Abnormal fetal ultrasound (general)

INTRODUCTION: Cerebral ventriculomegaly is one of the most commonly detected fetal anomalies at the midtrimester ultrasound. Current evidence suggests that magnetic resonance imaging (MRI) is indicated when the isolated ventriculomegaly (IVM) on ultrasound is severe (>15 mm), but there is less agreement when IVM is mild or moderate (10-15 mm). The current study aimed to determine the frequency and nature of additional findings on MRI in IVM and their relationship to the severity of VM and gestational age...

The müllerian ducts are paired embryologic structures that undergo fusion and resorption in utero to give rise to the uterus, fallopian tubes, cervix, and upper two-thirds of the vagina. Interruption of normal development of the müllerian ducts can result in formation of müllerian duct anomalies (MDAs). MDAs are a broad and complex spectrum of abnormalities that are often associated with primary amenorrhea, infertility, obstetric complications, and endometriosis. MDAs are commonly associated with renal and other anomalies; thus, identification of both kidneys is important...

Myelomeningocele (MMC) is one of the most devastating, nonlethal congenital anomalies worldwide. The live birth prevalence of MMC changed dramatically in the 1980s with the introduction of maternal serum screening and the widespread use of prenatal ultrasound imaging. The high-resolution ultrasound affordable today with state-of-the-art equipment allows us to make a very accurate diagnosis of MMC, including details related to the entire fetal central nervous system. Ultrasound can accurately localize the site of the osseous and soft tissue defects...

OBJECTIVE: The objective of this article is to determine the success rate of prenatally diagnosed isolated aqueductal stenosis (AS) as a first step in an evidence-based reassessment of ventriculoamniotic shunting for isolated AS. METHODS: Cases of ventriculomegaly at Magee-Womens Hospital between 2006 and 2013 were ascertained. AS was suspected when prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated signs of pressure hydrocephalus. The prenatal diagnosis generated by ultrasound and MRI was compared with the postnatal diagnosis based upon neonatal neuroimaging...

OBJECTIVES: To describe a method of quantifying the amount of liver herniation in fetuses with isolated congenital diaphragmatic hernia (CDH) using two-dimensional ultrasonography and to correlate this finding with neonatal outcome. METHODS: Ultrasound images obtained from 77 consecutive fetuses that presented with isolated CDH between January 2004 and July 2012 were reviewed. Liver herniation and thoracic area were measured in a cross-sectional plane of the fetal chest at the level of the four-chamber view of the heart (the same section as is used to measure the lung area-to-head circumference ratio) and the ultrasound-derived liver-to-thoracic area ratio (US-LiTR) was calculated by dividing the liver herniation area by the thoracic area...

PURPOSE: To evaluate the feasibility of umbilical cord scanning during the second-trimester sonographic examination, we looked at the method of scanning, the findings, and the time spent. METHODS: Five hundred forty-nine singleton pregnancies were evaluated at 18-23 weeks' menstrual age with two-dimensional sonography (US). Color Doppler US was used when needed. The umbilical cord was traced from the fetal insertion site to the placental insertion site. Fetal and placental sites of insertion; number of vessels; presence of knots, cysts, tumors, nuchal cords, or placental anomalies; time spent for scanning; and the use of color Doppler US were noted...

OBJECTIVE: Array comparative genomic hybridization (aCGH) is a molecular cytogenetic technique that is able to detect the presence of copy number variants (CNVs) within the genome. The detection rate of imbalances by aCGH compared to standard karyotyping and 22q11 microdeletion analysis by fluorescence in-situ hybridization (FISH), in the setting of prenatally-diagnosed cardiac malformations, has been reported in several studies. The objective of our study was to perform a systematic literature review and meta-analysis to document the additional diagnostic gain of using aCGH in cases of congenital heart disease (CHD) diagnosed by prenatal ultrasound examination, with the aim of assisting clinicians to determine whether aCGH analysis is warranted when an ultrasonographic diagnosis of CHD is made, and to guide counseling in this setting...

OBJECTIVE: Nuchal translucency (NT) seen ultrasonographically at 11-14 weeks' gestation is a sensitive marker for Down syndrome. Despite its important role for Down syndrome screening, its use is still considered controversial due to high false-positive rates. We speculated that progesterone could lead to abnormal blood flow patterns and, subsequently, to increased NT. Our primary endpoint was to evaluate the effects of exogenous progesterone on NT thickness compared to controls. The secondary endpoint was to evaluate these effects in a subgroup at low risk for fetal aneuploidies, identifying the strongest factors influencing NT variation...

OBJECTIVE: The purpose of this study was to investigate the clinical outcome of fetal pericardial effusion (PE). METHODS: This study involved a retrospective review of prenatally diagnosed PE cases. The criterion for inclusion was pericardial fluid in an area greater than 2 mm in diameter. RESULTS: A total of 276 cases of PE and 252 cases diagnosed with other anomalies were initially reviewed. PE is associated with cardiac malformation, hydrops fetalis, extracardiac abnormalities, infections, anemias, intrauterine growth restriction, and aneuploidy markers in fetuses...

BACKGROUND: Umbilical artery aneurysm is a rare and often lethal condition frequently associated with fetal anomalies, fetal demise, and neonatal complications. CASE: We report a case of umbilical artery aneurysm discovered at 21 weeks 2 days of gestation in a fetus of normal karyotype. Maternal hospitalization occurred at 28 weeks for antenatal testing, betamethasone administration, and monitoring for expansion of the aneurysm. Delivery of a live neonate by repeat cesarean delivery was performed at 32 weeks 2 days...

Sonographic soft markers of fetal Down syndrome were first reported in the 1980s. With improvements in aneuploidy screening, detection rates of 90% and higher are possible, and such screening is offered to women of all ages. The utility of sonographic detection and reporting of soft markers, particularly to women at low risk of fetal aneuploidy, is controversial. Some soft markers have no additional significance beyond an association with aneuploidy, while some potentially indicate other pathology, and therefore require sonographic follow-up or other evaluation...

To examine the association between isolated single umbilical artery (SUA) and congenital heart disease/adverse perinatal outcome in an Australian tertiary centre. The study population was comprised of fetuses diagnosed with SUA at the mid-trimester scan between May 2003 and March 2009 during detailed ultrasound examination at The Royal Women's Hospital Melbourne, Australia. Colour Doppler was used to visualise the umbilical arteries adjacent to the fetal bladder and in a section of a free loop of cord. The diagnosis of SUA was confirmed on histopathology examination of the placenta and umbilical cord...

OBJECTIVE: We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants. STUDY DESIGN: Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3...