Maternal serum α-fetoprotein screening: Low and high values for detection of genetic abnormalities Article

Simpson, JL, Baum, LD, Marder, R et al. (1986). Maternal serum α-fetoprotein screening: Low and high values for detection of genetic abnormalities . 155(3), 593-597. 10.1016/0002-9378(86)90285-1

cited authors

  • Simpson, JL; Baum, LD; Marder, R; Elias, S; Ober, C; Martin, AO

fiu authors

abstract

  • In initiating a maternal serum α-fetoprotein screening program, we pursued not only elevated values for the detection of neural tube defects but also low values to detect trisomic fetuses. We detected neural tube defects (0.2%) as expected but were surprised by the efficacy with which low serum α-fetoprotein values identified aneuploid fetuses. In 1421 pregnant women, 132 (9.3%) showed maternal serum α-fetoprotein values <0.4 multiple of the median. After repeat sampling, 57 women still had low values. These 57 women and six others who were too anxious for repeat sampling underwent level I ultrasound examination with the following results: gestational age overestimated by 2 weeks (n = 8), fetal death (n = 1), and no explanation (n = 54). Of the 54, 49 underwent amniocentesis with detection of three aneuploid fetuses: trisomy 18 (n = 2) and trisomy 21 (n = 1); maternal ages were 27, 29, and 31 years, respectively. Autosomal aneuploidy did not occur in other women screened. We conclude that low maternal serum α-fetoprotein values could efficiently detect aneuploid fetuses, perhaps with greater sensitivity than previously predicted. © 1986.

publication date

  • January 1, 1986

Digital Object Identifier (DOI)

start page

  • 593

end page

  • 597

volume

  • 155

issue

  • 3