CAM 40102

Prenatal Genetic and Chromosomal Metabolic Testing

Category:Ob/Gyn/Reproduction   Last Reviewed:December 2020
Department(s):Medical Affairs   Next Review:December 2999
Original Date:December 1995    

Description:
Two of the prenatal genetic and chromosomal metabolic tests are amniocentesis and chorionic villus sampling.

Amniocentesis involves the withdrawal of amniotic fluid for use in diagnosing and assessing various prenatal states. Under local anesthesia and ultrasound guidance, a needle is inserted into the amniotic sac, and amniotic fluid is withdrawn.

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 then 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.

Chorionic villus sampling (CVS) is a prenatal genetic testing procedure that may be performed in the later part of the first trimester of pregnancy.

CVS is performed by obtaining 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).

CVS permits the diagnosis of genetic disease in the fetus as early as the eighth week of gestation, compared to amniocentesis, which is performed following the 16th week.

Policy:
Amniocentesis and CVS are not medically necessary for all pregnancies. They are MEDICALLY NECESSARY for the specific indications listed under the Policy Guidelines.

Policy Guidelines:
Amniocentesis and CVS are MEDICALLY NECESSARY when any one of the following conditions exist as specified:

  1. In pregnancies where the woman will be 35 years of age or over at the expected time of delivery
  2. When a previous pregnancy has resulted in the birth of a child with chromosomal (e.g., Down syndrome) or genetic abnormality or major malformations
  3. When a chromosomal or genetic abnormality is known to exist in either parent
  4. When a history of chromosomal or genetic abnormality is present in a blood relative
  5. When there is a history of multiple (three or more) spontaneous abortions in this marriage or in a previous mating of either spouse
  6. When the fetus is at an increased risk for a hereditary error of metabolism detectable in vitro
  7. Only for amniocentesis, in pregnancies with Rh incompatibility sensitization
  8. Only for amniocentesis, when there is a question regarding fetal lung maturity
  9. 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 infrequent indication for amniocentesis and CVS is for fetal sex determination in pregnancies at risk for an X-linked hereditary disorder. Such conditions would include the following:

  • 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.

Benefit Application
Reimbursement for amniocentesis should include any required supervision and interpretation of an ultrasonic guidance or the supervision, interpretation or performance of sonography (ultrasound) as part of the procedure. No separate reimbursement should be provided.

Both should be covered as a diagnostic surgical procedure or under maternity benefits, depending on contract or certificate of coverage language.

Payment should not be made for both CVS and amniocentesis on the same patient during a pregnancy unless specific medical justification for doing both tests is provided, which may include confirmation of chromosomal abnormalities detected with CVS.

The use of these tests as a routine screening for all pregnant women is NOT MEDICALLY NECESSARY  and should not be covered.

When these procedures are performed on an inpatient basis, some justifiable underlying condition of sufficient severity that warranted hospitalization must have been present.

Reimbursement for the office or outpatient visit should be part of the procedure if the visit is for CVS. The ultrasound examination and ultrasonic guidance are included with the chorionic villus sampling.

References:

  1. Staessen C, Platteau P, Van Assche E, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: A prospective randomized controlled trial. Hum Reprod. 2004;19(12):2849-2858.
  2. Twisk M, Mastenbroek S, van Wely M, et al. Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection. Cochrane Database Syst Rev. 2006;(1):CD005291.
  3. Sierra S, Stephenson M. Genetics of recurrent pregnancy loss. Semin Reprod Med. 2006;24(1):17-24. 

Coding Section 

Codes Number Description
CPT 59000 Amniocentesis, any method
  59015 Chorionic villus sampling
  76945 Ultrasonic guidance for chorionic villus sampling, radiological supervision, and interpretation
  76946 Ultrasonic guidance for amniocentesis, radiological supervision and interpretation
  83661 Amniotic fluidl L/S ratio
  88235 Cytogentetic studies: amniotic fluid or chorionic villus
  88267 Chromosome analysis: amniotic fluid or chorionic villus, count 15 cells, 1 karyotype, with banding
  88269

Chromosome analysis, in situ for mniotic fluid cells, count cells from 6 - 12 colonies, 1 karyotype with banding

NOTE: In cases of analysis for a specific defect, the code applicable is that for the disease itself (i.e., in analyzing for gucosidase-beta deficiency, the appropriate code is 82963, the code for this specific enzyme defect)

ICD-9 Procedure  75.1 Amniocentesis (diagnostic)
  No Code Chorionic villus sampling
ICD-9 Diagnosis 646.30-646.33 Habitual aborter code range
  655.00-655.03 Fetal or suspected fetal central nervous system malformation code range
  655.10-655.13 Chomosomal (suspected) abnormality in fetus code range
  655.20-655.23 Hereditary disease in family, possibly affecting fetus code range 
  655.30-655.33 Suspected damage to fetus from viral or other maternal diseases or fetal exposure to drugs, radiation, etc., code range 
  656.50-656.53  Poor fetal growth code range
  659.50-659.53  Elderly primigravida code range
  659.60-659.63  Other advanced maternal age code range
  V23.8  Pregnancy complicated by previous non-obstetric condition, other high risk pregnancy
  V28.0  Screening for chromosomal anomalies by amniocentesis
  V28.8  Other specified antenatal screening
HCPCS No code  
ICD-10-CM (effective 10/01/15)  O2620  Pregnancy care for patient with recurrent pregnancy loss, unspecified trimester 
  O2621  Pregnancy care for patient with recurrent pregnancy loss, first trimester 
  O2622  Pregnancy care for patient with recurrent pregnancy loss, second trimester 
  O2623  Pregnancy care for patient with recurrent pregnancy loss, third trimester 
  O350XX0  Maternal care for (suspected) central nervous system malformation in fetus, not applicable or unspecified 
  O350XX0  Maternal care for (suspected) central nervous system malformation in fetus, not applicable or unspecified 
  O350XX0  Maternal care for (suspected) central nervous system malformation in fetus, not applicable or unspecified 
  O351XX0  Maternal care for (suspected) chromosomal abnormality in fetus, not applicable or unspecified 
  O352XX0 Maternal care for (suspected) hereditary disease in fetus, not applicable or unspecified 
  O353XX0  Maternal care for (suspected) damage to fetus from viral disease in mother, not applicable or unspecified 
  O355XX0  Maternal care for (suspected) damage to fetus by drugs, not applicable or unspecified 
  O365190  Maternal care for known or suspected placental insufficiency, unspecified trimester, not applicable or unspecified 
  O365990  Maternal care for other known or suspected poor fetal growth, unspecified trimester, not applicable or unspecified 
  O365110 Maternal care for known or suspected placental insufficiency, first trimester, not applicable or unspecified 
  O365120  Maternal care for known or suspected placental insufficiency, second trimester, not applicable or unspecified 
  O365130  Maternal care for known or suspected placental insufficiency, third trimester, not applicable or unspecified 
  O365910  Maternal care for other known or suspected poor fetal growth, first trimester, not applicable or unspecified 
  O365920  Maternal care for other known or suspected poor fetal growth, second trimester, not applicable or unspecified 
  O365930  Maternal care for other known or suspected poor fetal growth, third trimester, not applicable or unspecified 
  O09519  Supervision of elderly primigravida, unspecified trimester 
 
O09511 
Supervision of elderly primigravida, first trimester 
  O09512  Supervision of elderly primigravida, second trimester 
  O09513  Supervision of elderly primigravida, third trimester 
  O09529  Supervision of elderly multigravida, unspecified trimester 
  O09521  Supervision of elderly multigravida, first trimester 
  O09522  Supervision of elderly multigravida, second trimester 
  O09523  Supervision of elderly multigravida, third trimester 
  O09511  Supervision of elderly primigravida, first trimester
  O09521  Supervision of elderly multigravida, first trimester 
  O09819  Supervision of pregnancy resulting from assisted reproductive technology, unspecified trimester 
  O09821  Supervision of pregnancy with history of in utero procedure during previous pregnancy, first trimester 
  O09822  Supervision of pregnancy with history of in utero procedure during previous pregnancy, second trimester 
  O09823  Supervision of pregnancy with history of in utero procedure during previous pregnancy, third trimester 
  O09829  Supervision of pregnancy with history of in utero procedure during previous pregnancy, unspecified trimester 
  O09891  Supervision of other high risk pregnancies, first trimester 
  O09892  Supervision of other high risk pregnancies, second trimester 
  O09893  Supervision of other high risk pregnancies, third trimester 
  O09899  Supervision of other high risk pregnancies, unspecified trimester 
  Z36  Encounter for antenatal screening of mother 
 ICD-10-PCS (effective 10/01/15) 10903ZU  Drainage of Amniotic Fluid, Diagnostic from Products of Conception, Percutaneous Approach 
  10907ZU  Drainage of Amniotic Fluid, Diagnostic from Products of Conception, Via Natural or Artificial Opening 
  10908ZU  Drainage of Amniotic Fluid, Diagnostic from Products of Conception, Via Natural or Artificial Opening Endoscopic 
Type of Service

(Mniocentesis) Inpatient/Outpaient, Physician's Office

(Chorionic Villus Sampling), Outpatient Only, Not physician's Office

 

Procedure and diagnosis codes on Medical Policy documents are included only as a general reference tool for each policy. They may not be all-inclusive.

Policy to remain active, but will not undergo scheduled review after 2015.

Index 
Amniocentesis
Chorionic Villus Sampling
Prenatal Diagnosis, Chorionic Villus Sampling, Amniocenteses
Prenatal Genetic and Chromosomal Metabolic Testing

This medical policy was developed through consideration of peer-reviewed medical literature generally recognized by the relevant medical community, U.S. FDA approval status, nationally accepted standards of medical practice and accepted standards of medical practice in this community, Blue Cross and Blue Shield Association technology assessment program (TEC) and other non-affiliated technology evaluation centers, reference to federal regulations, other plan medical policies and accredited national guidelines. 

"Current Procedural Terminology© American Medical Association.  All Rights Reserved"  

History From 2013 Forward       

12/17/2020 

Annual review, no change to policy intent 

12/12/2019 

Annual review, no change to policy intent.

12/21/2018

Annual review, no change to policy intent.

12/20/2017 

Annual review, no change to policy intent. 

12/28/2016 

Annual review, no change to policy intent. 

11/5/2015 

Annual review, no change to policy intent. 

09/22/2015 

Added ICD-10 coding to policy. 

12/15/2014 

Annual review, added coding, no change to policy intent

12/5/2013

Annual review,added benefit applications.


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