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Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself.

To report on our experience with intraamniotic injection of ethacridine lactate (EL) for second trimester termination of pregnancy (TOP) and to compare its effectiveness with vaginal PGE1 in this setting.(a) Retrospective analysis of 54 intraamniotic EL-induced TOP. (b) Matched pair analysis of 50 second trimester TOP, using intraamniotic EL in group A (n=25) and vaginal PGE1 suppositories in group B (n=25).success rate, induction-delivery interval, analgesic use, drop in maternal hemoglobin, complications.(a) TOP with EL alone was successful in 50 cases (93%). Mean duration from instillation to delivery was 40.5 h (range 14-58, S.D.: +/-9.0). Mean analgesic need was low. Mean drop in hemoglobin was low (1.0 g/dl, S.D.: +/-1.1). (b) The matched pair analysis revealed a significantly shorter induction-delivery interval in the vaginal PGE1 group (mean 26.9 h, range 8-80, S.D.: +/-16.8 versus 41.0 h, range 24-55, S.D.: +/-7.3, p.05). There were no significant differences in analgesic use or drop in hemoglobin. In both groups one case of post partum hemorrhage occurred.Intraamniotic instillation of ethacridine lactate in second trimester TOP is safe, cheap and successful in the vast majority of cases. Disadvantages are the longer induction-delivery interval compared to modern prostaglandins and the invasive mode of application. However, by the use of EL the side effects of repeated prostaglandin application can be avoided as well as multiple vaginal examinations. Furthermore, the time of delivery can be predicted in a narrower interval.

Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and revealed other malformations (spina bifida occulta, anal atresia, tracheo-oesophageal fistula, brachydactylia) resulting in the diagnosis of VACTERL association. The prenatal diagnostician should seek histological examination firstly to confirm his findings and secondly to avoid missing associations and inherited malformations.

Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder.

The objective was to evaluate early cardiac biometry in fetuses with structural cardiac defects between 10 and 17 weeks of gestation using our normative data about fetal heart biometry. A retrospective case series, patients were selected from all cases with congenital heart disease diagnosed between 10 and 17 weeks of gestation in our prenatal unit between 1999 and 2000. A schematic sonographic examination, including nuchal translucency (NT) thickness measurements, was performed and was followed by fetal Doppler echocardiography. The transversal heart diameter, both ventricular dimensions, heart area, heart circumference, thoracic diameter, thoracic circumference, thoracic area, pulmonary trunk diameter and aortic diameter were measured and the cardiothoracic ratios were calculated. Doppler evaluation of the umbilical arteries, ductus venosus and umbilical vein was performed. Fetal karyotyping was obtained by amniocentesis or chorionic villous sampling. During the study period, 31 cases of congenital heart disease between 10 and 17 weeks of gestation were diagnosed. Of these, two fetuses presented with ectopia cordis and six with insufficient cardiac biometric measurements. In the remaining 23 fetuses, different complex abnormalities with a high rate of chromosomal abnormalities (91%) were present. Fetal heart biometry was normal in 22% and abnormal in 78%. NT thickness measurements were performed before 14 weeks of gestation and ten of 12 fetuses (83%) presented with an increased NT. Both fetuses with normal NT showed an abnormal fetal heart biometry. Venous Doppler evaluation was performed in 22 cases and 12 fetuses (55%) demonstrated an abnormal venous Doppler. There were ten fetuses (45%) with normal venous Doppler; in seven of these cases, fetal heart biometry was partly abnormal. This study shows the feasibility of first and early second trimesters' fetal echocardiography and the applicability of cardiac biometry in these instances. In this context, early fetal heart biometry and NT thickness measurements may be complementary methods for the prenatal diagnosis of some major congenital heart defects. In early pregnancy, some cardiac defects like tricuspid valve dysplasia, coarctation of the aorta, aortic stenosis, tetralogy of Fallot or pulmonary stenosis may already show similar changes in the relation of the diameters of the fetal heart and great arteries, as seen in the second trimester. Therefore, evaluating the different cardiac ratios may have a high diagnostic value in early pregnancy.

Anfang der 70er Jahre gelang erstmals die sonographische Darstellung der Ovarien (Kratochwil 1969; Kratochwil et al. 1972) mit ihren zyklusabhangigen Veranderungen. Die Kombination der in den 80er Jahren entwickelten Vaginalsonden (Fleichtinger u. Kemeter 1986) mit hochauflosenden Realtime-Ultraschallgeraten ermoglicht nicht nur eine differenzierte Darstellung des inneren Genitales, sondern auch eine genaue Beobachtung der zyklischen und damit funktionellen Veranderungen an Ovarien (Hansmann et al. 1985; Queenan et al. 1980; Renaud et al. 1980) und Endometrium (Bakos et al. 1993; Fleischer 1990; Gonen et al. 1991; Nakano et al. 1982). Seit einigen Jahren kann durch den Einsatz des gepulsten Dopplers zusatzlich die uterine und ovarielle Perfusion als weiteres Kriterium einer Funktionsdiagnostik betrachtet werden (Goswami et al. 1988; Kupesic u. Kurjak 1993; Steer et al. 1990). Erganzend wird durch die Hysterosalpingokontrastsonographie eine diagnostische Lucke bezuglich der normalerweise sonographisch nicht darstellbaren Tuben geschlossen (Degenhardt 1991; Deichert et al. 1990). In der Reproduktionsmedizin ist die transvaginale Sonographie als Standardmethode etabliert, die einerseits eine nichtinvasive Organdiagnostik ermoglicht, z. B. den Nachweis von Hydrosalpingen, Uterusanomalien, Synechien oder polyzystischen Ovarien; andererseits konnen auch funktionelle Sterilitatsursachen durch ein Zyklusmonitoring erkannt werden. In der Sterilitatstherapie, insbesondere wahrend einer ovariellen Stimulationsbehandlung, erlaubt die sonographische Uberwachung der Follikulogenese nicht nur eine Bestimmung des Konzeptionsoptimums, sondern auch eine Abschatzung des Mehrlingsrisikos und der Gefahr einer ovariellen Uberstimulation und tragt so zur Senkung des Therapierisikos bei. Die Einfuhrung der transvaginalen Sonographie zur Follikelpunktion im Rahmen der extrakorporalen Befruchtung erbrachte nicht nur eine wesentliche Vereinfachung des Eingriffs, sondern auch eine erhebliche Kostenersparnis.

Purpose: To assess the accuracy of fetal echocardiography in the diagnosis of cardiosplenic syndromes. Methods: Retrospective survey of 27 fetuses with the pre- or postnatal diagnosis of cardiosplenic syndromes in our database over a period of 10 years. Results: In 24 out of 27 fetuses, the diagnosis of cardiosplenic syndrome was confirmed postpartum. In the remainder, two cases of situs inversus totalis with heart block and multiple cardiac malformations, but no evidence of heterotaxy were diagnosed at autopsy or after birth. In one fetus with situs ambiguus, dextrocardia, bradyarrhythmia and transposition of great arteries (TGA) no autopsy was performed after termination of pregnancy. In 18 fetuses, left atrial isomerism were prenatally diagnosed and confirmed at autopsy or postpartum. Main echocardiographic features were azygos continuation of interrupted inferior caval vein (15), complete atrioventricular septal defect (CAVSD) (11), persistent bradyarrhythmia (11), pulmonary stenosis (PS) (9), ventricular septal defect (VSD) (8), fetal hydrops (8) and dextrocardia (5). Other associated cardiac malformations were l-TGA (2), double outlet right ventricle (DORV) (3), hypoplastic left ventricle (3), and partial/total anomalous venous connection (1/1). Ten pregnancies were terminated, two fetuses demised in utero, six children survived. In six fetuses, right atrial isomerism was prenatally diagnosed and confirmed postpartum. Echocardiographic features were CAVSD (4), dextrocardia (4), PS (2), l-TGA (1), azygos continuation of interrupted inferior caval vein (1), fetal hydrops (1), DORV (1) and bradyarrhythmia with cardiomegaly (1). One pregnancy was terminated, two fetuses demised within 10 days postpartum, three children survived. Conclusion: A combination of CAVSD, first and early second trimester persistent bradyarrhythmia and/or azygos continuation of interrupted inferior caval vein, and/or visceral situs ambiguus should suggest specific diagnosis of cardiosplenic syndrome. The correct diagnosis made in utero allows for maternal counseling and transfer to an appropriate facility prior to delivery for corrective surgery.

Objective: To compare singleton nomograms of the uterine circulation with previously established twin nomograms in the prediction of hypertensive disorders, small-for-gestational age (SGA) and birth weight discordance >20%. Methods: This was an analysis of maternal and perinatal data obtained from 256 diamniotic–dichorionic twin pregnancies. The uterine artery resistance and pulsatility index were calculated as a mean from both sides and the presence and absence of notching was recorded. Cut-off levels for abnormal flow parameters were the 95th centile of reference ranges using singleton and twin nomograms. Results: As mean uterine artery indices are lower in twin gestation, a higher number of patients (n = 73; 28.5%) was screen positive according to twin reference values when compared to those of singletons (n = 51; 19.9%). However, singleton reference ranges or recording of notches only proved to be more efficient than twin reference ranges to correctly predict SGA (17.6, 19, 13.7%), birth weight discordance >20% (30.6, 37.5, 23.9%), and hypertensive disorders (23.5, 21.4, 16.4%), respectively. Compared to singleton nomograms of uterine artery Doppler, twin nomograms had higher sensitivities, lower specific and positive predictive values, but equal negative predictive value to comprise adverse pregnancy outcomes. Conclusion: For routine clinical practice, it seems justified to use singleton nomograms to assess uterine circulation in twin gestation. However, as the negative predictive value of uterine Doppler studies is slightly lower when compared to singletons, maternal and fetal complications might occur despite normal uterine waveforms.