Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia.

We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2, and not present in variation databases. In the second pregnancy, lens hyperechogenicity was detected by ultrasound at week 13 and 4 days. The identical duplication at 22q11.23 was found in the fetus and considered as possibly pathogenic. At weeks 22 and 30, smaller orbit measurements were elucidated on ultrasound, raising concerns as to the underlying molecular genetic cause, necessitating further investigation. Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). Neither mutation has been previously reported to be disease-causing; however, evaluation in the context of previously published literature indicated their deleterious nature, implying a clinical diagnosis of Warburg micro syndrome or Martsolf syndrome. Sanger sequencing confirmed segregation of the two mutations within the family, consistent with autosomal recessive inheritance. The child born from the second pregnancy showed features typical of Warburg micro syndrome, with the exception of microcephaly, at age 31 months. © 2016 Wiley Periodicals, Inc.

Poster abstracts different occasions (intraobserver variability) or between different examiners (interobserver variability) was calculated by using intraclass correlation coefficient (ICC) and Bland-Altman graphs. Results: It was observed high intra-and interobserver agreement with ICC > 0.90 for all 3D power Doppler indices in the ACA territory. Intraobserver reliability: VI [ICC = 0.984 (CI 95% 0.959-0.994)], FI [ICC = 0.985 (CI 95% 0.962-0.994)], VFI [ICC = 0.986 (CI 95% 0.964-0.994)]. Interobserver reliability: VI [ICC = 0.960 (CI 95% 0.899-0.984)], FI [ICC = 0.983 (CI 95% 0.958-0.993)], VFI [ICC = 0.916 (CI 95% 0.910-0.926)]. Conclusions: This method to study ACA territory proved to be practical, easy and with high intra-and interobserver reproducibility. P25.10 Use of three-dimensional (3D) sonography to assess the true midsagittal plane of fetal spine

Objectives: To evaluate and compare the performance of various quality control methods for nuchal translucency (NT) measurements. Methods: Fetal NT measurements performed over a oneyear period in a single center were used for the study. The retrospective quality review methods proposed by the Fetal Medicine Foundation (FMF) and the Woman & Infants Hospital of Rhode Island (WIHRI) were assessed in the whole dataset and in sonographer-specific distributions. Further prospective statistic process control (SPC) methods were applied (Shewhart x and s charts, exponentially weighted moving average (EWMA) and cumulative sum (CUSUM) charts). Results: Three thousand five hundred and seventy eight NT measurements obtained by seven sonographers were eligible for designed analysis. In the assessment of the sonographer-specific NT distributions three of them did not meet due to the underestimation the FMF and one the WIHRI criteria. Using SPC methods, three sonographers presented unsatisfactory performance with underestimation, three sonographers overall satisfactory performance with transient periods of over-and underestimation and one sonographer showed perfect performance. MUDr. Martin HynekConclusions: Assessed SPC methods showed close agreement with the retrospective ones, but with the advantage that they can be applied prospectively allowing the prompt action in case of malperformace. The EWMA and CUSUM methods were regarded as the most suitable.

The EWMA provides a universal, easy and efficient tool for NT quality review when the prompt and effective detection of suboptimal performance is desired.

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