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Prenatal Exclusion of Recessively Inherited Disorders: Should Maternal Plasma Analysis Precede Invasive Techniques?

Departments of Pediatrics and Obstetrics and Gynecology, Tufts-New England Medical Center, Boston, MA 02111, E-mail DBianchi@Lifespan.org

Since the presence of large amounts of circulating fetal DNA in maternal plasma and serum samples was first reported by Lo et al. in 1997 (1), a multitude of clinical applications for the noninvasive diagnosis of complications of pregnancy have been reported [reviewed in Ref. (2)]. These applications have largely focused on the quantification of male fetal DNA in maternal plasma/serum samples and its associated increase in conditions such as fetal trisomy 21, maternal hyperemesis gravidarum, preeclampsia, invasive placenta, and preterm labor (3)(4)(5)(6)(7). In addition, qualitative detection of uniquely fetal DNA sequences in maternal plasma/serum has facilitated the noninvasive prenatal diagnosis of Rhesus D genotype, myotonic dystrophy, and achondroplasia (8)(9)(10). Both of these approaches are feasible because fetal and maternal DNA can be distinguished from each other. This same approach, however, will not work in the noninvasive prenatal diagnosis of autosomal recessive disorders, in which a fetus shares a mutant allele with its mother.

In this issue of Clinical Chemistry, Chiu et al. (11) describe a novel strategy to exclude the diagnosis of a recessive condition by identifying polymorphic markers that distinguish the uniquely paternal mutant and wild-type alleles. They amplified cell-free fetal DNA in maternal plasma at 11 and 17 weeks of gestation, and by comparison with DNA from the couple’s first affected child, were able to determine that the current pregnancy was unaffected.

As a model system, these investigators chose the disease congenital . . . [Full Text of this Article]

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The following articles in journals at HighWire Press have cited this article:

				C. Ding, R. W. K. Chiu, T. K. Lau, T. N. Leung, L. C. Chan, A. Y. Y. Chan, P. Charoenkwan, I. S. L. Ng, H.-y. Law, E. S. K. Ma, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis PNAS, July 20, 2004; 101(29): 10762 - 10767. [Abstract] [Full Text] [PDF]