Franz Bahlmann

Three-dimensional ultrasonography in prenatal diagnosis.

Within the past five years, 3D ultrasonography has developed to the degree that it offers both the patient and the examiner an entirely new visual experience in prenatal diagnosis. With the system described here (Kretz-technik, Austria), any desired plane can be displayed within the stored volume, and within seconds a high-quality 3D surface or transparent image can be calculated and displayed on the ultrasound monitor without need for an external workstation. All of this can be performed routinely in the clinical setting. Since 1989 we have routinely examined a total of 458 fetuses (242 normal and 216 with anomalies) between 16 and 38 weeks of gestation, supplementing our conventional 2D ultrasound scans with a 3D examination using an abdominal volume transducer. A comparison of the 2D and 3D techniques shows that 3D provides a diagnostic gain in a large percentage of cases (64.2%). The simplest 3D technique of the orthogonal image display provided a diagnostic gain in 46.2% (61/132) of the cases owing to the accurate topographic depiction of the desired image plane. The combined 3D display (orthogonal format plus a 3D surface or transparent view) provided a diagnostic gain in 71.5% (233/326) of the cases. This higher percentage resulted from the additional 3D surface reconstruction, the ability to view and evaluate the fetus from various angles, the ability to determine the exact size of a fetal defect, the depiction of skeletal anatomy in the transparent mode, and the improved delineation of complex malformations. Problems with 3D imaging are encountered in patients with pronounced oligohydramnios, which prevents surface reconstruction, and in the examination of moving objects, which produce motion artifacts.

Blood flow velocity waveforms of the fetal middle cerebral artery in a normal population: reference values from 18 weeks to 42 weeks of gestation

Abstract The aim of this prospective cross-sectional study was to establish new Doppler reference curves for peak blood flow velocities (Vmax, Vmean, Vmin) and impedance indices (PI, RI) of the middle cerebral artery at 18–42 weeks of gestation by an automatic wave form analysis integrated into the ultrasound device. In 962 low-risk pregnancies, blood flow velocities were derived from the middle cerebral artery with pulsed color Doppler ultrasonography. Reference curves were constructed for the individual parameters based on a growth function from a fourparameter class of monotonic continuous functions according to the smallest square principle for maximum blood flow velocities, as well as on a polynomial function for resistance indices. Further assessed was intra-observer reliability. The results obtained for maximum blood flow velocities demonstrate a continuous increase (Vmax = 26.8 cm/s to 59.1 cm/s, Vmean = 11.2 cm/s to 29.7 cm/s and Vmin = 4.9 to 15.8 cm/s) over the period from 18 to 42 weeks of gestation. In contrast, reference curves for the pulsatility and the resistance index are characterized by a parabolic pattern (18 weeks: 1.5; 28 weeks: 1.9; 42 weeks: 1.1 and 18 weeks: 0.68; 28 weeks 0.8; 42 weeks: 0.61). Intraobserver reliability for PI, RI, Vmax, Vmean, and Vmax were 87%, 83%, 80%, 83% and 93%, respectively. At constant measurement conditions, the reference ranges for blood flow velocities and impedance indices in the middle cerebral artery established by this study were found to be a useful non-invasive tool in risk assessment for fetal anemia, as well as in the Doppler ultrasound observation of the course in fetuses with intrauterine growth restriction.

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

BackgroundLysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%.Patients and methodsWe report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination.ResultsAt present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication.ConclusionsLSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD.

Prenatal sonographic chest and lung measurements for predicting severe pulmonary hypoplasia

Pulmonary hypoplasia was diagnosed sonographically in 32 fetuses from 20 to 33 weeks of gestation. In addition to standard biometry, transverse thoracic diameter (TTD), sagittal thoracic diameter (TSD), thoracic circumference (TC) and lung diameter (LD) were measured in all cases and compared with known nomograms.

Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening

Multicystic dysplastic kidney (MCDK) is the most common antenatally diagnosed cystic renal pathology. It refers to the presence of multiple kidney cysts surrounded by dysplastic parenchymal tissue. The typical MCDK ultrasound finding shows multiple nonconnecting thin‐walled cysts within an irregularly outlined kidney. We want to present our own cases as an addition to the relatively scarce literature about MCDK.

Natriuretic peptide levels in intrauterine growth-restricted fetuses with absent and reversed end-diastolic flow of the umbilical artery in relation to ductus venosus flow velocities

Abstract Objective: To determine if changes in natriuretic peptide levels [propeptide of atrial natriuretic peptide (proANP) and N-terminal propeptide of brain natriuretic peptide (NT-proBNP)] can be demonstrated in fetuses with serious growth restriction and Doppler ultrasonographic findings of hemodynamic compromise. Method: Natriuretic peptides of the umbilical vein (proANP and NT-proBNP), arterial and venous blood gases, as well as lactate levels of the umbilical vein were determined in 38 appropriate for gestational age (AGA) fetuses, and 24 intrauterine growth-restricted (IUGR) fetuses with absent (zero-flow) and 17 IUGR fetuses with reversed end-diastolic flow (reverse-flow) of the umbilical artery. Results: A continuous increase in natriuretic peptides in the presence of progressive deterioration was shown. ANP concentrations were significantly lower in the AGA group (mean 818 fmol/mL; range 508–991 fmol/mL) than the zero-flow group (mean 19,680 fmol/mL; range 13,680–25,080 fmol/mL) and the reverse-flow group (mean 33,880 fmol/mL; range 24,365–41,786 fmol/mL). Significant differences were further demonstrated in BNP concentrations of the AGA group (mean 32 fmol/L; range 25–38 fmol/L), zero-flow group (mean 1191 fmol/L; range 908–1655 fmol/L), and reverse-flow group (mean 3063 fmol/L; range 1281–4968 fmol/L). Additionally, significant differences in lactate concentrations were observed for the three groups: AGA, 2.6 mmol/L (range 2–3 mmol/L); zero-flow group, 4.1 mmol/L (range 3.3–5 mmol/L); and reverse-flow group, 7.7 mmol/L (range 5.9–13.7 mmol/L). Increased ANP levels correlated with the arterial base excess and lactate concentrations, as well as with the flow velocities in the ductus venosus during atrial contraction (a-wave), and both ductus venosus indices (S–a)/D and (S–a)/V mean. No correlations were established for BNP. Conclusions: As components of a compensatory mechanism, natriuretic peptides exert an influence on the cardiovascular function of the fetus.

11β-hydroxysteroid dehydrogenase (11β-HSD-II) activity in human placenta: Its relationship to placental weight and birth weight and its possible role in hypertension

Abstract It has been assumed that low birth weight and high placenta weight were key factors for predicting hypertension in human adulthood. Adeficiency in placental 11β-HSD-II enzyme activity was supposed to be the underlying cause. To possibly establish 11β-HSD-II as a leading factor, we determined 11β-HSD-II activities in 133 healthy pregnancies, 21 proteinuric pregnancies complicated by pregnancy-induced hypertension (PIH), 26 non proteinuric PIH pregnancies and 15 pregnancies complicated by fetal growth restriction (32nd–41st gestational week). We could not identify differences in 11β-HSD-II activity between pregnancies with the rare combination of small babies with big placentas and others (p 5 0,59; Kruskal-Wallis test). And although there was no correlation between 11β-HSD-II activity and birth weight, in the control gestational age correlated with 11β-HSD-II activity (r = 0,22; p < 0.05; Spearman). 11β-HSD-II activity in the proteinuric PIH group was significantly higher than in the controls (11,7 pmol/min/mg prot.; range 10–13,2 vs. 7,9; range 7,0–9,1; p < 0,05). The lowest, but not significant, enzyme activities were in the IUGR group (5,8 pmol/min/mg prot.; range 4,0–9,2). In this group, analysis of variance detected a correlation between enzyme activity and placental weight. In conclusion, we could not confirm that placental 11β-HSD-II deficiencies act as an indicator for the risk of adult hypertension in small fetuses with large placentas. However, in growth restriction 11β-HSD-II activity might play a role. To clarify the influence in this group, further research is needed. Increased 11β-HSD-II activities with gestational age in the control may serve to sustain fetal adrenal steroid genesis and to prepare the fetus for autonomic life.

Measuring cervical strain with tissue Doppler imaging depending on the shape and placement of the region of interest and its correlation with cervical consistency index.

OBJECTIVES We want to evaluate tissue Doppler imaging (TDI) for measuring cervical strain. We compare three different methods for measuring strain depending on the region of interest (ROI) placement and evaluate patient discomfort. We correlate the strain measured through TDI with cervical consistency index (CCI), cervical length and width of both cervical lips. STUDY DESIGN This is a prospective study in 30 singleton primigravida pregnancies without obstetrical risks between 40+0 and 41+3 weeks of gestation. The CCI was calculated according to Parra-Saavedra et al. We tested three methods of measuring cervical elasticity depending on shape and location of ROIs. RESULTS The CCI ranged between 36.4% and 71.9% with an average of 50.78%. The CCI shows negative correlation with strain and no correlation with cervical length or with the width of either cervical lip. The strain measurements regardless of tested method were reproducible and independent on cervical length. The average strain was higher in outer cervical regions. The ROIs placed on the anterior lip had higher reproducibility than those placed on the posterior lip. The average score for patient discomfort during examination was 3.7/10. CONCLUSION The strain depends on the size and location of ROIs. The circular ROIs with diameter equal to the width of the cervical lip are recommended. There is a correlation between CCI and TDI. The cervix shows heterogeneous consistency with increased stiffness from the outer to the inner sections. The TDI seems to be an easy to learn, quickly to perform, acceptable and reproducible method for measuring cervical elasticity. There is room for optimization and refinement of measuring methods before being tested for clinical significance.

Liver rupture in HELLP syndrome

Abstract We report on a 30-year-old Caucasian woman admitted to our clinic after 34 weeks of gestation because of a severe partial hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. A cesarean section was performed when her clinical symptoms and laboratory values worsened. Intraoperatively she was diagnosed with hepatic subcapsular hematoma and liver rupture. Surgical treatment, including perihepatic packing with sterile towels removed 2 days post-surgery, resulted in an uneventful recovery. The patient was discharged 26 days after admission. Case reports such as ours may contribute to the management of pregnancies complicated by hepatic hematoma and rupture of the liver capsule associated to HELLP syndrome.

Everolimus treatment of a fetal intracardiac rhabdomyoma not associated with the tuberous sclerosis complex: a case report

Abstract Introduction Benign cardiac rhabdomyomas are the most common cardiac tumors in fetuses and children. They are most often located in the ventricles and may disturb myocardial function, the severity correlating with location and size of the tumor. Rhabdomyomas are commonly associated with the tuberous sclerosis complex (TSC) and are the first clinical manifestation in 50–80% of the cases [Isaacs H Jr. Fetal and neonatal cardiac tumors. Pediatr Cardiol. 2004;25:252–73, Colosi E, Russo C, Macaluso G, Musone R, Catalano C. Sonographic diagnosis of fetal cardiac rhabdomyomas and cerebral tubers: a case report of prenatal tuberous sclerosis. J Prenat Med. 2013;7:51–5]. Several authors have documented the sensitivity of TSC-associated rhabdomyomas to everolimus treatment [Hoshal SG, Samuel BP, Schneider JR, Mammen L, Vettukattil JJ. Regression of massive cardiac rhabdomyoma on everolimus therapy. Pediatr Int. 2016;58:397–9, Mlczoch E, Hanslik A, Luckner D, Kitzmüller E, Prayer D, Michel-Behnke I. Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus. Ultrasound Obstet Gynecol. 2015;45:618–21, Tiberio D, Franz DN, Phillips JR. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics. 2011;127:e1335–7]. The present study provides convincing evidence of successful everolimus therapy in a newborn without the TSC complex. Case presentation A cardiac rhabdomyoma measuring 35 × 28 × 24 mm was seen in a fetus in pre- and postnatal echocardiography. There was no family history for TSC and amniocentesis showed no mutations in the TSC1/TSC2 genes. Off-label treatment with everolimus began when the neonate was 11 days old and was discontinued when the infant was 11 months old after echocardiography showed marked regression of tumor size and improvement of the tricuspid valve insufficiency. Echocardiography 3 months later showed an increase in size to 13.2 × 9 mm, so that everolimus therapy was re-instated. The next echocardiography, 10 weeks later, showed renewed regression of tumor size and a residual moderate tricuspid valve insufficiency under everolimus therapy. Discussion The present report of a rhabdomyoma in a newborn without an association with TSC is of interest because it identifies a treatment effect of everolimus. A medical approach in patients with cardiac decompensation due to intracardiac rhabdomyomas offers an attractive alternative to surgery.