Journal of Genetic Counseling

, Volume 20, Issue 4, pp 396–403

Extreme Values of Maternal Serum Analytes in Second Trimester Screening: Looking Beyond Trisomy and NTD’s

  • Elizabeth McPherson
  • Ginger D. Thomas
  • Christopher Manlick
  • Christina A. Zaleski
  • Kara K. Reynolds
  • Kristen Rasmussen
  • Philip F. Giampietro
  • Carmen Wiley
  • Maria Mascola
Original Research

DOI: 10.1007/s10897-011-9364-y

Cite this article as:
McPherson, E., Thomas, G.D., Manlick, C. et al. J Genet Counsel (2011) 20: 396. doi:10.1007/s10897-011-9364-y

Abstract

Second trimester maternal serum screening can identify high risk pregnancies and fetuses at risk for birth defects (in addition to those in the standard interpretation). The purpose of this study was to quantify such risks to improve counseling. We compared outcomes of 692 pregnancies that had abnormal levels of at least one analyte with a cohort of 713 pregnancies with normal analytes. Increased risks include: demise with high AFP and low uE3; intrauterine growth restriction with high AFP, high and low hCG, and low uE3; placental abnormalities with high AFP; fetal stress with high AFP and high hCG. Birth defects are increased with high AFP, high hCG, and low hCG. When two or more analytes are abnormal, 46% have a poor outcome. Abnormal levels of maternal serum analytes provide information in addition to the risks for neural tube defects, Down syndrome, and trisomy 18. This information is important for counseling and pregnancy management.

Keywords

Second trimester maternal serum markers Pregnancy outcomes Extreme analytes 

Copyright information

© National Society of Genetic Counselors, Inc. 2011

Authors and Affiliations

  • Elizabeth McPherson
    • 1
    • 7
  • Ginger D. Thomas
    • 2
  • Christopher Manlick
    • 3
  • Christina A. Zaleski
    • 1
  • Kara K. Reynolds
    • 1
  • Kristen Rasmussen
    • 1
  • Philip F. Giampietro
    • 4
  • Carmen Wiley
    • 5
  • Maria Mascola
    • 6
  1. 1.Medical Genetics, Marshfield ClinicMarshfieldUSA
  2. 2.Kelley ScientificSt LouisUSA
  3. 3.University of IowaIowa CityUSA
  4. 4.Department of PediatricsUniversity of WisconsinMadisonUSA
  5. 5.Providence Sacred Heart Medical CenterSpokaneUSA
  6. 6.Obstetrics and Gynecology, Marshfield ClinicMarshfieldUSA
  7. 7.Department of Medical Genetics 3C1, Marshfield ClinicMarshfieldUSA

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