Fine particulate matter and risk for preterm birth in Connecticut in 2000-2006: A longitudinal study

摘要

Prenatal screening for fetal aneuploidies has focused on trisomies 21, 18, and 13. The sex chromosome aneuploidies, monosomy X (45,X), Klinefelter syndrome (47,XXY or 48,XXYY), triple X syndrome (47,XXX), and 47,XYY, with a combined prevalence of 1:500, are more common than the major trisomies. Use of cell-free DNA (cfDNA) analysis in maternal blood allows screening for trisomies 21,18, and 13 and sex chromosome aneuploidies. Chromosome-selective sequencing of cfDNA, that is, digital analysis of selected regions (DANSR), combined with a fetal-fraction optimized risk of trisomy evaluation (FORTE) algorithm, allows evaluation of chromosomes X and Y. This case-control study was undertaken to determine the clinical performance of chromosome-selective sequencing of cfDNA in maternal blood and the FORTE algorithm for the assessment of fetal sex chromosome aneuploidies.