Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies

• DOI: 10.1002/uog.17228
• Publication Date: 2016-08-12T09:42:58Z
• Authors: L. Beulen; B. H. W. Faas; I. Feenstra; J. M. G. van Vugt; M. N. Bekker
• Keywords: Trisomy; Cell-free fetal DNA; Abnormality

To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic in pregnancies with abnormal ultrasound findings.This was a retrospective analysis 251 singleton and multiple at high risk for fetal chromosomal abnormality based on findings sonographic examination, which NIPT performed first-tier genetic test. by massively parallel sequencing cell-free DNA maternal plasma, allowing genome-wide detection whole-chromosome, well partial, autosomal aneuploidy. Sex chromosomes were not analyzed, according current protocol Dutch laboratories.NIPT median gestational age 20 weeks, indicated presence congenital anomalies (n = 13), isolated structural 57), increased nuchal translucency ≥ 3.5 mm 58), soft markers 73), growth restriction 40) other 10). results normal 224 (89.2%) pregnancies, inconclusive one (0.4%) 26 (10.4%). Most aberrations detected common whole-chromosome aneuploidies: trisomy 21 18 6) 13 3). Four further abnormal; suspected being confined placental mosaicism origin. In those results, follow-up or examination newborn need 33/224 (14.7%) pregnancies. Clinically relevant revealed 7/224 (3.1%) cases, two monosomy X. As sex are included analysis, latter cannot be considered false-negative result. Other discordant subchromosomal (< megabases, n 2) monogenic 3).NIPT should recommended evaluation etiology anomalies, both resolution sensitivity, negative predictive value, inferior conventional karyotyping microarray analysis. Nonetheless, some pregnant women consider acceptable testing. © 2016 The Authors. Ultrasound Obstetrics & Gynecology published John Wiley Sons Ltd behalf International Society Gynecology.