible determinations.
Indications for prenatal screening and diagnostic testing are any conditions that increase the risk of chromosomal anomaly. These risks include:
• Advanced maternal age (≥ 35 years)
• Previous offspring with chromosomal anomalies or other birth defects
• Parental balanced translocation and/or inversion (results in recurrent pregnancy loss)
• Suggestive fetal ultrasound findings
• Positive maternal screening test findings
• Mother having a disease or being exposed to drugs, medications, or infections known to be associated with congenital malformations in the fetus
• Mendelian genetic trait in the parents
• Molecular DNA diagnosis (cystic fibrosis, fragile X)
• Enzymatic activities in villi and/or amniocytes
When considering any prenatal screening or diagnostic testing, limitations and potential risks must also be considered. Potential risks include anxiety for the mother, pain, and miscarriage. These must be weighed against the value of knowing the results.
Limitations of screening include a lack of a definitive diagnosis. This can lead to increased anxiety in women with an unaffected pregnancy, as well as false reassurance in others. Another limitation is the variability in detection rates, false-positive rates, screening cut-offs, and anatomical ultrasound markers included in the screen based on the particular laboratory and/or provider used. Detection rates for screening in multiple gestations are generally decreased from those of singletons as well.
There are also factors limiting available options for screening that must be taken into account. These include gestational age of the patient, state regulations, insurance coverage and out-of-pocket costs, laboratory contracts, availability of laboratory draw sites, access to nuchal translucency (NT) providers, and access to physicians who perform CVS or amniocentesis.
In determining medical necessity for prenatal screening and diagnostic testing, health plan coverage must be taken into account. Most health plans do offer coverage for these tests when specific criteria are met.
Some sample plan language includes the following:
• Prenatal screening via maternal serum analysis (first and/or second trimester) with NT measurement may be covered for all pregnant women within the prescribed time frame for each of the maternal serum screening options.
• Non-invasive prenatal testing for fetal aneuploidies trisomy 21, 13, and 18 using tests that analyze circulating cell-free DNA extracted from a maternal blood sample is covered when appropriate genetic counseling occurs prior to testing and the member meets one of the following criteria.
- The member is of advanced maternal age, defined as age 35 or over at the time of delivery or;
- The member has fetal aneuploidy screening test results including maternal serum screening and/or an ultrasound evaluation indicating an increased probability of trisomy 21.
• Prenatal diagnostic genetic testing (via amniocentesis or CVS) will be covered for pregnant women when the member has received genetic counseling by a genetic counselor, the reason for testing is documented, and the testing is ordered by a family practice physician providing OB services or by an obstetrician. Common indications for prenatal diagnosis include but are not limited to abnormal fetal ultrasound findings, abnormal maternal serum first-trimester screening, second-trimester triple or quad screen, integrated or alpha-fetoprotein, elevated MSAFP, or increased risk based on documented family history or carrier status.
• Prenatal diagnostic genetic testing is not a covered benefit for sex determination unless medically indicated, prenatal determination of paternity, or pre-conceptual testing of sperm, ova, or embryos for use in assisted reproductions, such as artificial insemination or IVF.
Independent medical review is a valuable tool for high-quality, defensible determinations in coverage for prenatal screening and diagnostic testing. It looks at whether or not a specific procedure or test was medically necessary based on stated medical policy and published criteria.
Independent review also facilitates safe and effective treatment of patients by insuring that medical necessity is supported by thorough clinical documentation of maternal and family health history, screening/testing results, and genetic counseling. It further promotes effective care of patients by providing reviewers with an in-depth understanding of the continually evolving prenatal screening and diagnostic testing modalities and controls overutilization.
Reviews are designed to meet a variety of needs including pre-authorizations, internal and external appeals, state and federal appeals, concurrent review of in-patient stay and provider quality of care, and fraud reviews.
When you choose an independent review organization, such as AllMed, you gain access to more than 400 peer review specialists, covering more than 80 ABMS specialties and sub-specialties. These peer review specialists are on the cutting edge of the latest medical research and standards of care and can provide faster turnaround times, remove bias, and eliminate conflicts of interest due to economics, lack of specialists, or the necessity of having the same doctor that denied the case review the appeal.
Prenatal screening and diagnostic procedures can provide timely and informative clinical results. By taking into account the indications and risks for these procedures, and taking a thorough look at medical necessity as well as appropriate use of independent medical review, patient care and safety are greatly enhanced.