The field of prenatal diagnosis, once dominated by amniocentesis and karyotype analysis for advanced maternal age, has changed significantly over the last decade with improved screening technologies reducing the use of diagnostic procedures. Much of this expansion has been associated…
Introduction The later part of the first trimester is an opportune time to assess the fetus for chromosomal aneuploidies and structural anomalies. One approach to screening is utilizing sonographic markers such as measurement of the nuchal translucency (NT) and appearance…
Adnexal Mass, Complex and Simple The majority of adnexal masses are detected incidentally during obstetric ultrasound examinations; however, some are diagnosed due to symptoms related to their size or complications. Definition An adnexal mass is a lump in the tissue…
Marginal and Velamentous Umbilical Cord Insertion Definition The placental insertion of the umbilical cord (PCI) may occur centrally into the placental disk, eccentrically at the margin, or into the membranes beyond the margin of the placenta (so-called velamentous cord insertion,…
Skeletal Dysplasia Definition Skeletal dysplasia (also known as osteochondrodysplasia ) is a genetically diverse group of >450 disorders , of the skeleton causing abnormal bone length, shape, and density, with varying degrees of disability. Incidence and Epidemiology Incidence of skeletal…
Pyelectasis Definition Pyelectasis (or pelviectasis) is a fluid collection causing dilation of the fetal renal pelvis, indicating a risk for persistent postnatal renal impairment and/or need for surgical intervention. Incidence/Epidemiology Renal pyelectasis is seen in 2%–5% of all pregnancies. Etiology/Pathogenesis…
Abdominal Ascites Definition Ascites is an abnormal fluid collection within the fetal peritoneal cavity and is often the first finding in hydrops fetalis. Ascites is present in 85% of cases of nonimmune hydrops fetalis. Isolated fetal ascites indicates there is…
Despite the widespread recognition of the importance of prenatal detection of congenital heart disease (CHD), screening for fetal heart disease remains one of the most challenging and, unfortunately, least successful aspects of fetal ultrasonography. The rate of prenatal detection of…
Congenital Diaphragmatic Hernia Definition Congenital diaphragmatic hernia (CDH) refers to an embryologic defect in the diaphragm resulting in variable degrees of herniation of abdominal contents into the thoracic cavity. Incidence and Pathogenesis Incidence is 2.4:10,000 to 4.9:10,000. Most are sporadic.…
Cleft Lip and Palate Definition Cleft lip: failure of fusion of the left, right, or bilateral maxillary prominence with the medial nasal prominence. Concomitant cleft palate is present in 80% of cases. Least severe form involves the superficial vermilion border…