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Copyright of Cukurova Medical Journal / Çukurova Üniversitesi Tip Fakültesi Dergisi is the property of Cukurova University, Faculty of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: The aim of this study is to evaluate the role of "soft markers" in the prediction of Down syndrome (DS). Methods: This study includes an unselected population of 1999 pregnant women who requested a fetal karyotype test using amniocentesis at gestational ages ranging from 15 to 20 weeks. Before performing the amniocentesis, an ultrasound examination was conducted to detect the presence of a series of fetal "soft markers". Results: We identified 148 fetuses affected by DS and 1795 euploid fetuses (control group). The marker found to have the most significant likelihoodratio (LR) was increased nuchal fold. The marker found to have the greatest sensitivity was echogenic intracardiac focus. The other soft markers (as single markers) were not significant. Conclusions: An ultrasound scan cannot diagnose or rule out DS. However, it can be a useful method for modifying the baseline "a priori" probability of DS in any particular patient. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to compare the efficiency of second-trimester nasal bone hypoplasia (NB) and increased nuchal fold (NF) in Down syndrome screening. Study Design: This was a prospective multicenter cohort study of women who underwent an anatomic survey between 16 and 22 weeks of gestation. The fetal NB and other markers of fetal aneuploidy that included NF were evaluated. NB was defined either as an absent NB or length of <0.75 multiples of the median for the gestational age. Two definitions of increased NF (>5 mm and >6 mm) were evaluated. Fetuses or infants with Down syndrome were compared with those fetuses without for the presence of NB and increased NF. Results: Among 4373 pregnancies that were evaluated over a 5-year period, there were 50 pregnancies with Down syndrome. NB evaluation was obtained in 3936 of 4373 pregnancies (90%); NF was evaluated in all of the fetuses. Absent NB was seen in 14/49 cases (29%), and NF of >6 mm was seen in 6 of 50 cases (12%) with Down syndrome. Conclusion: Nasal bone and nuchal fold are efficient markers for Down syndrome. Absent nasal bone was a better predictor of Down syndrome, compared with nuchal fold, and should be a standard marker when a second-trimester genetic sonogram is performed. [Copyright &y& Elsevier]