Commentary: The federal ‘Prenatally and Postnatally Diagnosed Conditions Awareness Act’

The recently enacted federal law, the ‘Prenatally and Postnatally Diagnosed Conditions Awareness Act’ (United States Public Law 110–374) seeks to improve opportunities for parents and pregnant women to anticipate and understand the likely life course of children born with Down syndrome and other (unspecified) conditions. The law is in part a response to the continued growth of prenatal screening and testing. For example, the American College of Obstetricians and Gynecologists' Practice Bulletin 77 recommends that ‘Screening and invasive diagnostic testing for aneuploidies be available to all women who present for prenatal care before 20 weeks of gestation regardless of maternal age.’ Emerging technologies anticipate an era in which the scope of prenatal screening and testing will be much larger than it is today. Inevitably, more women will find themselves facing the hard question of whether to continue or end a pregnancy in which a fetus has been found to have a significant abnormality. While the new federal law is not likely to have a major impact on obstetric practice, it may be a harbinger of renewed wide-scale public debate concerning the ethics of prenatal screening. Copyright © 2009 John Wiley & Sons, Ltd.     

First-trimester maternal serum alpha-fetoprotein as a marker for fetal chromosomal disorders

We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal pregnancies. The median multiple of the normal median (MOM) in 32 Down's syndrome pregnancies was 0·83 with a 95 per cent confidence interval ranging from 0·60 to 1·04. The difference between the distributions of first-trimester MS-AFP in normal and Down's syndrome pregnancies was statistically significant (t-test: t = 2·34, P<0·05). Thirty-one per cent of the Down's syndrome pregnancies were found below the tenth percentile. We found no difference between normal pregnancies and pregnancies with other chromosomal disorders (eight cases with trisomy 18, MOM = 1·26; seven cases with sex chromosome abnormalities, MOM = 1·07; 22 cases with a chromosomal mosaic pattern in chorionic villi, MOM = 1·08). We conclude that first-trimester MS-AFP can discriminate between normal and Down's syndrome pregnancies, but is not an effective marker. First-trimester MS-AFP has no value as a marker for other fetal chromosomal disorders.