OBJECTIVE Fetal nuchal translucency (NT) thickness is an important marker for prenatal screening; however, studies focusing on the correlation between maternal trace element levels and NT thickness are limited. The aim of this study was to evaluate maternal trace element levels during the first trimester and to investigate the association between maternal trace element levels and fetal NT thick...

OBJECTIVE To evaluate the possible association between progesterone use in the first trimester of pregnancy and fetal nuchal translucency (NT). MATERIAL AND METHODS This is an observational case-control study, which was conducted with patients who underwent nuchal scans between March 2015 and February 2016 and consequently delivered live and healthy babies. The study group was composed of ass...

This review of literature describes the first-trimester nuchal translucency (NT) which forms the basis of new form of screening which can lead to a significant improvement in detection of congenital anomalies as compared to second trimester screening programs, the so called genetic-sonogram. A growing body of evidence-based studies has demonstrated that fetal NT can be a powerful prenatal scree...

OBJECTIVE To investigate whether maternal serum pregnancy associated plasma protein-A (PAPP-A), total β human chorionic gonadotropin (hCG) levels and nuchal translucency (NT) measurements differ in women with pre-gestational diabetes mellitus (PGDM) compared to non-diabetic controls and to assess whether correction factors are needed for diabetic women in calculation of aneuploidy risks. STUD...

Objective The introduction of first trimester nuchal translucency measurement has resulted in earlier identification of foetuses with exencephaly. Exencephaly is an uncommon congenital malformation in which the flat bones of calvaria are absent leaving the brain completely exposed or protrudes through the defect in the cranial vault. Anencephaly may ensue as a result of prolonged exposure of th...

Isolated fetal lateral neck cysts can represent a cystic hygroma or a developmental remnant cyst. In the absence of an increased nuchal translucency or associated malformations the risk of aneuploidy has been considered negligible. Still, dysmorphology in aneuploid fetuses might not be evident except at a later stage. We report on a case of isolated fetal bilateral neck cysts where aneuploidy w...

Blackfan-Diamond anemia is a congenital hypoplastic anemia with a birth prevalence of about 1 in 200,000, usually presenting in the first few months of life and commonly associated with cardiac, urogenital and digital anomalies. Congenital dyserythropoietic anemias are a group of rare congenital anemias characterized by ineffective erythropoiesis. We report on two cases of congenital fetal anem...

Increasingly, women are choosing first-trimester risk assessment for Down syndrome and other aneuploid conditions. Recent studies have suggested that adding ultrasound assessment of the nasal bone to nuchal translucency thickness and maternal serum analytes in the first trimester will improve performance. This report assesses the current literature and discusses practical issues that must be ad...