EFFECTIVE DATE: January 1, 2020
PURPOSE: The purpose of this guideline is to provide criteria used by Utilization Management to review requests for non-invasive prenatal testing. The goal of Community Health Choice (Community) in adopting these guidelines is not to disrupt the physician-patient relationship, nor to diminish physician autonomy. Instead, it is to promote patient safety and improve clinical outcomes through the adherence of evidence-based practices.
This guideline does not address eligibility or benefit coverage. Other Policies and Coverage Determination Guidelines may apply. All reviewers must first identify enrollee eligibility, any federal or state regulatory requirements and the plan benefit coverage prior to use of this Medical Review Guideline (Guideline). If there is a discrepancy between this Guideline and a Member's benefit plan, summary plan description or contract, the benefit plan, summary plan description or contract will govern. Community reserves the right, in its sole discretion, to modify its Policies and Guidelines as necessary.
TARGET AUDIENCE: This guideline is intended for providers in the following specialties: Family Medicine, Laboratories, Obstetrics/Gynecology, and Maternal-Fetal Medicine.
Aneuploidy is defined as having one or more extra or missing chromosomes, leading to an unbalanced chromosome number in a cell.
The incidence of fetal aneuploidy increases as a woman ages but can affect any woman regardless of age and is not related to race or ethnicity. Other factors do however increase the risk of fetal aneuploidy including a history of a prior pregnancy with fetal aneuploidy or the presence of fetal anomalies.
The most common aneuploidies not related to sex chromosome disorders are the autosomal trisomies with Down syndrome (trisomy 21) being the most common.
The most common sex chromosome aneuploidy is Klinefelter syndrome (47, XXY). The only viable monosomy is Turner syndrome (45, X).
This test screens for trisomy 21, trisomy 18, and trisomy 13, and the sex chromosomes aneuploidies.
Circulating cell-free DNA (which are short fragments of DNA--cfDNA) in the maternal circulation come from both the mother and the fetal-placenta unit. Maternal hematopoietic cells are the source of most of the maternal cfDNA, but the primary source of the fetal cfDNA is the apoptosis of the placental cell.
cfDNA screening currently gives information about the three most common aneuploidies and about fetal sex chromosomes but does not typically provide information about other aneuploidies.
cfDNA testing is the most sensitive screening option for these aneuploidies: trisomy 21, trisomy 18, and trisomy 13
cfDNA testing can be performed as early as 10 weeks to term.
Because of limited evidence regarding its efficacy, cell-free DNA testing is not recommended for aneuploidy screening in women with multiple gestations (since data regarding the risk of aneuploidy are more limited in multiple gestations compared with singleton pregnancies). No method of aneuploidy screening is as accurate in twin gestations as it is in in singleton pregnancies.
cfDNA testing is also known as non-invasive prenatal testing (NIPT)
Screening for fetal aneuploidy, and ALL of the following are documented: