EVALUATION STUDIES
JOURNAL ARTICLE
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Stepwise sequential aneuploidy screening in clinical practice.

PURPOSE: To evaluate stepwise sequential screening (SSS) efficiency in clinical practice.

METHODS: All singletons undergoing SSS in a single practice by NTQR (Nuchal Translucency Quality Review Program)-credentialed providers in a 2-year period were included. Prenatal diagnosis was offered to all screen-positive women and those with a nuchal translucency ≥3.5 mm or cystic hygroma at the 11- to 14-week scan. Data were extracted from prospectively ascertained serum screening and genetics databases.

RESULTS: A total of 2,726 patients were screened, with SSS detecting all eight cases of trisomy 21 and all seven cases of other aneuploidies at a 4.3% screen-positive rate.

CONCLUSIONS: Stepwise sequential screening offers excellent aneuploidy screening efficiency when introduced into clinical practice.

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