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Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18.
Author(s) -
DeVore G R
Publication year - 2000
Publication title -
journal of ultrasound in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 91
eISSN - 1550-9613
pISSN - 0278-4297
DOI - 10.7863/jum.2000.19.8.565
Subject(s) - medicine , trisomy , choroid plexus , fetus , amniocentesis , anatomy , aneuploidy , down syndrome , prenatal diagnosis , pathology , central nervous system , pregnancy , biology , biochemistry , genetics , psychiatry , gene , chromosome
Between 1990 and 1999, 30 second trimester fetuses with trisomy 18 and 2000 control fetuses underwent real‐time and color Doppler ultrasonographic examination followed by genetic amniocentesis. Abnormal fetal anatomy was present in 97% of fetuses with trisomy 18, with a false‐positive rate of 15.7%. Logistic regression identified six markers (choroid plexus cysts, central nervous system malformations, an abnormal nuchal skin fold, ventricular septal defect, outflow tract abnormalities of the heart, and right‐to‐left chamber disproportion of the heart) and one interaction between markers (right‐to‐left chamber disproportion and outflow tract abnormalities) to significantly contribute to the identification of 93% of fetuses with trisomy 18, with a false‐positive rate of 8.9%. Noncardiovascular markers (choroid plexus cysts, central nervous system malformations, and abnormal nuchal skin fold) identified 77% of fetuses with trisomy 18, with a false‐positive rate of 3.9%. Combining right‐to‐left chamber disproportion of the heart with choroid plexus cysts, central nervous system malformations, and nuchal skin folds identified 83% of fetuses with trisomy 18, with a false‐positive rate of 4.4%.