![]() ![]() Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Grande M, Jansen FAR, Blumenfeld YJ, et al. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Current methods of prenatal screening for Down syndrome and other fetal abnormalities. Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD’s. McPherson E, Thomas GD, Manlick C, et al. First- and second-trimester maternal serum markers for aneuploidy and adverse obstetric outcomes. First-trimester or second-trimester screening, or both, for Down’s syndrome. An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. Advanced maternal age and prenatal diagnosis: it’s time for individual assessment of genetic risks. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. Wilson KL, Czerwinski JL, Hoskovec JM, et al. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. 162: Prenatal diagnostic testing for genetic disorders. 2016 128(1):181–94.ĪCOG Practice Bulletin: Clinical management guidelines for obstetrician-gynecologists screening for fetal chromosomal abnormalities 2020. The use of chromosomal microarray for prenatal diagnosis. Society for Maternal-Fetal Medicine (SMFM), Dugoff L, Norton ME, Kuller JA. Seattle, WA: University of Washington 1993–2021. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. McDonald-McGinn DM, Hain HS, Emanuel BS, et al. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis. Srebniak MI, Joosten M, Knapen MFCM, et al. Gardner and Sutherland’s chromosome abnormalities and genetic counseling. Principles of clinical cytogenetics and genome analysis. However, it is appreciated that an increased nuchal translucency measurement can be associated with atypical chromosome abnormalities and single gene disorders that are not included in cell free DNA screening, thus may be useful in identifying women who would benefit from diagnostic prenatal genetic testing. Nuchal translucency ultrasound at 11–13 weeks gestation has less utility as a screen for aneuploidy in the era of cell free DNA screening. Cell free DNA screening has a high detection rate with lower false-positive rates and has largely replaced other forms of aneuploidy screening. Recent advances in aneuploidy screening have led to the development of cell free DNA screening, a blood test available in the first trimester. Aneuploidy screening has evolved over the years from a second trimester blood draw to a first trimester nuchal translucency ultrasound and blood draw as well as various methods of combining the first and second trimester screens. The purpose of aneuploidy screening is to provide a pregnant patient an individualized risk to have a fetus with a common chromosome aneuploidy (trisomies 21, 18, and 13). Aneuploidy screening has been a routine part of prenatal care since the 1980s.
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