We report a case of a 23-year-old pregnant woman, who underwent amniocentesis after ultrasound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US evaluation in the second trimester revealed Dandy-Walker malformation, ventriculomegaly, bilateral clubfoot, l...

Increased Nuchal Translucency is an indicator of increased risk for Down syndrome, which is identified by measuring Nuchal Translucency from ultrasound fetal images during 11 to 13 weeks of gestation. Increased NT is associated with chromosomal abnormalities. In this study an efficient classification system based on Discrete Wavelet Transform (DWT) is proposed to detect the normal and abnormal ...

OBJECTIVE Measurement of intracranial translucency (IT), which is a recent earlier recognizable sonographic marker, has been suggested for detection of spina bifida. In this prospective study we aimed to determine normative values of IT in the population of Turkish singleton pregnant women during the first trimester of pregnancy. MATERIAL AND METHODS Between January 2011 and July 2011, all co...

OBJECTIVE Assess the accuracy of the nuchal translucency (NT) measurement between 11 and 13 weeks and 6 days of gestation as a sonographic marker to screen for congenital heart defects (CHD). METHODS This is a multi-center retrospective study in which singleton gestations of euploid fetuses were analyzed. NT measurement was performed in the first trimester examination when the fetal crown-rum...

Objective We sought to assess blood fl ow in relation to jugular lymphatic distension in fetuses with increased and normal nuchal translucency (NT). Study design In all, 72 fetuses with normal NT and 71 fetuses with NT > 95th percentile were evaluated. NTsize, jugular lymphatic sacs (JLS), jugular vein and ductus venosus pulsatility index for veins (PIV), and intracardiac velocities were measur...

We describe the histological examination of 18 aborted fetuses that had increased nuchal translucency (NT) between 11(+0) and 13(+6) weeks' gestation. The aim of this study was to assess the corresponding NT anatomic features by immunohistochemical (IHC) investigation. A morphological study was performed using lymphatic and blood endothelial specific markers, as well as smooth muscle actin (SMA...

Background: To present bilateral lower extremity agenesis which is a rare anomaly and to point out importance of transvaginal sonography (TVS) for the antenatal diagnosis of such anomalies during early in pregnancy. Case: A 25 year-old pregnant woman admitted to our department for first trimester nuchal translucency screening sonography. TVS revealed a 12 weeks and 2 days fetus with positive ca...

OBJECTIVES Document patient choices and screening performance (false positive and detection rates) when three improved Down syndrome screening protocols were introduced coincidentally. METHOD Second-trimester 'triple marker' screening was expanded by adding second-trimester dimeric inhibin-A (four-marker), with or without first-trimester pregnancy-associated plasma protein-A (five-marker). Nu...