Article

Early pregnancy scanning for fetal anomalies--the new standard?

Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology, The Chaim Sheba Medical Center, Tel Hashomer, Israel.
Clinical obstetrics and gynecology (Impact Factor: 2.06). 03/2012; 55(1):199-216. DOI: 10.1097/GRF.0b013e3182446ae9
Source: PubMed

ABSTRACT For many years, significant efforts have been made toward attempts at early detection of chromosomal and structural malformations, to lower the rate of these defects in newborns. Traditionally, the main ultrasound examination during pregnancy was performed in the second trimester, using transabdominal transducers. The development of high-frequency and high-resolution (5 to 9 MHz; 6 to 12 MHz) transvaginal probes along with substantial improvements in image and signal processing have opened new possibilities for the investigation of early pregnancy. Up until the recent past, many defects were considered unidentifiable early in pregnancy. A large number of those can now be diagnosed already in the first trimester. Early detection of fetal anomalies enables karyotyping by chorionic villus sampling and, in those patients in whom findings are abnormal, simpler procedures for termination of pregnancy may be performed. This may reduce physical and psychological morbidity associated with second-trimester abortions.

0 Bookmarks
 · 
98 Views
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: A first-trimester ultrasound scan has become an essential part of antenatal care. The Korean Society of Ultrasound in Obstetrics and Gynecology held a first-trimester ultrasound forum on April 5, 2014. The forum aimed to present an updated review of the literature on the topic of first-trimester ultrasound in specific lectures and to host a panel discussion on several important issues regarding first-trimester scans. The forum provided evidence- and consensus-based best practice patterns for obstetricians in Korea. Here, we report the review and checklists presented from the forum.
    Obstetrics & gynecology science. 01/2015; 58(1):1-9.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a "genetic sonogram", including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down's syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.).
    World journal of radiology. 10/2013; 5(10):356-371.
  • [Show abstract] [Hide abstract]
    ABSTRACT: The aim of this study is to assess the rate of prenatal detection of multiple congenital contractures, to identify reasons for the failure of prenatal diagnosis and to propose the first guidelines to improve prenatal diagnosis. We evaluated records on 107 individuals recognized at birth to have Amyoplasia. We reviewed the literature on the onset and development of fetal activity, antenatal clinical signs in fetal movement disorders, prenatal studies of fetal movement and contractures by ultrasound and magnetic resonance imaging (MRI) and existing guidelines. In 73.8%, the diagnosis was missed prenatally. Correct diagnosis was achieved by the identification of bilateral clubfeet on ultrasound or because mothers perceived reduced fetal movement. Ultrasound would be able to visualize contractures, joint positioning, the quality of fetal movements, lung size, muscle tissue, and bone growth in the first or early second trimester. MRI results are promising. Guidelines for assessing early fetal movement do not exist. Prenatal detection rate of multiple congenital contractures is appalling. Failure of diagnosis precludes further etiologic and diagnostic workup and deprives families of making informed pregnancy choices. Standards for prenatal diagnosis are lacking, but on the basis of current knowledge and expert opinion, we propose the first guidelines for a prenatal diagnostic strategy, discuss future directions and the need for multicentric studies. © 2013 John Wiley & Sons, Ltd.
    Prenatal Diagnosis 01/2013; 33(1):61-74. · 2.68 Impact Factor