R. Bollmann

Associated Malformations and Chromosomal Defects in Congenital Diaphragmatic Hernia

In order to determine the frequency of associated malformations and chromosomal defects in patients with congenital diaphragmatic hernia (CDH) our experiences with CDH during the last 8 years (1985-1993) were reviewed. During the study period, 33 fetuses (prenatal group) with CDH were examined at our level III ultrasound department. In the same period 11 neonates (postnatal group) were admitted to our pediatric surgical unit after postnatal diagnosis of a CDH. Those cases had not been suspicious for CDH during prenatal level I scan. In 24 (72.7%) of the cases with CDH seen prenatally, at least one or more extradiaphragmatic malformations could be detected. Most of them affected the cardiovascular, skeletal, genitourinary and nervous system. Six (18.1%) fetuses had chromosomal abnormalities, especially trisomy 18. In contrast to these findings just 4 of the 11 babies (36.3%) seen postnatally had associated malformations and all of them had a normal chromosome set. Survival rate of fetuses with CDH and associated anomalies (7.1%) was poor, in contrast to those with an isolated CDH (43.7%). Prenatal ultrasound investigations being suspect for CDH should encourage the clinician to make further diagnostical efforts. This includes detailed ultrasound examination and cytogenetic analysis. Associated malformations as well as chromosomal defects are often present in affected patients.

Outcome of 60 neonates who had ARED flow prenatally compared with a matched control group of appropriate‐for‐gestational age preterm neonates

To describe the course and outcome of fetuses with absent or reversed end‐diastolic (ARED) flow in the umbilical artery (UA) and to examine the influence of prematurity according to gestational age at delivery.

Fetal Cardiomegaly: Echocardiographic Findings and Outcome in 19 Cases

The echocardiographic findings and clinical courses in 19 fetuses with marked cardiomegaly [heart length, width, area, cardiothoracic ratio, heart/thoracic area (CTA) ratio > 2 SD] were reviewed. An abnormal heart was the reason for referral in 16 cases of 19 (84.2%). The mean gestational age was 31.5 weeks at detection. Intracardiac hemodynamics were studied using pulsed, color, and M-Mode color Doppler. Despite the heterogeneous etiology of marked cardiomegaly (5 Ebsteins anomalies, 5 tricuspid valve dysplasias, 3 dilatative cardiomyopathies and 6 miscellaneous) a holosystolic tricuspid regurgitation with right atrial enlargement was found in 17 of the 19 cases (89.4%) as a common pathogenetic feature. A hydrops was found in 10 cases (52.6%). Besides 1 elective legal abortion, a high mortality rate of 83.3% was observed in the group followed up (6 intrauterine and 9 neonatal deaths). Among the cardiac measurements the CTA ratio seemed to correlate with fetal outcome, since all three survivors had the lowest values and all fetuses with CTA ratio > 0.6 showed a lung hypoplasia as a sequel of compression by cardiac enlargement. The presence or the development of hydrops, an obstruction of the right ventricular outflow tract, and the lung hypoplasia could be considered as signs of poor prognosis. A reliable differentiation between a patent pulmonary valve, pulmonary stenosis and pulmonary atresia in severe tricuspid regurgitation using modern Doppler means is difficult as seen in our studied group and in the literature.(ABSTRACT TRUNCATED AT 250 WORDS)

PRENATAL DIAGNOSIS OF LARYNGEAL ATRESIA IN TWO CASES OF CONGENITAL HIGH AIRWAY OBSTRUCTION SYNDROME (CHAOS)

Complete occlusion of the upper airways is known to cause secondary morphological changes, including bilaterally enlarged hyperechogenic lungs, dilated trachea, and hydrops. Prenatal diagnosis of upper airway obstruction has been described in several cases. In these reports, the diagnosis was primarily attributed to indirect signs, and the authors were in doubt as to whether the location of the obstructed area (larynx, glottis or trachea) could be precisely visualized by ultrasound. In this paper two cases are reported presenting the features of congenital high airway obstruction syndrome (CHAOS) diagnosed at the 22nd week of gestation. In both cases, the upper neck was perfectly visualized in a coronal plane. At the onset of fetal breathing movements, the stenotic larynx remained in a closed position. By positioning a colour signal on the fluid‐filled dilated trachea, we noticed absence of flow throughout the onset of breathing activity. We conclude that the atretic area must be situated at the level of the larynx. Because of the poor prognosis of laryngeal stenosis and the presence of associated anomalies, both pregnancies were terminated in the 23rd week. This report shows that the application of colour and spectral Doppler may be helpful in the differential diagnosis of fetuses with CHAOS.

Correlation of Prenatal Ultrasound Diagnosis and Morphological Findings of Fetal Autopsy

The findings of prenatal ultrasound diagnosis were compared with the autopsy findings in 183 fetuses (between the 14th and 24th week of gestation), aborted for fetal malformations in the period from 1995 to 1997. In these 183 cases, the primary diagnosis showed 50 central nervous system anomalies, 48 cardiovascular system anomalies, 42 genitourinary system anomalies, 18 respiratory system anomalies, 8 skeleton system anomalies, 6 gastrointestinal system anomalies and 11 other abnormalities. Of the total number of cases, 41% had multiple malformations. In 144 cases (78%), the prenatal diagnosis was confirmed by autopsy, in 36 cases (20%) the prenatal diagnosis was confirmed with additional significant pathology, and in only 3 cases (2%) the prenatally detected malformation was not confirmed by pathological examination. Autopsy remains an important component of the evaluation of fetal losses after induced abortion.

Beckwith-Wiedemann syndrome: difficulties with prenatal diagnosis

Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.

Prenatal diagnosis of congenital varicella syndrome and detection of varicella-zoster virus in the fetus: a case report.

Varicella syndrome (VS) specific malformations were sonographically seen at 22 weeks and 3 days of gestation. Fetal infection was demonstrated by detection of varicella‐zoster virus (VZV) DNA in fetal blood and amniotic fluid by polymerase chain reaction (PCR). Following therapeutic abortion, fetal infection was confirmed by detection of VZV DNA in several fetal tissues and placenta, and by histopathological findings like miliary calcified necroses in fetal organs. Copyright

Does fetal tracheal fluid flow during fetal breathing movements change before the onset of labour

Objective To examine changes in intra‐tracheal fluid flow parameters during fetal breathing movements throughout the second half of pregnancy in the normally developing human fetus.

Prenatal Diagnosis of Congenital Neuroblastoma

Objective: Advances in prenatal diagnostics during the last 10 years have enabled the examiner to detect even rare fetal disorders such as fetal tumours. Congenital neuroblastoma is the most frequent solid neoplasm in infancy, with a retroperitoneal cystic or solid mass being a sonographic sign of the conditions. Methods: We present 4 cases of neuroblastoma showing suspicious prenatal ultrasound findings. The investigation comprises detection during pregnancy, typical sonographic signs, as well as the postnatal outcome. In addition, a review of the literature is undertaken with a focus on prenatal sonographic signs of congenital neuroblastomas. Results: In all 4 cases, a cystic tumour was detected during the 3rd trimester of pregnancy by means of B-mode sonography. One boy died of disseminated metastases at the age of 26 months. The other 3 survived after surgery and have remained healthy. Conclusions: The detection of a cystic suprarenal mass is suspicious of a congenital neuroblastoma. The delivery should take place at a perinatal centre.

Angiomyxoma of the Umbilical Cord in One Twin with Cystic Degeneration of Wharton's Jelly. A Case Report

We report the prenatal diagnosis of an angiomyxoma of the umbilical cord in a female fetus of a dizygotic twin pregnancy. The pregnant woman was hospitalized at 18 weeks for exclusion of a suspected exomphalos. Using high-resolution ultrasound and color doppler, the umbilical tumor (8 x 5 x 4 cm) was suspected to be an angiomyxoma without malformations in the fetus. Neither chromosomal aberrations nor elevated alphafetoprotein were found after amniocentesis. Serial examinations showed an increase in the size of the cystic mass without deterioration of the fetal condition. Macroscopical and microscopical examinations of the tumor performed after delivery revealed an angiomyxoma with cystic degeneration of Whartons jelly. Tumors of the umbilical cord are rare anomalies and should be considered when using prenatal ultrasound for detection of cystic lesions.