MR autopsy in fetuses.

OBJECTIVE: The purpose of this study was to determine whether postmortem magnetic resonance imaging (MR autopsy) could serve as an alternative to necropsy of fetuses. The value of MR autopsy in the validation of the obstetric management and in risk counseling concerning future pregnancies is discussed. METHODS: 10 consecutive, malformed fetuses were examined by postmortem MRI within 24 h of delivery. Prenatal ultrasound (US) was performed in all fetuses. Complete necropsy served as gold standard. RESULTS: MR autopsy confirmed every US diagnosis responsible for termination. All MRI findings were confirmed by necropsy. In two fetuses, necropsy gave additional information relevant for risk counseling. Histologic examination corrected the diagnosis in one case. CONCLUSIONS: MR autopsy provides valuable information previously only available from necropsy. In parents who refuse perinatal necropsy, the information obtained by MR autopsy can be used to validate obstetric management and to evaluate the risk for future pregnancies. Necropsy however remains the gold standard.     

Prenatal diagnosis of mosaic trisomy 9

Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally.     

Morphologische Befunde nach pränataler Ultraschalldiagnose

The results of prenatal ultrasound diagnosis are compared with the autopsy findings in 334 fetuses (15 weeks of gestation) after induced abortion for fetal abnormalities. In 57% of cases the ultrasound diagnosis was confirmed and found to be complete; in 33% the diagnosis was confirmed but autopsy revealed additional significant pathological features and in about 10% the prenatal ultrasound diagnosis was not confirmed by morphological examination of the fetus. Autopsy examination remains an important component of the evaluation of fetal losses after induced abortion.     

Techniques for the routine on-line processing of the fetal electrocardiogram

In order to routinely monitor the fetal electrocardiogram (FECG), during labor, in an on-line real-time situation, the following processes need to be undertaken: The FECG signal must be recovered from noise. The recovered signal or waveform must be measured with a high degree of precision in order to generate the timing intervals, areas and parameters that are of interest to the clinician. The FECG and measured parameters must be presented to the clinician in a meaningful and simple format. Control of the machine and its processing should be a user friendly operation. In the current work, a system is described that uses digital filtering to recover the FECG waveform from low frequency biological noise and associated artifacts. A linear model of the FECG waveform is used to evaluate some 18 different timing intervals of the FECG. The enhanced waveform and accompanying parameters are displayed upon an intelligent graphics terminal to achieve a user friendly operation of the system by clinical staff.     

Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy

The Jarcho-Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho-Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X-ray exploration, high-resolution spiral computed tomography and autopsy confirmed the diagnosis.     

Fetal cystic hygroma colli: antenatal diagnosis, significance, and management

Twenty-four cases of fetal cystic hygroma colli were diagnosed by ultrasound. In two patients, the diagnosis was not confirmed at autopsy. Ten of these were cases of Turner's syndrome, one was a case of Turner's mosaicism, three had other aneuploidies, four had normal chromosomes, and six had a failed chromosome culture. The diagnosis, management, and future counseling of these patients are discussed.     

Holoprosencephaly: prenatal diagnosis by sonography and magnetic resonance imaging

Magnetic resonance (MR) imaging was performed on two women at the 33rd and 34th pregnancy week, respectively, after ultrasonographic detection of a brain malformation. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of holoprosencephaly, improving the image quality and offering additional information in such cases of difficult differential fetal diagnosis. Holoprosencephaly was finally confirmed by neonatal US and autopsy (case 1), US, CT and MR (case 2).     

Fetal echocardiographic findings in right pulmonary artery to left atrium communication: a case report and review of the literature

Right pulmonary artery to left atrium communication (RPALA com) is a fatal congenital heart disease with right-to-left shunting. We present a rare case of RPALA com that was prenatally diagnosed and confirmed by autopsy. We focus on some unique echocardiographic findings for prenatal diagnosis of RPALA com by reviewing our case and the literature. Asymmetric cardiomegaly with a pear sign and dilatation of the pulmonary artery might be useful for screening tests. A larger stalk with the pear sign, high-velocity of shunt flow, and absence of a dilated pulmonary vein might support the prenatal diagnosis of RPALA com.     

The relationship between intrapartum fetal heart rate disturbances, electrocardiographic changes and umbilical venous troponin-I (T-I)

OBJECTIVE: To analyse the relationship between intrapartum fetal heart rate disturbances and electrocardiographic changes and umbilical venous troponin-I (T-I), concentrations as well. MATERIAL AND METHODS: 14 fetuses were continuously surveyed by CTG and ECG recordings in the first and second stage of labor, using STAN S-21 analyser. After birth, umbilical venous blood samples were collected for determination of acid-base balance, base excess and troponin-I concentrations. RESULTS: From among monitored fetuses, in 8 cases the CTG and FECG patterns were correct. Vaginally delivered neonates were born in good clinical status, with normal acid-base balance, base excess and T-I < 0.3 ng/ml. In 3 cases abnormal CTG patterns were observed with early decelerations but FECG patterns were correct. Vaginally delivered neonates were born in good clinical status, with normal acid-base balance, base excess and T-I < 0.3 ng/ml. In 2 cases abnormal CTG patterns were observed with variable decelerations but FECG patterns were correct. Vaginally delivered neonates were born in good clinical status, with normal acid-base balance, base excess and T-I < 0.3 ng/ml. In one case abnormal CTG pattern were observed with late decelerations but FECG patterns was correct. The pregnancy was terminated by caesarean section because of fetal distress. The neonate was born in good clinical status with normal acid-base balance and base excess but T-I concentration was increased (1.5 ng/ml).     

Fetal cystic hygroma: prenatal diagnosis and management

Seventeen cases of fetal cystic hygroma detected during ultrasound examination are reported. In nine instances, associated abnormalities were recognized, such as fetal hydrops and a two-vessel cord. All diagnoses were confirmed at autopsy. Karyotyping revealed normal findings in six cases, Turner's syndrome in eight cases, and Edwards' syndrome in one case; culture failure occurred in the remaining two cases. An ultrasound diagnosis of cystic hygroma should be followed by a careful search for other anomalies and by fetal karyotyping. Afterward, genetic counseling is indicated.     

Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies

OBJECTIVE: To compare antenatal diagnoses with autopsy findings in pregnancies terminated after ultrasound detection of fetal anomalies. A second aim was to study the quality of antenatal fetal diagnosis over time. DESIGN: Retrospective, multicenter study over two consecutive six-year periods in Uppsala and Stockholm. SETTING: Cases were identified through fetal autopsy reports. SUBJECTS: Three hundred and twenty-eight fetuses from pregnancies terminated between 1992 and 2003 because of ultrasonographically diagnosed anomalies. MAIN OUTCOME MEASURES: The findings at the last ultrasound examination were compared with the autopsy reports. RESULTS: In 299 cases (91.2%) ultrasound findings either exactly matched or were essentially similar to the autopsy findings. In 23 cases (7%) ultrasound findings were not confirmed at autopsy, but the postnatal findings were at least as severe as the antenatal ones. In six cases (1.8%) termination was performed for an anomaly which proved to be less severe than was predicted by ultrasound. The number of such cases was the same in both six-year periods, while the total number of cases increased from 113 in the first to 215 in the second period. Fetal examination provided further diagnostic information in 47% of the cases. In 10% a syndrome was disclosed. CONCLUSION: Termination of pregnancy was not always based on a correct antenatal diagnosis. All fetuses but one from terminated pregnancies had evident anomalies. In six cases (1.8%) the decision to terminate was based on suboptimal prognostic and diagnostic information. Fetal autopsy by an experienced perinatal pathologist is essential to provide a definitive diagnosis.     

Intrapartum fetal monitoring by electrocardiography

To study the diagnostic values of intrapartum fetal electrocardiography (FECG) and cardiotocography (CTG), 68 patients in labor were monitored at random. One-min Apgar score was chosen as the gold standard. The specificity (87.1%) and accuracy (86.8%) of FECG were found better than those of CTG (54.5% and 57.4% respectively). Fetal hypoxia and acidosis was firstly manifested by shortened P-R interval, FHR deceleration and increase in the T wave amplitude. It suggested that FECG can be a reliable diagnostic method following CTG screening.     

A case of single umbilical artery with various fetal anomalies: correlations between prenatal ultrasonographic diagnosis and autopsy

We report a case of a single umbilical artery with various fetal anomalies, and a comparative study between prenatal ultrasonographic diagnosis and autopsy was done. The prenatal ultrasonographic diagnosis included, atrial septal defect (ASD), ventricular septal defect (VSD), mitral atresia or stenosis and a single great vessel. At autopsy, ASD, VSD, mitral atresia, overriding aorta and pulmonary atresia were evident. In case of other anomalies, the findings in the prenatal diagnosis and at autopsy were encephalocele, adrenal hypoplasia and a single umbilical artery. The ultrasonic detection of these anomalies is discussed and the limitations of this diagnostic method are given attention.     

Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions

We evaluated the correlation between prenatal diagnosis by ultrasound and autopsy findings, based on 52 second-trimester pregnancies terminated due to fetal malformations or chromosome aberrations diagnosed at a gestational age of 12-25 weeks. In 24 pregnancies, there was full agreement between ultrasound and autopsy. In 23 fetuses, the main diagnosis was confirmed and additional or more specific findings were observed on autopsy. In five fetuses, there were considerable differences. Discrepancies between ultrasound and autopsy findings were mainly anomalies undetectable by ultrasound and thus expected; however, about one-third of the discrepancies were not expected, representing findings that were 'missed' at ultrasound. The main ultrasound diagnoses were confirmed in the majority of the pregnancies, but the additional information obtained at autopsy in more than half of the fetuses clearly shows the value and benefit of postmortem fetal examination following termination of a pregnancy.     

Potter sequence complicated by congenital cystic lesion of the bladder

We report a case complicated by oligohydramnios, pulmonary hypoplasia, bilateral renal dysplasia, and cystic lesion of the bladder. He was clinically compatible with Potter sequence. Congenital cystic bladder is the rarest form of the bladder. We can find no report of Potter sequence complicated by cystic lesion of the bladder. This lesion was similar to multilocular bladder. The diagnosis was confirmed it by autopsy, magnetic resonance imaging, and urography after his death.     

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings.

OBJECTIVES: To present a comprehensive analysis of autopsy findings in 206 fetuses referred to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final diagnosis, which is essential for counseling regarding the risk of recurrence. We also compared the autopsy findings with prenatal ultrasound findings to evaluate the potential benefit of fetal autopsy in fetuses terminated after prenatal diagnosis of malformations. STUDY DESIGN: Retrospective review of patient records in a tertiary referral genetic center in North India during 5-year period (April 2000-March 2005). This includes 206 fetuses, 138 terminated after detecting an anomaly in ultrasonogram and 68 spontaneous fetal losses. In all cases, fetal autopsy was carried out and complimented by radiography, karyotype wherever possible and histopathological examination wherever necessary. In fetuses with prenatally diagnosed malformations, ultrasound findings were compared with autopsy findings. RESULTS: Fetal autopsy was able to provide a definite final diagnosis in 59% (122/206) cases. Fetal autopsy confirmed the ultrasound findings in all cases but two. Moreover, autopsy provided additional findings in 77 cases and of these, 24 cases had a significant change of recurrence risk. CONCLUSION: This study confirms the utility of fetal autopsy in identifying the cause of fetal loss, which will help in the genetic counseling of the couple. In cases with prenatally diagnosed anomalies, the new information from fetal autopsy changes the predicted probability of recurrence in 18% cases. Even though the prenatal ultrasonogram reasonably predicts the malformations, fetal autopsy gives significant additional malformations in one-third of the cases and is essential for genetic counseling.     

Congenital erythroleukemia in a neonate with severe hypoxic ischemic encephalopathy.

We report a case of a neonate who presented with hypoxic ischemic encephalopathy, persistent hypoglycemia and hypotension, intractable metabolic acidosis, renal failure and a coagulopathy but who, at autopsy, was found to have massive infiltration of nonhematopoietic tissues with blasts. The diagnosis of congenital erythroleukemia was confirmed by the detection of glycophorin A, a major erythrocyte membrane protein, on the surface of the blasts. The clinical presentation and course of the case described here have not previously been reported for this extremely rare condition.     

Prenatal diagnosis of a partial trisomy 19q

Phenotypic anomalies due to a genetic imbalance of chromosome 19 have been reported in very rare postnatal cases. Here a case of partial trisomy 19 diagnosed prenatally by ultrasonography and cytogenetic analysis is presented. Detailed evaluation by sonography showed major anomalies which could be correlated to the typical appearance of this chromosomal anomaly. Termination of pregnancy at 21 weeks of gestation was performed, and the prenatal diagnosis was confirmed postnatally by autopsy. The syndrome in this case was caused by a duplication of the long arm of chromosome 19 (46,XY, dup(19) (q13.1-->qter).     

Signet-ring cell carcinoma presenting in the uterine cervix: report of a primary and 2 metastatic cases.

Signet-ring cell carcinoma presenting in the uterine cervix is an uncommon neoplasm. It is usually a metastasis from a primary gastric tumor; only rarely, cervical involvement is the first manifestation of the disease. Primary signet-ring carcinoma of the cervix is extremely unusual, and it is always necessary to rule out a metastatic neoplasm. We report 3 cases of signet-ring cell carcinoma diagnosed in cervical biopsies. All cases were initially considered as metastatic, but a primary site other than the cervix could be confirmed in only 2 cases. Although autopsy was not authorized, a very comprehensive clinical workup and the evolution of the disease support the interpretation of the third case as a primary neoplasm. Primary signet-ring cell carcinoma of the cervix is an extraordinary event-the diagnosis of which requires excluding a metastasis from the gastrointestinal tract (usually the stomach), the ovary, or the breast.     

Prenatal diagnosis of body stalk anomaly at 9 weeks of gestation. Case report

We report on a case of embryonic anomaly detected at 9 + 5 gestational weeks. The lower part of the embryo was located in the coelomic cavity. Lower extremities could not be depicted. The abdominal wall showed the appearance of omphalocoele. After termination of pregnancy at 10 weeks, autopsy confirmed the anomaly of the lower embryonic parts consistent with the diagnosis of body stalk anomaly. To our knowledge, this is the first observation of this condition before 10 gestational weeks.