Amniotic fluid‐AFP in Down syndrome and other chromosome abnormalities

Barbara F. Crandall, Myles Matsumoto, Sondra Perdue

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


80·2 Per cent of 111 Down syndrome pregnancies had amniotic 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 < 18 weeks compared with ⩾ 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 < 18 weeks, suggesting that MS screening between 16 and 18 weeks may be the most informative time.

Original languageEnglish (US)
Pages (from-to)255-262
Number of pages8
JournalPrenatal Diagnosis
Issue number4
StatePublished - May 1988
Externally publishedYes


  • Alpha fetoprotein
  • Amniotic fluid
  • Chromosome abnormalities
  • Down syndrome
  • Maternal serum

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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