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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.Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.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.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. This article is protected by copyright. All rights reserved.

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.Die sonografische Basisuntersuchung in der Gynäkologie umfasst Diagnostik und Differenzialdiagnostik in der täglichen Praxis: Gesundheitsvorsorge, Abgrenzung der Normalbefunde von pathologischen Befunden wie kongenitale Fehlbildungen, benigne und maligne Tumoren, Adnextorsionen, entzündliche Erkrankungen des inneren Genitals, Endometriose, gestörte Frühgraviditäten und Tubargraviditäten sowie Fragestellungen zu Kontrazeption und Fertilität. Die Standardisierung der Untersuchungstechnik sowie die genaue Definition der Leistungsinhalte für die Basisdiagnostik und für die weiterführende Diagnostik (DEGUM-Stufe II) analog des schon seit Jahren in der pränatalen Diagnostik bewährten Mehrstufenkonzepts der DEGUM sind inzwischen auch in die gynäkologische Sonografie implementiert worden. Als Grundlage für eine strukturierte Aus- und Weiterbildung im Rahmen dieses Stufenkonzepts haben DEGUM, ÖGUM und SGUM die Qualitätsanforderungen und die Leistungsinhalte für gynäkologische sonografische Basisuntersuchungen (DEGUM-Stufe I) entsprechend dem gegenwärtigen Kenntnisstand sowie anhand nationaler und internationaler Standards und Empfehlungen aktualisiert.

Objectives To measure the ratio of choroid plexus (CP) size to head size in normal fetuses and to compare it to that in fetuses with open spina bifida (OSB) and quantify the subjective sign of a 'dry brain'. Methods This was a retrospective study of ultrasound images, obtained during first-trimester screening between 11 and 13 weeks of gestation, from 34 fetuses with OSB and 160 normal fetuses. From the hospital databases, we retrieved images of the fetal head in the transventricular axial plane. We measured the areas of both CPs and the head and calculated the ratio between them. We also measured the longest diameter of each CP and calculated their mean (CP length), and measured the occipitofrontal diameter (OFD) and calculated the ratio of CP length to OFD. Measurements from the OSB fetuses were plotted on crown-rump length (CRL) reference ranges constructed using data from the normal fetuses, and Z-scores were calculated. Results In the normal fetuses, the CP area increased, while the ratios of CP area to head area and CP length to OFD decreased, with increasing CRL. In 30 of the 34 (88%) fetuses with OSB, both ratios were increased significantly and the CPs filled the entirety of the head, giving the impression of a dry brain. In these cases, the borders of the lateral ventricles could not be identified. Conclusions At 11-13 weeks, the majority of fetuses with OSB have reduced fluid in the lateral ventricles such that the CPs fill the head. The dry brain sign is easily visualized during routine first-trimester ultrasound examination while measuring the biparietal diameter, and can be quantified by comparing the size of the CPs to the head size. Until prospective data confirm the usefulness of this sign in screening for OSB, it should be considered as a hint to prompt the examiner to assess thoroughly the posterior fossa and spine. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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.

Objective While complete agenesis of the corpus callosum is often suspected on fetal ultrasound due to absence of the cavum septi pellucidi (CSP), suspicion of partial agenesis of the corpus callosum (pACC) is a challenge since the CSP is almost always present. The aim of this study was to measure the length and width of the CSP and calculate the length-to-width ratio (CSP ratio), and compare these between fetuses with pACC and normal fetuses. Methods In this retrospective case–control study, the length and width of the CSP were measured in the axial plane of the fetal head, and the CSP length-to-width ratio calculated, in 323 normal fetuses and in 20 fetuses with pACC between 20 and 34 weeks' gestation. From the normal population we constructed reference ranges in relation to biparietal diameter (BPD). For all fetuses we calculated Z-scores for the CSP ratio. Results In the normal population, the length and width of the CSP increased with increasing BPD, while the CSP ratio decreased. The CSP was short ( 95th centile) in 65% (13/20). The CSP ratio was small (< 5th centile) in 95% (19/20) of pACC fetuses, with 16/20 (80%) having a ratio below an empirical cut-off of 1.5. Analysis of Z-scores showed that fetuses with pACC had a significantly smaller CSP ratio (P < 0.0001) compared with the normal population. Conclusions Fetuses with a normal-sized corpus callosum have a rectangular-shaped CSP, with a CSP ratio > 1.5 in the second half of gestation. Most fetuses with pACC have an abnormally shaped, wide and short CSP, with a decreased CSP ratio. This simple ratio has the potential to identify fetuses at high risk for pACC. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

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.Der Einsatz der Methode der Dopplersonografie in der Pränatal- und Geburtsmedizin hat sich allgemein durchgesetzt. Sie wird beim Screening auf Aneuploidie und Präeklampsie im 1. Trimester zunehmend angewendet, aber vor allem zur fetalen Zustandsdiagnostik bzw. Überwachung gefährdeter Feten bei IUGR, Anämie und anderen Erkrankungen im 2. und 3. Trimester eingesetzt. Die korrekte Anwendung der Methode der Dopplersonografie ist die Voraussetzung für die richtige Interpretation der Ergebnisse und daraus abgeleiteter klinischer Entscheidungen. Diese Qualitätsanforderungen sollen hiermit für alle Anwender formuliert werden und gleichzeitig als Grundlage für die durch die DEGUM zertifizierten Kurse dienen. Im 1. Teil werden die allgemeinen technischen Grundlagen, Gefäßgebiete, Auswertung der Spektralkurven, Fehlerquellen, Patientensicherheit und die Voraussetzungen für eine erfolgreiche Zertifizierung behandelt.

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 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.

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.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.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).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 WileySons, Ltd.