Fetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact. / Ultraschall des fetalen Auges: Normale Anatomie, abnorme Befunde und klinische Bedeutung.

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. This article provides an overview of the anatomy related to the development of the fetal eye and covers the following conditions: hypertelorism, hypotelorism, exophthalmos, microphthalmos, coloboma, cataract, persistent hyperplastic primary vitreous, retinal detachment, dacryocystocele, and septooptic dysplasia, etc. It is designed to illustrate the spectrum of ocular malformations and their appearance on prenatal ultrasound and to discuss their clinical impact and association with various syndromes.

Ultrasound Diagnosis of Malformations of the Fetal Kidneys and Urinary System. / Die Ultraschalldiagnostik von Fehlbildungen der fetalen Nieren und des harnableitenden Systems.

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. To complete the article, we provide a brief overview of the normal anatomy of the kidneys and urinary system. The normal anatomy and malformations of the genitalia will not be discussed in this article due to their complexity.

DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine. / Empfehlungen der DEGUM zu diagnostischen Punktionen in der Pränatalmedizin.

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). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.

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. RESULTS: We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with "variant" karyotypes had different anomalies. CONCLUSION: Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or 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. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. RESULTS: 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. CONCLUSION: TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.

Basic Gynecologic Ultrasound Examination (Level I): DEGUM, ÖGUM, and SGUM Recommendations. / Qualitätsanforderungen an gynäkologische Ultraschall-Untersuchungen der DEGUM-Stufe I: Empfehlungen der DEGUM, ÖGUM und SGUM.

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.

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. We designed a retrospective multicenter study to evaluate the risk for Mirror syndrome among pregnancies complicated with Turner syndrome and fetal hydrops. Data were extracted from a questionnaire sent to specialists in maternal fetal medicine in Germany. Out of 758 cases, 138 fulfilled our inclusion criteria and were included in the analysis. Of the included 138, 66 presented with persisting hydrops at or after 16 weeks. The frequency of placental hydrops/placentomegaly was rather low (8.1%). Of note, no Mirror syndrome was observed in our study cohort. We propose that the risk of this pregnancy complication varies according to the subjacent cause of fetal hydrops. In Turner syndrome, the risk for Mirror syndrome is lower than that reported in the literature. Our observations are relevant for clinical management and parental counseling.

Quality Requirements for gynecological ultrasound examinations of DEGUM level II - Recommendations of the Sections/Working Groups Gynecology and Obstetrics of DEGUM, ÖGUM and SGUM. / Qualitätsanforderungen an die gynäkologischen Ultraschalluntersuchungen der DEGUM Stufe II ­ Empfehlungen der Sektionen/Arbeitskreise Gynäkologie und Geburtshilfe der DEGUM, ÖGUM und 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. These examinations are particularly dependent on the experience of the examiner.Based on the proven multi-stage concept of obstetric diagnostics, gynecological sonography should primarily be performed by an experienced and specialized examiner in patients for whom the initial gynecological examinations have not yet led to a sufficient assessment of the findings. So that the expert status required for this has an objective basis, the Gynecology and Obstetrics Section of DEGUM in cooperation with ÖGUM and SGUM implemented the option of acquiring DEGUM Level II for gynecological sonography. The effectiveness of the care in the multi-level concept depends on the quality of the ultrasound examination at level I. Quality requirements for the basic examination and the differentiation between the basic and further examination have therefore already been defined by DEGUM/ÖGUM. The present work is intended to set out quality requirements for gynecological sonography of DEGUM level II and for the correspondingly certified gynecologists.Common pathologies from gynecological sonography and requirements for imaging and documentation are described.

Doppler ultrasound in pregnancy - quality requirements of DEGUM and clinical application (part 2). / Dopplersonografie in der Schwangerschaft ­ Qualitätsanforderungen der DEGUM und klinischer Einsatz (Teil 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. It also has significant implications for the diagnosis and surveillance of growth-restricted fetuses in the second and third trimesters through Doppler-sonographic analysis of umbilical artery, middle cerebral artery and ductus venosus. Here, especially the hemodynamics of the ductus venosus provides a critical criterium for birth management of severe, early-onset FGR before 34 + 0 weeks of gestation. Further, determination of maximum blood flow velocity of the middle cerebral artery is a central parameter in fetal diagnosis of anemia which has been significantly improved by this analysis. However, it is important to note that the mentioned improvements can only be achieved through highest methodological quality. Importantly, all these analyses are also applied to twins and higher order multiples. Here, for the differential diagnosis of specific complications such as TTTS, TAPS and TRAP, the application of Doppler sonography has become indispensable. To conclude, the successful application of Doppler sonography requires both exact methodology and precise pathophysiological interpretation of the data.

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. The use of the matrix probe allows the examination of cardiac structures in 2 orthogonal planes simultaneously, which can help in display of anatomy side by side (Biplane mode). In addition, the rapid image reconstruction of the matrix probe allows for the display of live 4D and the rapid acquisition of a STIC volume. The display of multiplanar images of the heart in 3D/4D has also been used to automate the display of ultrasound images, resulting in standardization of the image display and thus minimizing the operation dependency of the ultrasound examination. Future addition of image recognition software can also provide assistance in image review.

[Doppler Sonography during Pregnancy - DEGUM Quality Standards and Clinical Applications]. / Dopplersonografie in der Schwangerschaft ­ Qualitätsanforderungen der DEGUM und klinischer Einsatz (Teil 1).

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. Therefore, we aim to provide all users of doppler sonography with a guide for meeting the required quality standards. These quality standards will further be the basis of DEGUM-certified training courses. In the first part, we will introduce the technical principles of the method and potential error sources, vascular disciplines to which the method can be applied, analysis of the spectral curves, patient safety and the needed requirements for successful certification.

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. 22q11) were, however, reported to have a persistent dilated CSP. This study was designed to examine whether the CSP is dilated in fetuses with del.22q11. METHODS: This was a case-control study where the CSP width was measured in normal fetuses from 16 to 34 weeks and in fetuses with del. 22q11. CSP width was correlated to the biparietal diameter (BPD). Reference curves were constructed, and z-scores calculated. RESULTS: Cavum septi pellucidi width in 260 normal fetuses showed a linear correlation with BPD. The study group consisted of 37 fetuses with del. 22q11. In 25/37 (67.5%) of fetuses with del. 22q11, the CSP was enlarged with a mean z-score of 2.64 (p < 0.0001). Fetuses with a BPD > 50 mm (>22 weeks of gestation) had a dilated CSP in 85.7% (24/28). CONCLUSIONS: The CSP is a structure routinely evaluated in screening ultrasound. A wide CSP is found in second trimester fetuses with del. 22q11. A dilated CSP may be an important sonographic marker for the presence of del. 22q11 along with conotruncal malformations and thymic hypoplasia. © 2016 John Wiley & Sons, Ltd.

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. The study group consisted of 21 fetuses with open spina bifida and showed in all cases a single pocket of fluid in the posterior fossa. Fetuses with no fluid in the fossa were excluded. This PFF-area was measured and compared with the reference range of the IT-area and the PFF-area of normal fetuses and Z-scores were calculated. RESULTS: In normal fetuses, a significant increase of the IT-, the CM- and the PFF-area was found as a sign of the expanding posterior fossa. The mean PFF-area increased from 8.55 to 29.72 mm(2) in the observation period. Fetuses with open spina bifida had reduced fluid in the posterior fossa with values ranging between 2.39 and 5.08 mm(2) and significantly lower Z-scores. CONCLUSIONS: Fetuses with open spina bifida have an abnormally small posterior fossa at 11-13 weeks' and in cases where the cerebrospinal fluid is still present, the fluid area in the midsagittal plane is reduced when compared to normal fetuses. Area fluid assessment can be an additional useful measurement in suspicious cases for open spina bifida in early gestation.

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. Surface mode has been used to demonstrate malformations and genetic diseases. The maximum rendering mode, which highlights bones, has great potential for imaging the nasal bones and the frontal bones with the metopic suture. Organ volume can be measured, but the utility of this in clinical practice remains to be determined. Three-dimensional ultrasound needs to be standardized. SUMMARY: Three-dimensional ultrasonography is the most rapidly developing technique in fetal imaging. New features will permit the transition from the era of 'sonography in two-dimensional planes' to 'volume ultrasound'.

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. The purpose of this study was to assess the possibility of the detection of an aberrant right subclavian artery in fetuses with Down syndrome. STUDY DESIGN: Fourteen consecutive fetuses with prenatally detected Down syndrome were examined between 18 and 33 weeks of gestation. The presence of an aberrant right subclavian artery was determined by visualization of the transverse 3-vessel trachea view of the upper thorax with color Doppler ultrasonography. RESULTS: The right subclavian artery was visualized in 100% of fetuses (14/14) with Down syndrome. An aberrant right subclavian artery was identified in 35.7% of trisomy 21 fetuses (5/14). In 1 fetus, the aberrant right subclavian artery was the only abnormal ultrasound finding. In 3 fetuses, an aberrant right subclavian artery was associated with an intracardiac echogenic focus plus additional extracardiac markers. In the fourth fetus, an aberrant right subclavian artery was associated with an atrioventricular septal defect. All 9 fetuses with Down syndrome with a normal origin of the right subclavian artery had additional cardiac and/or extracardiac abnormalities. In 12 cases, pregnancy was terminated; 2 fetuses were live born. CONCLUSION: This preliminary study suggests that the in utero identification of an aberrant right subclavian artery may be a new ultrasound marker to be found in fetuses with Down syndrome. Further studies are required to assess the incidence of aberrant right subclavian artery in normal fetuses.

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. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is-even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis-to carry out a directed diagnosis including a fetal karyotyping.