Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy

In a pregnancy at risk for carbamoyl-phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.     

Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound.     

Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography

Harlequin fetus is a rare and mostly fatal form of congenital ichthyosis that can be diagnosed by fetal skin biopsy in patients with a family history of the disease. More recently DNA analysis of amniocentesis and chorion villus sampling materials have also been utilized. We report a case of prenatally diagnosed congenital ichthyosis with no previous family history. Diagnosis was mainly achieved by 3D and 4D ultrasonography findings such as diffuse scaling of the skin, digital contractures, flattened rudimentary external ear, nasal hypoplasia, everted eyelids, typical fish mouth appearance, macroglossia, and persistently open fetal mouth.     

Prenatal diagnosis of isolated foramen ovale obstruction. A report of two cases

Premature obstruction of the foramen ovale is a rare but serious clinical entity. Obstruction can be associated with right ventricular failure, fetal hydrops, tricuspid regurgitation, left heart obstructive defects and supraventricular tachycardia. In most cases, the diagnosis is made at the postmortem examination. The etiology is unknown. We discuss 2 prenatal cases with the sole diagnosis of ventricular asymmetry. The right ventricle was dilated and hypertrophic, and the foramen ovale ballooned into the left atrium without color Doppler detection of right-to-left flow. After delivery, the infants had no hydrops or symptoms of cardiac or respiratory distress. Echocardiography demonstrated a structurally normal heart with increased right ventricle dimensions until the 7th day of life. Delivery should be induced if possible in cases of foramen ovale obstruction with signs of cardiac decompensation.     

Prenatal diagnosis of carbamyl phosphate synthetase deficiency by fetal liver biopsy]

Carbamyl phosphate synthetase deficiency (CPSD) is one of the enzyme defects of the urea cycle and inherited as an autosomal recessive. A definitive enzymatic diagnosis of CPSD can be made by biochemical assay of liver biopsy material, but not of cultured fibroblasts. In pregnancy at risk for CPSD, prenatal diagnosis was attempted by fetal liver biopsy, performed at 22 weeks of gestation. CPS activity was present and a healthy baby was delivered at term. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.     

Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: report of 66 cases.

The potential use of fetal cells circulating in maternal blood for a non-invasive prenatal diagnosis has been widely described. Several authors have developed different methods for the enrichment of fetal cells from maternal peripheral blood. The aim of this study was to make a practical valuation of this new prenatal diagnosis technique, using those methods described as efficient and easy to carry out in a prenatal diagnosis unit. These methods consist of the double-density gradient and the positive selection by magnetic activated cell sorting (MACS) of the fetal erythroblasts, and the posterior study of the cells applying the FISH interphasic technique. Once the technique was ready, we obtained results from the study of 66 venous blood samples from women coming for prenatal diagnosis. Using a specific staining for fetal haemoglobin, fetal cells were identified in 63 cases. Fetal sex was well determined in 56 cases, 23 females and 33 males; in 7 cases the sex determination failed. All the aneuploidies found in a previous prenatal diagnosis were confirmed.     

Prenatal diagnosis of rare fetal anomalies--a case report

Hereby we present a case of a pregnancy in which careful dysmorphology of the fetus in subsequent sonographic evaluation resulted in detection of a very rare anomaly. It allowed explanation of the fetal phenotype, compared then with that of the newborn and estimation of genetic risk for the next pregnancies in this family.     

Prenatal diagnosis of fetal small bowel stenosis. A case report

The authors describe an own case of fetal jejunal atresia with its antenatal ultrasound findings. With regard to the reported case the diagnostic and differential-diagnostic considerations of this rare fetal malformation are discussed.     

Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age

Harlequin ichthyosis (HI) is an extremely severe and usually fatal congenital keratinization disorder whose responsible genes have not yet been identified. For prenatal diagnosis, the fetal skin biopsy is the only available method and has been usually performed at 21 to 22 weeks' estimated gestational age (wEGA). Hair canal keratinization is thought to occur around 15 wEGA prior to the interfollicular keratinization, and characteristic abnormalities of HI are known to be expressed more strongly in the hair canal. Thus, we expected the fetal skin specimen at 19 wEGA to have sufficient information for prenatal diagnosis. Fetal skin biopsy was undertaken from a fetus at risk at 19 wEGA. Electron microscopy demonstrated abnormal vacuoles in keratinized cells and malformation of lamellar granules in the hair canal. Clumps of aberrantly keratinized cells containing lipid droplets were seen in the amniotic fluid. The fetus was diagnosed as affected. The abortus at 21 wEGA demonstrated HI phenotype clinically. The present results indicate that the prenatal diagnosis of HI is possible at 19 wEGA, an earlier stage of gestation than previously reported, by the ultrastructural observation of the hair canal and the amniotic fluid cells, but not the interfollicular epidermis, of fetuses at risk.     

Prenatal diagnosis and outcome of congenital splenic cyst: report of two cases

Congenital splenic cyst (CSC) is a rare condition, and only a few cases with prenatal diagnosis and no associated malformation have been reported. Spontaneous regression is possible in case of mild CSC (under 40 mm), but enlargement or secondary complications may lead to surgical treatment. We report, herein, two cases of isolated mild CSC with complete spontaneous postnatal regression.     

Prenatal diagnosis of ventricular aneurysm: a report of two cases and a review

Ventricular aneurysms have rarely been reported prenatally. Their prognosis is variable depending on factors such as early detection, their relative size in comparison to the ventricular cavity, growth on follow-up, and signs of cardiac failure. In view of the fact that it may be useful to report on additional cases in order to make available further information on aetiology, prognosis and neonatal management, we hereby report on two cases of ventricular aneurysm with good mid-term prognosis. One case of apical aneurysm of the left ventricle was associated with a muscular ventricular septal defect, the features of which are compatible with a fetal myocardial infarction and ventricular septal rupture in absence of coronary artery anomalies as demonstrated by catheterisation. Another case of sub-tricuspidal aneurysm of the right ventricle associated with mitral prolapse appears to be a component of diffuse connective dysplasia. Despite the early gestational age at diagnosis, the large size of the aneurysm and the associated defect, both the infants were asymptomatic in infancy prompting a conservative management.     

Prenatal diagnosis of fetal tumors by ultrasonography

Fetal tumors lead to serious illness or even death in the fetal or neonatal period. Problems vary from severe hydrops to underdevelopment of fetal organs. In some instances a tumor may cause mechanical obstruction during the birth process. Polyhydramnios frequently develops. Adequate prenatal diagnosis is of utmost importance. Timely detection of the fetal tumor prevents traumatic birth and postnatal care and treatment can be scheduled. This report is a review of the relevant recent literature and the tumors detected in our ultrasound unit between 1982 and 1988. The ultrasonographic appearance, clinical course, and differential diagnosis of the tumors are discussed.     

Prenatal diagnosis of fetal cytomegalovirus infection.

Twelve fetuses were evaluated with a combination of ultrasonography, amniocentesis, and blood sampling for possible cytomegalovirus infection. In seven the mother had a documented primary cytomegalovirus infection. All seven women had normal ultrasonographic findings and one fetus was found to be infected. In the other five cases fetal cytomegalovirus infection was diagnosed in association with abnormal ultrasonographic findings. There was no history of maternal infection in the latter group. All positive and negative diagnoses were confirmed and none of the six infected fetuses survived. In this series, the most reliable parameters of infection were the isolation of the virus from amniotic fluid and elevations of total immunoglobulin M and gamma-glutamyl transpeptidase in fetal blood. In the majority of infected fetuses cytomegalovirus-specific immunoglobulin M was not detected in blood. Prenatal diagnosis of fetal cytomegalovirus infection is possible with a combination of amniocentesis and fetal blood sampling.     

Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries

An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management.ObjectiveTo investigate the accuracy of prenatal diagnosis for fetal omphalocele, we undertook a retrospective and consecutive analysis of our ultrasound database between January 1994 and December 2011.Materials and MethodsIn total, ultrasound (US) detected 52 fetuses with an omphalocele in utero.ResultsThe incidence of fetal omphalocele is estimated as 1:1249 (0.08%). We also compared the gestational age at US diagnosis between the two centuries. In the 20^th century, 22 cases of omphalocele were detected: four (18%) cases at first trimester, 17 (77%) cases at second trimester, and 1 (5%) case at third trimester. In the 21^st century, 30 cases of omphalocele were detected: 13 (43%) cases at first trimester, 15 (50%) cases at second trimester, and two (7%) cases at third trimester. The gestational age at diagnosis of omphalocele is significantly earlier in the 21^st century than in the last century.ConclusionWith the advancement and improvement in US equipment, the early detection of fetal omphalocele is feasible, which will substantially contribute to fetal wellbeing.     

Prenatal diagnosis of schizencephaly by fetal magnetic resonance imaging.

Schizencephaly is a neuronal migration anomaly characterized by gray matter lined clefts extending from the ventricle to the cortical surface leading to specific lesions, well demonstrated by imaging. The lips of the clefts can be fused or separated. Prognosis is related to the extend of the involved cortex. Both genetic and acquired factors can be responsible for this pathology. Three cases of antenatal diagnosed open schizencephaly are reported. Two cases are unilateral and one is bilateral. A cerebral anomaly has been detected in all cases by routine ultrasonography (US) revealing a ventricular dilatation with cortical associated abnormalities. Prenatal magnetic resonance imaging (MRI) permitted the diagnosis in the 3 cases. All cases had led to abortion because of the importance of the cortical defect. The aim of this report is to point out the importance of fetal MRI in the diagnosis of migration disorder and to discuss the medical implications. Indeed, MRI is better suited than US for the prenatal diagnosis of schizencephaly, being able to detect normal and abnormal brain cellular migration, especially with fast imaging (HASTE sequences). With its multiplanar imaging capability, MRI demonstrates the cleft extending from the pial surface to the ventricular ependyma and thus provides characteristic diagnosis of this disorder. Moreover, ventricular dilatation, a frequent anomaly detected by US should be completed with MRI in order to research a neuronal migration disorder.     

Bilateral diaphragmatic hernia followed by fetal ultrasonography. A report of two cases

Two cases of bilateral congenital diaphragmatic hernia (CDH) followed by fetal ultrasonography were described. Although many cases of CDH are diagnosed by fetal ultrasonography, it is difficult to diagnose bilateral CDH in utero, which is a relatively rare and fatal condition. Two fetuses were diagnosed as having left CDH associated with severe anomalies. However, a retrospective review of fetal ultrasonography indicated elevation of the liver in the right posterior chest. Both patients died shortly after surgical repair for left CDH despite the use of extracorporeal membrane oxygenation. Diagnosis of bilateral CDH by fetal ultrasonography and the evaluation of its prognosis were discussed.