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Test Code LAB000 MISC TEST (FD SHODAIR) Fetal Demise Genetics Study

Useful For

Determining any abnormalities that may explain the cause for fetal demise

Methodology

Pathology gross examination/Chromosome analysis

Profile Information

Testing Options
Limited Fetal Pathology An external exam of the body and placenta to identify any physical abormalities or birth defects that might expain the cause for the demise.
Cytogenetics  A sample of tissue is taken to culture cells for study.  This looks at the structure of the fetal chromosomes to identify any obvious structural defects or missing or extra chromosomes as you would see, for example, in Down syndrome.

Limited Fetal Pathology

and Cytogenetics

 After the external exam, a geneticist confers with the ordering physician to discuss whether to continue with chromosome studies. *If the family is unsure which options they want, this is the best one to choose as chromosome studies can always be cancelled.  There is a setup fee of $150 that is charged if the studies are started and cancelled.

 Note: A genetic counselor is available to speak with the patient about this loss.  A Shodair counselor on call can be reached at 1-800-447-6614 during normal business hours.

Performing Laboratory

Department of Medical Genetics-Shodair Children's Hospital

Specimen Requirements

Specimen Type: Products of conception <20 weeks gestation

Specimen Container: Sterile urine container

Specimen Volume: Entire specimen

Collection Instructions:

  1. Discuss appropriateness of genetic referral with the parents.  
  2. Decide if fetal pathology, chromosome studies or both are indicated.
  3. Label specimen containers with the patient name, date of birth, and tissue type.
  4. Enclose entire specimen in a leak-proof, sterile urine container.
  5. Add sterile saline if necessary to retain moisture. Viral transport media or tissue culture media is also acceptable. Do not put specimen in formalin or any other preservative.
  6. Enclose specimen container in a biohazard bag.
  7. Enclose paperwork in a protective covering and include with the specimen.
  8. Send specimen with the required documents listed below:
  9. Deliver to laboratory ASAP.  Do not use the pneumatic tube system.

 

Specimen Type: Fetal material ≥20 weeks gestation

Specimen Container: Sterile sealable container/lid

Specimen Volume: Entire specimen (fetus and placenta)

Collection Instructions:

  1. Discuss appropriateness of genetic referral with the parents.  
  2. Decide if fetal pathology, chromosome studies or both are indicated.
  3. Label specimen containers with the patient name, date of birth, and tissue type.
  4. Enclose entire specimen (fetus and placenta) in a leak-proof, sterile biohazard container.
  5. If the specimen is large, place placenta in a sterile sealable plactic conainer and tape to seal.  Double bag the fetus and place in styrofoam or plastic container laying flat. Seal the specimen.
  6. Enclose paperwork in protective covering and include with the specimen.
  7. Send the entire specimen including fetus and placenta with the required documents listed below:
  8. Deliver to laboratory ASAP.  Do not use the pneumatic tube system.

 

Specimen Rejection:

1.  Specimens received in formalin

2.  Frozen specimens

3.  Specimens improperly labeled

4.  Specimens without required documents

Specimen Transport Temperature

Ambient

Specimen Stability

 

Specimen Type Temperature Time
Fetal material Ambient 72 hours

Note: Testing can be performed regardless of specimen age.  it is optimal to perform testing as soon as possible.

Day(s) Test Set Up

Monday through Friday

Test Classification and CPT Coding

88300-Level I Surgical pathology, gross examination only

88233-Cytogenetics solid tissue biopsy

88262-Count 15-20 cells, 2 karyotypes, with banding

88291-Cytogenetics and molecular cytogenetics, interpretation and report

Forms