Listeriosis: A cause of non-immune hydrops fetalis

A case of prenatally diagnosed non-immune hydrops fetalis, that was later shown to be caused by listeriosis, is presented, and the clinical course, as well as the appropriate diagnostic and therapeutic procedures are described. We conclude, that listeriosis should be excluded, whenever a non-immune hydrops fetalis is associated with septicemia, influenza-like illness and fever of unknown origin.     

In utero development of a mediastinal teratoma: A second-trimester event

Mediastinal teratomas have rarely been discovered during the prenatal period. When seen during the neonatal period, these tumours have caused respiratory distress or hydrops fetalis. We present the sonographic and pathological findings of a rapidly developing anterior mediastinal teratoma causing hydrops fetalis and in utero demise at 27 weeks' gestation.     

β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis

We describe a case of β-glucuronidase deficiency presenting as a non-immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post-abortion. In a second pregnancy, a normal β-glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.     

Non-immunological hydrops fetalis and intrapericardial teratoma: Case report and review

A large intrapericardial teratoma was found at necropsy in a 38−week stillborn fetus, in which prenatal diagnosis of hydrops fetalis and an ehogenic cardiac mass had been made. Clinical and pathological data are reported. In utero intrapericardial teratomata lead to different outcomes depending on whether fetal hydrops is associated. When generalized fetal hydrops is not present, the outcome is good, even in cases with large pericardial effusions. When generalized fetal hydrops occurs, it often results in a poor outcome. In our literature review, we have found eight perinatal deaths in nine similar cases reported.     

Parvovirus B19 infection in pregnancy: new insights and management

In this article, we review the virology, pathology, epidemiology and clinical spectrum of intrauterine human parvovirus B19 (B19V) infection, including intrauterine fetal death, non-immune hydrops fetalis, thrombocytopenia and neurological manifestations such as pediatric stroke and perivascular calcifications. In addition, we discuss the new insights into the neurodevelopmental outcome of intrauterine B19V infection. Current diagnosis and management of B19V infection is summarized, including a diagnostic and follow-up flowchart for practical clinical use. Copyright © 2011 John Wiley & Sons, Ltd.     

Thermocoagulation of fetal sacrococcygeal teratoma

Fetal sacrococcygeal teratoma can lead to a high output cardiac failure resulting in hydrops fetalis. One of the prenatal therapeutic options is to occlude the feeding vessels by radiofrequency ablation. We present a case of fetal sacrococcygeal teratoma diagnosed at 13 weeks of gestation. The tumour increased in size more than 100-fold over 5 weeks causing polyhydramnios and cardiac and placental enlargement. Thermocoagulation was performed at 18 weeks' gestation by passing an insulated electric wire through an 18-gauge needle placed close to the feeding vessels of the tumour at its neck. Blood supply to the tumour was successfully reduced. However, fetal death was diagnosed 2 days after the procedure. We speculate that it may be safer to limit the extent of coagulation in one attempt but to repeat the procedure at a later stage when necessary. Copyright © 2002 John Wiley & Sons, Ltd.     

Maternal serum biochemical markers in pregnancies with fetal parvovirus B19 infection

Hydrops fetalis and fetal death caused by fetal parovirus B19 infection have been reported to be associated with elevated maternal serum alpha-fetoprotein (AFP), based on a total of six cases. It has been suggested that the absence of AFP elevation may be reassuring. Maternal serum levels of the Down syndrome screening markers unconjugated oestriol and human chorionic gonadotropin in cases of fetal parvovirus infection have not been previously reported. We report four cases of hydrops fetalis and fetal death caused by fetal parvovirus infection, each with unremarkable second-trimester levels of AFP, unconjugated oestriol, and human chorionic gonadotropin.     

Pericardial teratoma complicated by hydrops: successful fetal therapy by thoracoamniotic shunting

Pericardial teratoma is a potentially curable lesion that may become life threatening when it induces mediastinal compression and fetal hydrops. So far, cases with fetal hydrops have been managed by elective delivery or pericardial needle decompression. We report a case in which pericardial teratoma resulted in fetal hydrops. Following transpleural needling of the fetal pericardium at 29 weeks and 6 days, pericardial effusion decreased but hydrops persisted, while major unilateral pleural effusion appeared. A thoracoamniotic shunt was placed at 30 weeks and 5 days. Hydrops resolved, although incompletely. The baby was delivered at 32 weeks and was operated upon on day 3. This observation suggests that fetal hydrops associated with pericardial teratoma may improve following thoracoamniotic shunting. Fetal therapy may limit the risks of respiratory distress arising from the combined effect of airways compression and lung immaturity. Copyright © 2003 John Wiley & Sons, Ltd.     

The prognostic factors in the prenatal diagnosis of the echogenic fetal lung

The prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high-resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non-immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.     

Multiple marker screen positivity in the presence of hydrops fetalis

Three cases of hydrops fetalis presented in the second trimester as screen-positive for Down syndrome using multiple maternal serum markers. One case was a karyotypically normal female; one case was a monosomy X (Turner syndrome); and one case was a trisomy 21 (Down syndrome). In each case, the maternal serum human chorionic gonadotrophin (hCG) was disproportionately elevated. These cases support the contention that hydrops fetalis of any aetiology may present as screen-positive when using multiple maternal serum markers for Down syndrome. Further cases will be necessary before it can be determined whether a disproportionately elevated hCG is predictive of hydrops.     

First-trimester prenatal diagnosis of severe alpha-thalassemia

By means of chorion biopsy together with restriction endonuclease analysis of fetal DNA, first trimester diagnoses were successfully made in 33 fetuses at risk for Bart's hydrops fetalis. Seven pregnancies with Hb H or hydrops fetalis were therapeutically terminated before 4 months of gestation. Of the 26 pregnancies intended to continue, 18 have come to term with normal deliveries; one with threatened abortion was terminated at the end of the first trimester and, seven are progresssing normally.     

Fetal bradycardia in the first trimester: an unusual presentation of atrial extrasystoles

We report a fetus with fetal bradycardia at 13 weeks of gestation secondary to atrial extrasystoles. The fetus subsequently developed paroxysmal supraventricular tachycardia and hydrops fetalis. The cardiac arrhythmia recovered spontaneously without any medical intervention. This case illustrates that atrial ectopic beats can present in the first trimester with fetal bradycardia. Rapidly evolving hydrops fetalis secondary to supraventricular tachycardia can develop, warranting close monitoring with weekly heart rate assessment. Fetal bradycardia secondary to atrial extrasystole should be differentiated from first trimester sinus bradycardia and those associated with major structural cardiac abnormality, which have a high fetal loss rate. Copyright © 2002 John Wiley & Sons, Ltd.     

Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis

In a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies.     

Ultrasonographic scanning of placental thickness and the prenatal diagnosis of homozygous alpha-thalassaemia 1 in the second trimester

In order to evaluate the association between placental thickness (PT) and fetal homozygous alpha-thalassaemia 1 before the appearance of classic ultrasound findings of haemoglobin (Hb) Bart's hydrops fetalis, a total of 473 pregnancies were collected. The control group included 422 normal pregnancies with a gestational age from 14 to 23 weeks and the study group included 51 affected fetuses in the same gestational period. Fetal biparietal diameter (BPD) and PT were measured by high-resolution ultrasound. PT was evaluated against BPD. In the control group, the PT generally increased in parallel with the advancement of gestational age. All PT measurements in the study group were above the mean PT of their respective gestational week in the control group. Forty-six (90 per cent) of the pregnancies in the study group had PT larger than the mean plus two standard deviations of the control group. This study suggests that ultrasound measurement of PT may be a useful aid in the prenatal diagnosis of Hb Bart's hydrops fetalis before its classic findings become apparent in the late second trimester or third trimester.     

Cystic hygromata in trisomy 18 and 21

Prenatal diagnosis of cystic hygromata by means of ultrasound examination is possible and highly accurate. Although this is usually associated with Turner's syndrome especially if there is co-existent hydrops fetalis we report three cases in which cystic hygromata were associated with trisomies; two cases of trisomy 21 and one of trisomy 18.     

Fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X)

Fetal blood sampling has been used in the genetic work-up of twin gestations for rapid karotyping. We present a case of twins which on ultrasound evaluation revealed hydrops fetalis in one twin and a normal second twin. Fetal blood sampling revealed the presence of mosaicism for 46,XY/45,X in both twins. HLA antigen testing showed the twins to be identical. The patient elected pregnancy termination. Blood chromosomal analysis after delivery revealed both twins to have 46,XY/45,X mosaicism, but the twin with signs of hydrops fetalis had tissue chromosomes of 45,X and the normal twin had tissue chromosomes of 46,XY. Amniotic fluid chromosomal analysis revealed 46,XY in twin A and 45,X in twin B. This represents a case of identical (monozygotic) twins with sex discordance. In this case, there was the probable occurrence of post-zygotic chromosomal non-disjunction leading to the discordancy of the sex in this set of twins. With the presence of vascular communication in monozygotic twins, there is the possibility of exchange of blood in monozygotic twins and the result of blood chimerism in twins.     

Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

Blood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG-Ia). A diagnosis of CDG-Ia was confirmed by enzyme analysis of cultured amniocytes. This is the first report of CDG-Ia diagnosed by serum analysis in a fetus. Previous reports have warned that diagnostic abnormalities do not appear in serum until several weeks after birth. The sensitivity of cordocentesis transferrin IEF is unknown but is less than 100% effective because cases have been diagnosed postnatally after normal prenatal or neonatal studies. Enzyme analysis or mutation analysis is required for diagnosis of congenital disorder of glycosylation (CDGs) regardless of whether a diagnostic transferrin pattern is identified prenatally. The analysis of a small sample of serum, from cordocentesis, performed to check for fetal anemia, simplified the investigation, diagnosis, and genetic counselling of a case of non-immune hydrops detected at 27 weeks' gestation. This might be a useful test for other cases in these circumstances, as fetal blood is usually collected to check for anemia. Copyright © 2006 John Wiley & Sons, Ltd.     

Intrapericardial teratoma with hydrops leading to in utero demise

We report a case of intrapericardial teratoma following in utero demise at 29 weeks with nonimmune hydrops. The diagnosis was strongly suggested by ultrasound findings and confirmed by fetopathology. The mechanism whereby intrapericardial teratomas may lead to hydrops and death is massive pericardial effusion responsible for compressive tamponade. When prenatal diagnosis is performed before this stage, in utero interventions can obtain decompression, and the birth can be planned with rapid and appropriate management of the neonate. Copyright © 2007 John Wiley & Sons, Ltd.     

DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis

We report on the prenatal diagnosis of congenital myotonic dystrophy in a case of nonimmune hydrops fetalis. DNA analysis of amniocytes revealed expansion of the trinucleotide (CTG) repeat within the myotonin PK gene, associated with myotonic dystrophy. The fetus was found to have approximately 1730 copies, while the normal population has between 5 and 27 copies, and minimally affected individuals have at least 50 copies.     

Radiographic,haematological, and biochemical findings in a fetus with Caffey disease

An early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and X-rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed us to find important biological abnormalities. The pregnancy was terminated after the rapid development of hydrops fetalis. The definitive diagnosis of Caffey disease was obtained by special X-ray and pathological study.