Maternal Serum Screening Program

The Maternal Serum Screening Program of Wake Forest School of Medicine is one of the nation's largest and most well respected programs. Begun in 1977, the program currently uses a combination of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and Inhibin A (DIA) to identify pregnant women who may be at risk for having a child with a neural tube defect, Down syndrome, or other chromosome abnormality such as Trisomy 18 and Turner syndrome. Between 15-18,000 women are screened annually. The program's detection rate for neural tube defects is 85% and 60% for Down syndrome.

All abnormal results are phoned and then followed with a written report. Our program is unique in that it offers complete follow-up services for women with abnormal results including genetic counseling. A board certified/board eligible genetic counselor is available for patient consultation or for reinterpretation of results. Through a generous contract with the State of North Carolina, some patients in North Carolina can be screened at no charge. This contract also provides free diagnostic laboratory testing for amniotic fluid AFP/AChE and cytogenetic analysis of amniotic fluid in the case of abnormal screening results for these patients. The program meets all the guidelines published by the American College of Obstetrics/Gynecology, the Centers for Disease Control, the American Association of Pediatrics and the American Society of Human Genetics.

  • The American College of Obstetrics and Gynecology recommends maternal serum screening as standard of care for all pregnant women.
  • N.C. has one of the highest incidences of neural tube defects and other birth defects in the nation (March of Dimes, 2002).
  • Our program provides maternal serum screens for approximately 13,000 pregnant women per year.
  • Early diagnosis during pregnancy allows for a planned delivery with proper medical care. Thus our program contributes to:
    • Standard of prenatal care for women and unborn children without other healthcare options in Central and Western North Carolina
    • Decreased infant mortality
    • Decreased infant morbidity
    • Enhanced infant survivability/care
    • Decreased Neonatal Intensive Care Unit stays
    • Overall cost savings to the State of North Carolina

Our laboratory also offers determination of AFP in serum from cancer patients.

Current Maternal Serum Screening Protocol

Neural Tube Information Pamphlet - [Spanish Version]

Click here to download a PDF reader, if needed.

Test: Prenatal Screening on Peripheral Blood  
          Maternal Serum Alpha-fetoprotein Analysis (MSAFP)

Purpose of Test: Indicate the presence of a neural tube defect (anencephaly or spina bifida).  Quantitative measurements of MSAFP in conjunction with Human Chorionic Gonadotropin (hCG), Unconjugated Estriol (uE3), and Inhibin A (DIA) can calculate a woman’s risk for Down Syndrome and Trisomy 18. Low levels of uE3 can be associated with Steroid Sulfatase Deficiency (Ichthyosis) and Smith Maginnes Syndrome.

Specimen Required:  Please provide all information on our MSAFP lab slips.   All samples must be accompanied by a completed laboratory slip; the two copies must remain attached.  Each question is designed to give us the required information to provide accurate interpretation for your patient.  We cannot provide a result if the laboratory slip is incomplete.

Peripheral Blood

  • Swab area with alcohol. Do not swab with BetadineDraw.
  • 8-10 mls whole blood in a red-top (no additive) or serum separator tube(s).
  • If you prefer to spin the sample before shipping, we must have a full 3.5 ml tube of serum.
  • Optimum time for screening is 16-18 weeks of gestation. We strongly recommend that the sample be drawn in this time. However, interpretation of samples is possible between 15 and 20.9 weeks of gestation. 
  • For patients presenting before 15 weeks or after 20.9 weeks, the MSAFP/hCG/uE3 will be quantified, but no interpretation is possible. 
  • We recommend that the samples drawn before 15 weeks gestation be re-drawn at 16-18 weeks.

Average Turn Around Time: 6-10 days (avg 8 days)

CPT Code Information:
82677  UE3
82105  MSAFP
84702  hCG
86336  DIA

[Lab Referral Form][Lab Referral Form (Spanish)][Back to Top]

Test: Prenatal Screening on Amniotic Fluid
          AF Alpha-fetoprotein Analysis (AFAFP)

Purpose of Test: To detect elevated alpha fetoprotein levels in the amniotic fluid that may suggest an open neural tube defect and open ventral wall defect.

Specimen Required: Please provide indications for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised. This test is done in conjunction with a prenatal amniotic fluid chromosome analysis.

Amniotic Fluid

  • Optimum timing for specimen collection is during 16th-18th weeks of gestation.
  • Specimens collected at 13 weeks of gestation and beyond are also accepted.
  • Draw 20-25 mL of amniotic fluid in a sterile syringe.
  • We strongly recommend Pharmaseal amniocentesis tray distributed by Cardinal Health Company [Supply T030]).
  • Discard the first 2 mL of amniotic fluid and send the remainder to the laboratory.
  • When using a Pharmaseal amniocentesis kit, transfer the amniotic fluid into the provided transport containers. to 2 screw-capped, sterile 15-mL centrifuge tubes.  Bloody specimens are undesirable.
  • SPECIMEN CANNOT BE FROZEN.

Reflex Test: Chromosome analysis

  • AChE analysis if AFP is elevated
  • Fetal Hemoglobin if the sample is bloody

Average Turn Around Time: AFP reports are generally sent out within a day of final report. If the AFP is elevated, an AChE analysis is performed and the referring physician is notified.

CPT Code Information:
82106 AF-AFP
82013 Amniotic Fluid Acetylcholinesterase
83020 Fetal Hemoglobin (if sample is bloody)

[Lab Referral Form][Back to Top]

Test: Prenatal Screening on Amniotic Fluid  
          Acetylcholinesterase (AChE)

Purpose of Test: To identify acetylcholinesterase in the amniotic fluid that may help confirm a suspected neural tube defect or ventral wall defect.

Specimen Required: Please provide indications for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised. This test is done in conjunction with a prenatal amniotic fluid chromosome analysis.

Amniotic Fluid

  • Optimum timing for specimen collection is during 16th-18th weeks of gestation.
  • Specimens collected at 13 weeks of gestation and beyond are also accepted.
  • Draw 20-25 mL of amniotic fluid in a sterile syringe.
  • We strongly recommend Pharmaseal amniocentesis tray distributed by Cardinal Health Company [Supply T030]).
  • Discard the first 2 mL of amniotic fluid and send the remainder to the laboratory. When using a Pharmaseal amniocentesis kit, transfer the amniotic fluid into the provided transport containers. to 2 screw-capped, sterile 15-mL centrifuge tubes. Bloody specimens are undesirable.
  • SPECIMEN CANNOT BE FROZEN.

Reflex Test: Chromosome analysis

  • Amniotic Fluid Alpha Feto-Protein Analysis (AFAFP)

Average Turn Around Time:

CPT Code Information:
82013 Amniotic Fluid Acetylcholinesterase

[Lab Referral Form][Back to Top]

Test: Cancer Screening on Serum from Peripheral Blood  
          Cancer Alpha-Fetoprotein Analysis

Purpose of Test: Alpha-fetoprotein can serve as a marker of severity for hepatic related conditions such as hepatitis, cirrhosis, and hepatic carcinomas. It can measure treatment success of germ cell tumors: gonadal or extragonadal.

Specimen Required:  Please provide indications for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Peripheral Blood

  • Swab area with alcohol. Do not swab with Betadine.
  • Draw 8-10 mls whole blood in a red-top (no additive) or serum separator tube(s). 
  • If you prefer to spin the sample before shipping, we must have a full 3.5 ml tube of serum.

Average Turn Around Time: 6-10 days (avg 8 days)

CPT Code Information:
82106 AFP

[Back to Top]

 

Quick Reference

Medical Genetics Contact Information
Clinical Genetics Services

Phone 336-713-7573
Fax 336-713-7577

Genetic Laboratory Services

Phone 336-716-4321
Fax 336-716-2554

Maternal Serum Screening

Phone 336-713-7530
Fax 336-713-7577

Hours
8am - 5pm
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Last Updated: 01-13-2014
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Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician or other qualified health care provider.