Fetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact.

Until now, ultrasound examination of the fetal eyes has not played an important role in prenatal diagnosis. National and international guidelines are generally confined to documentation of the presence of the orbits and the lenses. However, in recent years, with the advent of high-resolution ultrasound technology and increasing knowledge of prenatal medicine and genetics, careful examination of the fetal eye has enabled the detection of many ocular malformations before birth.

Ultrasound Diagnosis of Malformations of the Fetal Kidneys and Urinary System.

Malformations of the fetal kidneys and urinary system are common and easily visualized and diagnosed on ultrasound. This article presents the typical sonographic findings of these abnormalities during the various stages of pregnancy. Because malformations of the urogenital tract often have an association with genetic diseases/ciliopathies, these are also discussed.

DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine.

Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT).

Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants.

Objective: We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X.

Methods: From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant.

Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome.

Objective: Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method: Retrospective multicenter study of fetuses with confirmed diagnosis of TS.

Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?

Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses with Turner syndrome are frequently found to be hydropic on ultrasound.

Basic Gynecologic Ultrasound Examination (Level I): DEGUM, ÖGUM, and SGUM Recommendations.

Ultrasound has become an essential diagnostic tool in gynecology, and every practicing gynecologist must be able to differentiate normal from pathologic findings, such as benign or malignant pelvic masses, adnexal torsion, pelvic inflammation disease, endometriosis, ectopic pregnancies, and congenital uterine malformations at least on a basic level. A standardized approach to the correct settings of the ultrasound system, the indications for gynecologic ultrasound investigations, and the sonographic appearance of normal anatomy and common pathologic findings in the standard planes are important prerequisites for safe and confident clinical management of gynecologic patients. Based on current publications and different national and international guidelines, updated DEGUM, ÖGUM, and SGUM recommendations for the performance of basic gynecologic ultrasound examinations were established.

Quality Requirements for gynecological ultrasound examinations of DEGUM level II - Recommendations of the Sections/Working Groups Gynecology and Obstetrics of DEGUM, ÖGUM and SGUM.

Gynecological sonography is the central and most frequently used technical examination method used by gynecologists. Its focus is on the clarification of masses of the uterus and the adnexa, fertility diagnosis, clarification of bleeding disorders and chronic and acute pelvic problems, pelvic floor and incontinence diagnosis as well as the differential diagnosis of disturbed early pregnancy. The indication for diagnostic and therapeutic interventions, preoperative planning and postoperative controls are largely based on the findings of gynecological sonography.

Doppler ultrasound in pregnancy - quality requirements of DEGUM and clinical application (part 2).

This second part on Doppler sonography in prenatal medicine and obstetrics reviews its clinical applications. While this has not become the initially anticipated screening tool, it is used for the diagnosis and surveillance of a variety of fetal pathologies. For example, the sonography-based determination of uterine artery blood flow indices is an important parameter for the first trimester multimodal preeclampsia risk assessment, increasing accuracy and providing indication for the prophylactic treatment with aspirin.

Editorial.

Dear Colleagues, Now you get a new Issue of Ultrasound International Open. As always you can find a mixture of different articles dealing with the main topic ultrasound.

Recent Development in Three and Four Dimension Fetal Echocardiography.

Since its introduction >15 years ago, the use of spatial and temporal image correlation (STIC) technology has contributed substantially to fetal echocardiography. Moreover, significant advances have occurred in 3- and 4-dimensional (3D/4D) echocardiography over the past several years including the matrix probe along with advances in gray scale and color Doppler post processing, resulting in improved display of ultrasound images. In this article, we provide examples to show these recent developments including the use of color Doppler with STIC in the glass-body mode and the matrix probe thus enabling the demonstration of cardiac anomalies of the 4-chamber-view and great arteries.

[Doppler Sonography during Pregnancy - DEGUM Quality Standards and Clinical Applications].

Doppler sonography is widely established in prenatal medicine and obstetrics and is commonly used in screening for aneuploidy and preeclampsia during the first trimester. More importantly, during the 2nd and 3 rd trimester, it is used in the assessment of fetal health as well as the surveillance of underlying fetal conditions such as IUGR and anemia. Correct use of the method is vital for correct data interpretation and the inferred clinical decision process.

Dilated cavum septi pellucidi in fetuses with microdeletion 22q11.

Objectives: The cavum septi pellucidi (CSP) is an easily recognizable landmark in the fetal brain. CSP disappears after birth to form the septum pellucidum. Children with microdeletion 22q11 (del.

Fluid area measurements in the posterior fossa at 11-13 weeks in normal fetuses and fetuses with open spina bifida.

Objectives: To measure the area of the intracranial translucency (IT) (syn: 4th ventricle) and the future cisterna magna (CM) in normal fetuses and to compare with fetuses with open spina bifida.

Patients: In the midsagittal plane of the face of 220 fetuses between 11 and 13 weeks' gestation, the areas of the IT and CM were measured and the sum, defined as the posterior fossa fluid (PFF) area was calculated. Reference ranges were constructed in relation to the crown-rump length.

Three-dimensional ultrasound in prenatal diagnosis.

Purpose Of Review: Several technological advances have greatly improved three-dimensional sonography, which have improved acquisition and display capabilities. This review describes these technical changes as well as current applications of 3D sonography in prenatal diagnosis.

Recent Findings: Recently published papers have emphasized the potential of getting a precise 'any plane of choice' from a three-dimensional volume, as a new way of scanning, based on the off-line analysis of a volume dataset.

Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome.

Objective: The right subclavian artery arises normally as the first vessel from the brachiocephalic artery of the aortic arch. An aberrant right subclavian artery arises as a separate vessel from the aortic isthmus and crosses to the right, behind the trachea. This variant is present in <1% of the normal population; however, in subjects with Down syndrome, an incidence between 19% and 36% was reported.

Unusual case of a fetus with congenital cystic adenomatoid malformation of the lung associated with trisomy 13.

Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet.