M. Rehn

Arterial and ductus venosus Doppler in fetuses with absent or reverse end‐diastolic flow in the umbilical artery: correlation with short‐term perinatal outcome

Background.  High perinatal morbidity and mortality rates have been reported in association with absent or reverse end‐diastolic flow velocities in the umbilical artery. Doppler of fetal venous blood flow might be a helpful instrument for predicting fetal outcome. However, clinical data addressing this issue are rare. Thus, the aim of this study was to evaluate arterial and ductus venosus blood flow velocities as a predictor of short‐term outcome in fetuses with umbilical absent or reverse end‐diastolic flow velocities .

Arterial and Ductus venosus Doppler in Fetuses with Absent or Reverse End-Diastolic Flow in the Umbilical Artery: Longitudinal Analysis

Objective: To evaluate alterations of arterial and ductus venosus blood flow velocities during deterioration and their interdependence. Methods: 37 high-risk pregnancies complicated by umbilical absent or reverse end-diastolic flow velocities (AREDV) were monitored by measurement of the pulsatility index of the umbilical artery, middle cerebral artery and ductus venosus waveforms. Results: The mean observation period was 16.5 days. There was a significant change in the pulsatility of waveforms in all vessels over the observation period. Compared with the ductus venosus, pulsatility of waveforms in the middle cerebral artery diverged from the normal range 2.2 weeks earlier. Increase in pulsatility in the umbilical artery was concomitant with venous but not with cerebral flow alterations. In addition, there was a correlation between the increase of venous but not arterial pulsatility and perinatal acidemia. Variability of pulsatility index values of the umbilical artery and the ductus venosus but not of the middle cerebral artery increased towards delivery. Conclusions: Ductus venosus Doppler allows detection of further deterioration in centralized fetuses with umbilical AREDV. However, striking short-term variability has to be taken into account when considering this parameter.

Normalisation of a severely abnormal ductus venosus Doppler flow velocity waveform in a growth-retarded fetus with absent end-diastolic flow in the umbilical artery and congenital anomalies.

Abstract Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time of delivery in pregnancies with fetal growth retardation and AREDV. An improvement of arterial Doppler flow velocities has been described. We report the reappearance of a normal end-diastolic flow velocity in a ductus venosus temporarily showing reversed end-diastolic flow in a growth-retarded fetus with congenital anomalies. This normalization was accompanied by an improvement of the CTG, a loss of umbilical vein pulsations, a reappearance of umbilical diastolic flow and a progressive return of cerebral and venous blood flow into the ‘normal’ range. Improvement of fetal condition may be the explanation for our observation.

Prognosefaktoren des perinatalen Kurzzeitergebnisses bei schwerer Plazentainsuffizienz mit dopplersonografisch enddiastolischem Null- und Rückfluss in der Art. umbilicalis

Significant placental insufficiency, indicated by Doppler ultrasound findings of absent or reverse end-diastolic flow velocities (AREDV), is associated with increased morbidity and mortality. Analysis of blood flow in the ductus venosus should assist in early intrauterine recognition of threatened foetuses. 58 high-risk pregnancies with umbilical AREDV were repeatedly examined (n=364). Doppler findings were correlated with neonatal signs of deterioration (ratio of normoblasts to leukocytes, pH, base excess, Apgar score), as well as short-term morbidity [need for intubation, duration of assisted respiration, evidence of respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), necrotising enterocolitis (NEC), intraventricular haemorrhage (IVH grade III+IV)] against the analysis of the blood flow findings (normal or increased pulsitility, absence or reverse end-diastolic flow) in the umbilical arteries (AU), the middle cerebral arteries (ACM) and ductus venosus (DV) relating these to birth weight and the duration of the pregnancy. The median period of observation was 12.8 days, 48% of the foetuses showed an abnormal ductus venosus flow and 26% an absent venous or reverse end-diastolic flow. The median date of delivery was 30 weeks, with a mean birth weight of 816 g. 93% were live births with 12% dying postnatally. Although the criteria for postnatal morbidity (BPD, NEC, IVH III+IV) and mortality did not correlate with changes in arterial and venous Doppler parameters in our group, there was a significant relationship between the normoblast count, known to be a marker of chronic hypoxia. The Apgar 10 minte score, umbilical arterial pH and base excess were correlated with changes in the DV flow curves. Healthy survival started, irrespective of arterial or venous blood flow criteria, from 27+0 weeks of pregnancy. If born between 27.0 and 30+6 weeks, the infants were more likely to be healthy the less the blood flow had been compromised. A birth weight of 590 g (sensitivity 62.5%; specificity 93.5%) and gestational age of 28+5 weeks (sensitivity 87.5%; specificity 90.3%) were shown to be cut-off points between healthy survival and survival with serious neonatal complications.

Umbilical cord entanglement in monoamniotic twins.

Monoamniotic twins are very rare, occurring with a frequency of 0.004% of all live births1. When a human embryo, at blastocyst stage, divides as late as the 8th day following fertilization, the result is monochorionic monoamniotic twins, which constitute approximately only 1% of all monozygotic twins2. Due to the numerous possible complications associated with monoamniocity, early delivery at 32 weeks’ gestation by primary Cesarean section is recommended1. The perinatal mortality rate is 28–60%. We report clinical and imaging findings in a 27year-old primigravida, who came to our clinic for the first time at 22 + 4 weeks of pregnancy. In the first trimester, the referring gynecologist had diagnosed monoamniotic twin pregnancy. There were no other pregnancy-associated complications. Weekly ultrasound follow-up examinations showed appropriate growth of both fetuses and absence of signs of twin-totwin transfusion syndrome. No fetal anomalies were diagnosed. Umbilical artery and fetal middle cerebral artery blood flow measurements were normal in both cases. The umbilical cord had a ball-of-wool-like configuration (Figure 1a). On color Doppler sonography there were no signs of a knot or constriction (Figure 1). To optimize monitoring, the patient was admitted at the 30th week of gestation. Cardiotocography was performed daily and showed no abnormal results. In order to avoid possible complications associated with cord entanglement, a primary Cesarean section was performed at 32 + 5 weeks. Delivery of the first twin showed it to be normally developed and the umbilical cord was cut without complication (Apgar scores, 7, 8 and 9 at 1, 5 and 10 min, respectively; arterial pH, 7.36; weight, 1920 g). The second twin (Apgar scores, 8, 9 and 9; arterial pH, 7.36, weight, 1470 g) had multiple coils of umbilical cord wrapped around the neck (Figure 2a). The umbilical cord convolution involved the cords of both twins (Figure 2b). The neonatal period and pediatric follow-up were problem-free. Due to the lack of prospective randomized studies, there is no consensus regarding the monitoring of Figure 1 Umbilical cord entanglement on two-dimensional (a) and three-dimensional (b) color Doppler imaging in monoamniotic twins at 28 weeks’ gestation.

Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.Gly510Asp) in a fetus who presented with generalized hydrops fetalis and severe micromelia during prenatal sonographic examinations. Initially, a reciprocal translocation t(4;17)(q31;p13) was detected in this fetus by chorionic villus sampling. Subsequent chromosomal analysis of maternal and paternal blood showed that the patients mother was carrier of the same reciprocal translocation. SNP array analysis of the fetus did not provide evidence for chromosomal imbalances or CNVs that could be associated with the fetal phenotype. The coexistence of a cytogenetic (reciprocal translocation) and a molecular genetic (COL2A1 mutation) abnormality in the fetus carries important implications for genetic counseling.

Unerwartete Atemnot im Kreißsaal – eine seltene Differenzialdiagnose für Geburtshelfer und Neonatologen

We present the case of a female infant born prematurely at 34 weeks of gestation. Prenatally a midsized ventricular septal defect was diagnosed. Due to marked respiratory distress intubation was attempted but failed, since the tube could not be placed beyond the glottis. Oxygenation could be improved by nasopharyngeal bag ventilation. The clinical course as well as radiographic imaging was suggestive for a complete tracheal agenesis with broncho-oesophageal fistula which was confirmed at autopsy. Tracheal agenesis (TA) is a rare differential diagnosis of postnatal respiratory distress and the obstetrician or neonatologist will regularly be surprised by this malformation. Partial or complete absence of the trachea without associated malformations will be rarely diagnosed antenatally. In the case of the absence of an oesophageal fistula to the remaining airway a congenital high airway obstruction syndrome (CHAOS) ensues, leading to enlarged hyperechogenic lungs, dilated and fluid-filled trachea and bronchi and an absent tracheal flow during foetal breathing. Aetiology of TA is unknown, therapeutic options are limited thus making TA a usually fatal disorder.

Sonografische Auffälligkeiten des fetalen ZNS im Zweittrimesterscreening – Abklärung nach neuen Mutterschaftsrichtlinien

Malformations of the central nervous system are among the most frequent congenital anomalies. At best, a qualified and standardised screening of the foetal brain is possible between the 18th and the 22nd week. The newly decided modification of the maternity directives envisages an extended screening upon request. This extended screening refers to the central nervous system and the representation of the ventricles, the evaluation of the head shape and the cerebellum and the back. The examination of the foetal brain should be carried out in a structured way. Three axial planes, the transventricular, the transthalamic and the transcerebellar planes, suffice to represent and measure all structures which are of importance for the screening. In case of ventricular anomalies, anomalies of the head shape, anomalies of the cerebellum and irregularities of the dorsal skin outlined in the second screening a further diagnostic procedure should be initiated. This diagnostic work-up should include a detailed neurosonography, a diagnostic evaluation of the organs and eventually further examination in the form of a caryotyping, determination of the infectology or a foetal MRI. The present article offers an overview of possible CNS abnormalities which could be recognised during the second screening according to the extended maternity directives and describes which differential diagnostics should be considered. In detail, anomalies of the head size (microcephaly, macrocephaly), of the head size (brachycephaly, dolichocephaly, cavities of the cranium, banana sign, etc.,), ventricular abnormalities, anomalies of the cerebellum (cerebellum hypoplasia, abnormal cerebellum shape) and abnormalities of the intermediate line and the intracerebral space requirements are discussed.

Fetal Valproate Syndrome – Still a Problem Today!

Introduction Fetal exposition to valproate can lead to a cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. Case Report In this report we describe 2 cases of fetal valproate syndrome. In the first case, the gravida had a valproate medication before and during pregnancy with additional folic acid. She delivered a male premature infant at 25+2 weeks of gestation due to preterm labor and rupture of the membranes. Physical examination showed even in the premature infant typical signs of fetal valproate syndrome with trigonocephaly, epicanthal folds, broad root of the nose, low-set ears, thin upper lip and anteverted nares. In the second case, the gravida was under antiepileptic therapy with valproate and lamotrigine before and during pregnancy without any prophylaxis with folic acid. Sonographic examination during pregnancy diagnosed a spina bifida, Chiari II malformation and clubfeet. A female newborn was delivered at 39+4 weeks of gestation. Besides the prenatally detected anomalies, facial dysmorphism including microcephaly, low-set ears, thin upper lip and shallow philtrum were seen after birth. Conclusion Valproate, a widely used anticonvulsant medication, is known for its teratogenic effects. The risk of congenital anomalies is even higher in combination with other antiepileptic drugs. Therefore, the avoidance of valproate or at least supplementation with a high dose prophylactic folic acid before and during pregnancy is highly recommended for women with epilepsy.

Malignant extrarenal rhabdoid tumor: a case report

Abstract The fetal extrarenal rhabdoid tumor is a highly aggressive and rare neoplasm that mostly occurs in the first year of life. In this case, a remarkably enlarged right upper arm was diagnosed in a male fetus at 31+2 weeks of gestation. Because of a fast progressive tumor volume and signs of fetal distress, a cesarean section was performed at 34 weeks of gestation. The preterm baby showed a blue livid tumor reaching from the right elbow up to the shoulder that resulted in an extrarenal rhabdoid tumor on histopathologic analysis. A therapeutic trial with cyclophosphamide was not effective and the child died at the age of 26 days because of multi-organ failure.