A. Brantberg

Surveillance and outcome of fetuses with gastroschisis

Infants with gastroschisis have a high survival rate. However, the rate (10–15%) of intrauterine fetal death (IUFD) is considerable, and the association with fetal distress is well known. The aim of this study was to describe the outcome of fetuses with a prenatal diagnosis of gastroschisis. The impact of correct prenatal diagnosis, surveillance and signs of complicating risk factors were evaluated.

Characteristics and outcome of 90 cases of fetal omphalocele

The aim of this study was to describe the outcome of a case series of fetuses with omphalocele.

Esophageal obstruction-prenatal detection rate and outcome.

Prenatal diagnosis of esophageal obstruction is believed to improve the outcome for the affected newborn. However, the prenatal detection rate is only 10–40%, the diagnosis is usually not made before the third trimester and the false‐positive rate has been high. This study investigated the prenatal detection rate and time of prenatal diagnosis at our center and its influence on outcome. In addition, incidence, detection rate and accuracy of the diagnosis in a large non‐selected population were determined.

Imperforate anus: a relatively common anomaly rarely diagnosed prenatally

Despite the relatively common occurrence of imperforate anus, prenatal diagnosis is rarely reported. In this study, we investigated the presence and diagnosis of imperforate anus along with strategies for improving prenatal diagnosis of the condition.

Severe intrauterine anemia: a new form of ɛγγδβ thalassemia presenting in utero in a Norwegian family

This report describes a type of ɛγγδβ-thalassemia due to a rare private deletion, detected early and successfully treated with intrauterine blood transfusions. Severe intrauterine anemia of unknown cause presents a diagnostic challenge. We describe a Norwegian case, managed successfully by intrauterine transfusions, that further investigations demonstrated to be due to a rare type of thalassemia. A deletion of the 5’ end of the β globin gene cluster was characterized, the breakpoints sequenced and a new type of ɛγγδβ thalassemia identified. This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population.

Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele

This study compares prenatal ultrasound examination and autopsy findings in fetuses and infants with gastroschisis and omphalocele.

Prenatal constriction of the ductus arteriosus following maternal diclofenac medication in the third trimester

We describe a case of a 21-year-old primigravida at 36 weeks’ gestation who was admitted to a local hospital because of abdominal pain. She was prescribed a total of six doses of diclofenac 50 mg over 2 days. One day later, there was difficulty registering the fetal heartbeats on cardiotocography. Ultrasound examination revealed a fetus with ascites and pathological flow over the tricuspid valve. The patient was referred to a tertiary centre for fetal medicine. Fetal echocardiography revealed, in addition to ascites and tricuspid regurgitation, a constricted ductus arteriosus, dilated right ventricle and reduced flow in the pulmonary artery. Immediate caesarean section resulted in an excellent neonatal outcome.

Re: Second-trimester intra-abdominal bowel dilation in fetuses with gastroschisis predicts neonatal bowel atresia.

It was with great interest that we read the article by Nick et al.1 in a recent issue of the Journal. Similar results were published in our article, ‘Surveillance and outcome of fetuses with gastroschisis’2, and we strongly support the repeat findings by Nick et al., that intra-abdominal bowel dilatation is associated with bowel obstruction. In our paper2, comprising 64 fetuses with a prenatal diagnosis of gastroschisis, five fetuses had intra-abdominal dilatation of the bowel and all had bowel obstruction. These findings were also discussed extensively and images shown during an oral presentation at the ISUOG World Congress in New York in 20023. In the years following our publication2, studying 30 additional fetuses with gastroschisis, we have found further evidence that intraabdominal bowel dilatation is a reliable marker for intestinal obstruction. Of these 30 fetuses, only one of those without intra-abdominal dilatation had bowel obstruction postnatally. Consequently, we rely on our ultrasound findings concerning the appearance of the fetal bowel when counseling the parents, and have done so for several years. In addition, the pediatric surgeons at our hospital are well aware of the reliability of these prenatal findings and use them to plan for the expected surgery. However, we have not found the outcome in terms of survival to be worse for the infants with bowel obstructions/atresias. The immediate morbidity in terms of hospitalization and time to full oral feeding is longer, but we have not observed any effect on the survival rate. In this context, we also want to emphasize the importance of delayed definitive bowel surgery following primary reduction en bloc in cases with massive peel and possible atresias, as we also discussed in our article2. In addition, it is important to note that a late developing intra-abdominal bowel dilatation may be associated with ‘closing gastroschisis’4, a rare, and if not handled correctly, fatal, complication.

OC064a: Poor outcome of fetuses with omphaloceles

Methods: In order to evaluate the long-term prognosis of fetal hyperechogenic kidneys, we conducted a prospective cohort study on 43 cases of prenatally detected isolated bilateral hyperechogenic kidneys and followed for 34 to 132 months. Results: There were 20 autosomal recessive polycystic kidney diseases (ARPKD), 8 autosomal dominant polycystic kidney diseases (ADPKD), 9 renal dysplasia and 6 cases of idiopathic hyperechogenicity. The definitive diagnosis could not be predicted from the prenatal sonographic pattern. The outcome of the whole group was the following: there were 10 terminations of pregnancy (TOP) because of severe oligohydramnios, 5 neonatal deaths, and 19 alive children; 14 of these latter had normal renal function at last examination. Among the 20 ARPKD, 10 fetuses underwent TOP, 4 newborns died, and 6 survived, of whom 2 were symptom free, 3 had hypertension and 1 had mild renal failure. Among 8 ADPKD, 3 underwent TOP and the other 5 survived, 4 of whom symptomfree and 1 with hypertension and mild renal failure. Among the 9 renal dysplasia, there were 6 TOP, 1 neonatal death, and the 2 survivors developed chronic renal failure. Among the 6 idiopathic hyperechogenicities, all children survived and were symptom free. None of the 14 fetuses with severe oligohydramnios and fetal kidney size larger than 4 SD survived, whereas 14 of the 17 fetuses with normal amniotic fluid and kidney size smaller than 4SD survived, 9 of whom were symptom free. Conclusion: ARPKD accounted for only half of fetal hyperechogenic kidneys, the precise etiology of which could not be ascertained prenatally in the absence of familial history. Irrespective of the causal disease, kidney size and amniotic fluid volume were the best predictors of outcome.

P18.07: Managing severe fetal anemia due to a new form of εγγδβ thalassemia in a Nordic family: intrauterine transfusions prior to final diagnosis

This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population. A hydropic fetus presented at 29 + 1 weeks with extensive ascites, pericardial fluid, enlarged heart and hyperkinetic circulation. Maximum velocity in the middle cerebral artery was 76 cm/s. The etiology of the fetal anemia was unknown. Both parents were of Nordic origin. The family history revealed that the father was born with anemia, in need of neonatal transfusions. No conclusive explanation for his anemia was found. His physical and neurological development was normal, although the microcytic anemia persisted. The family history made us consider a hereditary anemia in the fetus. The first cordocentesis revealed a microcytic anemia with Hb 5.8 g/dl, Hct 0.19, MCV 91 fl. Six intrauterine transfusions, until 34 completed weeks, were performed. The female infant was delivered by Cesarean section at 36 weeks. Her initial Hb level (transfused) was 14.1 g/dl; at one month of age her Hb was 8.8 g/dl, MCV 78 fl. She was transfused at this stage and again at about 2 months; since then her Hb has been stable at about 9 g/dl. She is healthy and her physical and neurological development has been normal. In the father, a deletion of the 5′ end of the β globin gene cluster was characterised, the breakpoints sequenced and a new type of eγγδβ thalassemia identified. Analysis of the daughter’s DNA by MPLA and Southern blotting confirmed that she had inherited the deletion chromosome from her father. The clinical presentation of eγγδβ thalassemia may vary but neonatal transfusions are frequently required due to marked neonatal anemia. A thorough family history may provide the suspicion of the potential diagnosis. Intrauterine transfusions should always be considered while further investigation takes place. A correct diagnosis provides a probable prognosis and also allows early prenatal diagnosis and optimal surveillance in future pregnancies.