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Open full size image Key Abbreviations Acetylcholinesterase AchE α-fetoprotein AFP American College of Medical Genetics and Genomics ACMG American College of Obstetricians and Gynecologists ACOG Assisted reproductive technology ART Cell-free DNA cfDNA Chorionic villus sampling CVS Chromosomal microarray CMA Comparative…
Key Points About 3% of liveborn infants have a major congenital anomaly due to a chromosome abnormality, single-gene mutation or multifactorial/polygenic inheritance, or exogenous factors (i.e., teratogens). Noninvasive screening tests for the common autosomal trisomies should be offered at any…