PMID: 2456565May 1, 1988

Amniotic fluid-AFP in Down syndrome and other chromosome abnormalities

Prenatal Diagnosis
B F CrandallS Perdue


80.2 Per cent of 111 Down syndrome pregnancies had anmiotic fluid (AF) alpha fetoprotein (AFP) levels on or below the median and 10.8 per cent at or below 0.5 MoM compared with 41.9 and 1.4 per cent of controls. These differences were even more striking when the gestational age was less than 18 weeks compared with greater than or equal to 18 weeks. No such association was seen for other chromosome abnormalities including trisomy 18,45,X and mosaics, 47,XXY,47,XXX, and other structural abnormalities and triploidy, even when high levels due to defects such as omphalocele and cystic hygroma were excluded. All cases of trisomy 13 and 80 per cent with 47,XYY had AF-AFP levels above the median. Selection of cases for karyotyping by a low level of AF-AFP would clearly fail to detect aneuploidies other than Down syndrome and is not recommended. A possible weak association between low maternal serum (MS) and AF-AFPs in Down syndrome was most evident at less than 18 weeks, suggesting that MS screening between 16 and 18 weeks may be the most informative time.


Nov 1, 1985·American Journal of Obstetrics and Gynecology·R O DavisA Milunsky
Feb 1, 1986·American Journal of Obstetrics and Gynecology·T A DoranT Capello
Feb 2, 1985·Lancet·H S CuckleJ Jonasson
Apr 1, 1986·British Journal of Obstetrics and Gynaecology·D D JonesG F Williams
Apr 1, 1984·American Journal of Obstetrics and Gynecology·I R MerkatzW E Johnson


Nov 1, 1990·Prenatal Diagnosis·K E KronquistB F Crandall
Nov 1, 1989·Prenatal Diagnosis·M J GiddyI Horacek
Aug 1, 1989·Prenatal Diagnosis·M ZeituneM A Ferguson-Smith
Apr 10, 1995·American Journal of Medical Genetics·J P RossiterR I Kelley
Jan 5, 2002·BJOG : an International Journal of Obstetrics and Gynaecology·R YamamotoS Fujimoto

Related Concepts

Amniotic Fluid Index
Autosome Abnormalities
Trisomy 21, Mitotic Nondisjunction
Antenatal Screening Procedures
Sex Chromosome Aberrations
Autosomal Chromosome Disorders

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