Harlequin fetus and micromelia

A fetus was born prematurely after a 34-week pregnancy whose evolution was marked by the ultrasonic finding at 23 weeks of a considerable shortening of the long bones. At birth, the newborn infant bore the appearance of a harlequin fetus. There was no dwarfism, but the micromelia discovered in utero was confirmed both clinically and radiologically. Such global micromelia associated with this kind of pathology has never been described, not to mention witnessed, in utero and may be part of the fetal akinesia sequence phenotype.     

Prenatal pleural effusion associated with congenital pulmonary lymphangiectasia

A pleural effusion associated with congenital pulmonary lymphangiectasia was detected in a fetus in utero but was absent at the time of delivery. The pleural effusion was unilateral although the disease involved both lungs. In this case there was an association between polyhydramnios and congenital pulmonary lymphangiectasia.     

Diagnosis,surveillance, and treatment of the anemic fetus using middle cerebral artery peak systolic velocity measurement

The in utero course of the anemic fetus has improved dramatically, owing to early diagnosis and cordocentesis transfusion. In utero invasive procedures such as amnio- and cordocentesis have become important modalities in the evaluation and treatment of anemic fetuses. However, they carry risks for both the mother and fetus. A valid and sensitive noninvasive means of following the anemic fetus is the evaluation of changes in the middle cerebral artery peak systolic flow velocity (MCA-PSV). This is a sensitive tool for both the evaluation of fetal anemia and response to treatment. Intracerebral vessels respond earliest to the fetal anemic state, and are readily accessible for ultrasound examination. We describe the methodology and evolving clinical applications of MCA-PSV measurement in the fetus, through an overview of the literature describing the development and application of MCA-PSV measurement in fetuses at risk of fetal anemia of various immune and nonimmune etiologies, illustrated by index cases from our center. MCA-PSV measurement is essential in the diagnosis, evaluation, and management of cases of fetal anemia. The use of this modality lessens the need for invasive procedures. The method is readily accessible and should be integrated into the repertoire of all obstetric ultrasound centers. Copyright © 2006 John Wiley & Sons, Ltd.     

Amniotic fluid analysis in a fetus with laryngeal atresia

Complete laryngeal atresia is a rare congenital malformation that is known to cause hypertrophy of the fetal lung in utero. A fetus with laryngeal atresia was found to have markedly immature amniotic fluid lung maturity studies at term. Inappropriately low amniotic fluid lung maturity studies may be an important clue to the diagnosis of this condition.     

Prenatal diagnosis and management of fetal ovarian cysts

Congenital ovarian cysts are a pathological condition which can be diagnosed in utero by ultrasound. We report 14 consecutive diagnoses of fetal ovarian cysts, obtained in the second and third trimesters of pregnancy. Congenital ovarian cysts have almost invariably a good prognosis, and no change in the standard obstetrical management is required. However, the evolution of the disease in utero is extremely variable. The cyst may increase in size, decrease or even disappear, or undergo complications such as torsion and rupture, which may carry some risks to the fetus. When a fetal ovarian cyst is detected, serial ultrasound examinations should be performed. If one of the above complications is suspected, the option of prompt caesarean section should be considered.     

Changes in fetal heart rate pattern after intrauterine paracentesis in one twin with meconium peritonitis

We report a case of in utero paracentesis of ascites in a fetus with meconium peritonitis due to volvulus at 34 weeks which resulted in the correction of an abnormal fetal heart rate pattern and enabled vaginal delivery by preventing abdominal dystocia. The intrauterine intervention also helped to establish the diagnosis and potentially reduced the respiratory compromise after birth. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of fetal glioblastoma multiforme

Intracerebral tumours of the fetus are very rare conditions, most often presenting clinically as polyhydramnios and hydrocephalus. These conditions can be diagnosed with ultrasound and clearly differentiated from hydrocephalus and other intracranial lesions. The following report is of a case of an intracerebral tumour (glioblastoma multiforme) diagnosed at 33 weeks in utero using ultrasound. The prognosis for this condition is universally poor.     

Prenatal sonographic diagnosis of intracranial haemorrhage: Report of a case with a sinusoidal fetal heart rate tracing,and review of the literature

The sinusoidal fetal heart rate pattern has been described in association with severe fetal anaemia, with fetal hypoxaemia, and with the administration of parenteral narcotics. Here, we report a case of decreased fetal movement in which a sinusoidal tracing was recorded. The sonographic diagnosis of a massive fetal intracranial haemorrhage was made. A non-interventive approach was taken and the fetus died soon after in utero. We review 28 previous cases in which the prenatal sonographic diagnosis of fetal intracranial haemorrhage was made, including the underlying maternal and fetal factors and neonatal outcomes. We propose that the sinusoidal tracing in this case was due to the intracranial bleed and suggest that fetal intracranial haemorrhage be considered in the sonographic evaluation of the fetus with a sinusoidal pattern.     

Prenatal diagnosis of kyphomelic dysplasia

Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD. A review of 19 previously reported patients with KD is also presented. Copyright © 2001 John Wiley & Sons, Ltd.     

Doppler echocardiographic diagnosis of intrauterine closure of the ductus arteriosus

A case of in utero closure of the ductus arteriosus was detected by Doppler echocardio-graphy at 31 weeks of gestation. It presented as a non-hydropic distressed fetus with ultrasound detection of tricuspid regurgitation. Pulsed Doppler ultrasound showed markedly decreased blood flow through the tricuspid and pulmonary valves and absent blood flow at the ductus arteriosus. These, as well as the resultant increased right-to-left shunting across the foramen ovale, were reaffirmed by colour flow mapping.     

Prenatal diagnosis of congenital Chagas' disease (American trypanosomiasis)

The prenatal diagnosis of congenital transmission of Chagas' disease in a pregnant woman with the indeterminate form of the disease is reported. Sonography revealed fetal hydrops at 31 weeks' gestation. Anti-Trypanosoma cruzi IgM and IgG antibodies were negative in the fetal blood sampled by cordocentesis, but T. cruzi trypomastigotes were found in its buffy coat. Owing to anemia, in utero exchange transfusion was undertaken, but fetal demise ensued. Labor was induced and a stillborn infant weighing 2030 g was delivered. The pathological examination revealed placentitis and meningoencephalitis, myocarditis and splenitis in the stillborn fetus. Amastigotes were found in the myocardium, brain and placenta. Copyright © 2004 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.     

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.     

Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system,pyelectasis and orofacial clefts

In utero diagnosis of de novo distal 11q deletion associated with renal and orofacial malformations has not been previously described. We present a 35-year-old pregnant woman with prenatal sonographic findings of a unilateral duplex renal system, pyelectasis and orofacial clefts at 20 weeks' gestation. Both genetic amniocentesis and postnatal cytogenetic analysis revealed de novo 46,XX,del(11)(q23). After birth, the fetus manifested a dysmorphic phenotype correlated with del(11q) syndrome. Genetic marker analysis showed a paternally derived distal deletion of chromosome 11q and a breakpoint centromeric to D11S1341. The present case represents the earliest prenatal diagnosis of a duplex renal system, pyelectasis and an additional feature of orofacial clefts associated with distal 11q deletion. Prenatal sonographic detection of a duplex renal system, pyelectasis and orofacial clefts should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations. Copyright © 2001 John Wiley & Sons, Ltd.     

MR imaging of the fetal musculoskeletal system

Magnetic resonance imaging (MRI) appears to be increasingly used, in addition to standard ultrasonography for the diagnosis of abnormalities in utero. Previous studies have recently drawn attention to the technical refinement of MRI to visualize the fetal bones and muscles. Beyond commonly used T2-weighted MRI, echoplanar, thick-slab T2-weighted and dynamic sequences, and three-dimensional MRI techniques, are about to provide new imaging insights into the normal and the pathological musculoskeletal system of the fetus. This review emphasizes the potential significance of MRI in the visualization of the fetal musculoskeletal system. © 2012 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.     

Prognosis of fetuses with a cystic hygroma

This paper reports our experience with 55 fetuses identified in utero to have a cystic hygroma. The outcome of fetuses with an isolated cystic hygroma, cystic hygroma with non-immune hydrops, and cystic hygroma with multiple anomalies was evaluated. Approximately two-thirds of karyotypes were aneuploid, and a strong association of septation and aneuploidy existed. Only five cases, four of which had isolated hygromas, came to term and resulted in live births. Two of these involved small non-septated lesions which resolved in utero.     

The vanishing twin: An explanation for discordance between chorionic villus karyotype and fetal phenotype

One ‘erroneous’ diagnosis occurred in 200 first-trimester chorionic villus samples (CVS) analysed. In direct preparations following 24 h incubation as well as in long-term cultures, a 46.XX karyotype was observed in the villi (28 and 25 cells, respectively). At 20 weeks of gestation, labour was induced because of fetal death in utero. An autopsy performed on the fetus revealed a male phenotype. Placenta and fetal tissues were not submitted for cytogenetic studies. The discordant CVS karyotype (46,XX), in view of the male fetal phenotype, prompted further cytogenetic and molecular studies. Chromosome marker studies on the parents' blood and chorionic villi confirmed both maternal and paternal inheritance of chromosomes in the CVS. DNA studies on formalin-fixed skin using a Y-specific probe, DYZ1, confirmed the presence of a Y chromosome in the fetus. The most likely cause of the discrepant CVS karyotype is the presence of an undetected degenerating dizygotic twin.     

Cardiotocographic and sonographic findings in two cases of antenatally diagnosed intrauterine fetal brain death

Intrauterine fetal brain death is a rare cause of a fixed fetal heart rate pattern. Seven cases have been previously reported in the literature, but only two of them were diagnosed prenatally and all the newborns died soon after delivery. Two additional cases of antepartum diagnosis of intrauterine fetal brain death, managed expectantly, are reported. We had the unique opportunity to document progressive sonographic cerebral changes during the follow-up period, following the neurological event, while the fetus continued life and growth in utero. The cardiographic and sonographic findings suggesting intrauterine fetal brain death were a prolonged fixed fetal heart rate, even following a vibroacoustic and contraction stress test; an atonic fetus without breathing and body movement; and the appearance of hydramnios and the development of ventriculomegaly.     

Measurement of fetal urine production in mild infantile polycystic kidney disease—A case report

It is generally recognized that the sonographic findings of infantile polycystic kidney disease (IPKD) are bilaterally enlarged kidneys, oligohydramnios, an absent fetal bladder, and the typical kidney texture. Since there is a broad spectrum of renal compromise with IPKD, in utero diagnosis is thought to be limited to the severe forms. This paper reports a mild case of IPKD, where the in utero diagnosis was established by measuring fetal urine production and amniotic fluid volume serially during pregnancy, and by ultrasonographic examination of fetal kidneys.