PMID: 7540276Apr 1, 1995Paper

Advent of maternal serum markers for Down syndrome screening

Obstetrical & Gynecological Survey
J LoncarJ W Larsen

Abstract

Trisomy 21, or Down syndrome, is the most common serious autosomal chromosome aberration in which affected individuals survive beyond infancy. The association between advancing maternal age and increased risk of trisomy 21 is well known, and pregnant women older than 35 years at delivery are routinely offered invasive prenatal diagnostic testing. More recently, the use of maternal serum markers in the second trimester of pregnancy to predict the risk of trisomy 21 for women under the age of 35 has received intensive analysis. Maternal serum alpha-fetoprotein (MSAFP) was the first of these markers to be identified, and an inverse correlation between MSAFP level and risk of trisomy 21 was noted. A second marker, unconjugated estriol (uE3), has also been studied, and a correlation between low uE3 and trisomy 21 has been demonstrated, with a high level of correlation between AFP and uE3. The addition of uE3 to the screening protocol has not consistently improved detection rates, possibly because of its high correlation with AFP. A strong association of human chorionic gonadotropin (hCG) and Down syndrome was reported. This analyte is the most sensitive one in use today, although controversy exists regarding the best form of the ana...Continue Reading

References

Jan 1, 1990·Clinical Genetics·B Nørgaard-PedersenA Tabor
Oct 11, 1990·American Journal of Obstetrics and Gynecology·J N MacriJ W Larsen
Mar 1, 1990·American Journal of Obstetrics and Gynecology·J N MacriJ W Larsen
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Citations

Jan 17, 2014·Journal of Obstetrics and Gynaecology of India·Bandeppa H Narayani, Prathima Radhakrishnan
Jun 28, 2011·Genetic Testing and Molecular Biomarkers·Osman DemirhanNihal İnandiklioğlu
Jun 10, 1998·Obstetrical & Gynecological Survey·A Conde-Agudelo, A C Kafury-Goeta
May 2, 2006·Journal of Medical Ethics·H-H ChiangY-S Yuh
Mar 20, 2015·Metabolites·Tania M Puvirajesinghe, Jean-Paul Borg
Jan 13, 1999·Prenatal Diagnosis·T BeazoglouP Benn
Apr 12, 2002·Endocrine Reviews·Fernando M ReisFelice Petraglia
Dec 25, 2008·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Suchin SutthibenjakulAlan Geater

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