Coverage Policy Manual - Arkansas Blue Cross and Blue Shield

Amniocentesis and/or Chorionic Villus Sampling to Detect Fetal Hereditary or Chromosomal Abnormalities

Description:

Amniocentesis involves the withdrawal of amniotic fluid for use in diagnosis and assessing various prenatal states. Under local anesthesia and ultrasound guidance, a needle is inserted into the amniotic sac, and amniotic fluid is withdrawn. According to the American College of Obstetrics and Gynecology Guidelines, amniocentesis should not be performed prior to 15 weeks fetal gestation because of the higher risk complications and of pregnancy loss compared with traditional amniocentesis (15 weeks of gestation or later). They base this on level “A” evidence (Good and consistent scientific evidence). ACOG guidelines go on to say, “Amniocentesis at 15 weeks of gestation or later is a safe procedure. The procedure-related loss rate after mid-trimester amniocentesis is less than 1 in 300 to 500 (based on level of evidence “B” - Limited or inconsistent scientific evidence).

Biochemical and serologic analysis of the fluid is performed, and cytogenetic determinations may be performed on cultured fetal cells obtained from the amniotic fluid. The fluid removed is used to diagnose fetal genetic abnormalities, assess fetal lung maturity, and establish the severity of hemolytic disease in blood group isoimmunization. The results can guide in the timing of cesarean section, fetal transfusion, or counseling related to the diagnosis of genetic disorders.

Chronic villus sampling (CVS) is a prenatal genetic testing procedure to obtain samples of villi, which are minute, finger-like projections on the fetal membrane surface of the chorionic tissue attached to the placenta.

Sampling involves a number of methods, including the transcervical (TC) route or the transabdominal (TA) route, with both methods requiring ultrasonic guidance by passing a catheter within the chorion frondosum site. Samples are drawn by aspirating tissue into a syringe attached distally to the catheter (TC route) or a needle (TA route).

According to the American College of Obstetrics and Gynecology, CVS should have the same risk of fetal loss or injury as amniocentesis, if performed by experienced individuals at experienced centers. The level of evidence for this safety is also level B.

Policy/
Coverage:

Amniocentesis and CVS are not medically necessary for all pregnancies.

Amniocentesis or chorionic villous sampling meet primary coverage criteria for effectiveness and are covered during the mid-trimester of pregnancy for the following conditions:

In pregnancies where the woman will be 35 years of age or over at the expected time of delivery; or
When a previous pregnancy has resulted in the birth of a child with chromosomal (e.g., Down's syndrome) or genetic abnormality or major malformations; or
When a chromosomal or genetic abnormality is known to exist in either parent; or
When a history of chromosomal or genetic abnormality is present in a blood relative; or
When there is a history of multiple (three or more) spontaneous abortions in this marriage or in a previous mating of either spouse;
When the fetus is at an increased risk for a hereditary error of metabolism detectable in vitro;
Only for amniocentesis, in pregnancies with Rh incompatibility sensitization;
Only for amniocentesis, when there is a question regarding fetal lung maturity;
Only for amniocentesis, when the fetus is at an increased risk for a neural tube defect (e.g., family history or elevated maternal serum alpha-fetoprotein level).

A relatively frequent indication for amniocentesis and CVS is for fetal sex determination in pregnancies at risk for an X-linked hereditary disorder. Such conditions would include:

Hemophilia;
X-linked mental retardation;
X-linked hydrocephalus;
Duchenne muscular dystrophy.

In these conditions, only the male child manifests the genetic abnormality and inherits the trait from the mother, who is a carrier but usually free of overt symptoms. Amniocentesis and CVS are not medically necessary when performed purely for sex determination in the absence of a documented increased risk of an X-linked disorder.

Rationale:

Amniocentesis and chorionic villus sampling have been used for a number of years to obtain cellular or tissue samples on which to perform genetic and chromosomal testing to determine if a fetus has inherited or congenital abnormalities. The tests are not without risk to the fetus, however. Randomized controlled trials have demonstrated that both procedures, when done in the first trimester, are associated with increased risk of fetal loss, amniotic fluid leakage, and talipes equinovarus (i.e., clubfoot) (Philip, 2004; Canadian Early & Mid-trimester Amniocentesis Trial, 1998; Sundberg, 1, 1997). The American College of Obstetrics and Gynecology now recommends against amniocentesis and chorionic villus sampling prior to15 weeks gestation (ACOG Practice Bulletin, #88).

2012 Update

There is no additional scientific literature identified that would prompt a change in the coverage statement.

2014 Update

This policy is being updated with a literature review through January 2014. There was no literature identified that would prompt a change in the coverage statement.

2015 Update

A literature search conducted through January 2015 did not reveal any new information that would prompt a change in the coverage statement. The key identified literature is summarized below.

Ekin and colleagues did a study to evaluate the incidences and chromosomal abnormality detection rates of various indications for genetic amniocentesis (Ekin, 2014). They retrospectively analysed 6,142 amniocentesis cases performed in a single centre between January 2007 and April 2013. They assessed the indications for prenatal diagnosis, fetal karyotypes, maternal ages, fetal ultrasound findings and maternal serum screening results. The most common indication for genetic amniocentesis was an abnormal maternal serum-screening test (36.6%), followed by advanced maternal age (28%), advanced maternal age and an abnormal maternal serum screening test (14.9%) and abnormal ultrasound findings (11.2%). The highest positive predictive values obtained from the indications included abnormal ultrasound findings and abnormal maternal serum screening test (12.9%) and advanced maternal age (12.2%). Although advanced maternal age and abnormal maternal serum screening tests were the most common indicators, their association with abnormal ultrasound findings should be identified to increase the efficacy of genetic amniocentesis.

2016 Update

A literature search conducted through January 2016 did not reveal any new information that would prompt a change in the coverage statement.

2017 Update

A literature search conducted through January 2017 did not reveal any new information that would prompt a change in the coverage statement.

2018 Update

Annual policy review completed with a literature search using the MEDLINE database through February 2018. No new literature was identified that would prompt a change in the coverage statement.

2019 Update

Annual policy review completed with a literature search using the MEDLINE database through February 2019. No new literature was identified that would prompt a change in the coverage statement.

2020 Update

Annual policy review completed with a literature search using the MEDLINE database through January 2020. No new literature was identified that would prompt a change in the coverage statement.

2021 Update

Annual policy review completed with a literature search using the MEDLINE database through January 2021. No new literature was identified that would prompt a change in the coverage statement.

2022 Update

Annual policy review completed with a literature search using the MEDLINE database through January 2022. No new literature was identified that would prompt a change in the coverage statement.

2023 Update

Annual policy review completed with a literature search using the MEDLINE database through January 2023. No new literature was identified that would prompt a change in the coverage statement.

2024 Update

Annual policy review completed with a literature search using the MEDLINE database through January 2024. No new literature was identified that would prompt a change in the coverage statement.

CPT/HCPCS:

References:

Ekin A, Gezer C, Taner CE.(2014) Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience. J Obstet Gynaecol. 2014 Oct;34(7):571-5. doi: 10.3109/01443615.2014.919577.

Invasive prenatal testing for aneuploidy. American College of Obstetricians and Gynecologists (ACOG); 2007 Dec. 9 p. (ACOG practice bulletin; no. 88). [50 references] (last accessed 2008-09).

Philip J, Silver RK, Wilson RD, et al NICHD EATA Trial Group.(2004) Late first-trimester invasive prenatal diagnosis: results of an international randomized trial. Obstet Gynecol, 2004; 103:1164-1173.

Sundberg K, Bang J, Smidt-Jensen S, et al.(1997) Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet, 1997; 350:697-703.

The Canadian Early & Mid-trimester Amniocentesis Trial (CEMAT) Group.(1998) Randomised trial to assess safety and fetal outcome of early and mid-trimester amniocentesis. Lancet, 1998; 351:242-247.

Group specific policy will supersede this policy when applicable. This policy does not apply to the Wal-Mart Associates Group Health Plan participants or to the Tyson Group Health Plan participants.
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