Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.

OBJECTIVES: To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys. METHODS: This was a retrospective multicenter study. We identified 93 fetuses presenting between 1990 and 2002 with hyperechogenic kidneys and which had a diagnosis of nephropathy confirmed later. We analyzed retrospectively the prenatal ultrasound findings of those fetuses which were found sonographically to have renal cysts. RESULTS: Of the 93 fetuses presenting with hyperechogenic kidneys and with a later diagnosis of nephropathy, there were 28 with autosomal dominant polycystic kidney disease (ADPKD), 31 with autosomal recessive polycystic kidney disease (ARPKD), 11 with Bardet-Biedl syndrome, nine with Meckel-Gruber syndrome, six with Ivemark II syndrome, one with Jarcho-Levin syndrome, one with Beemer syndrome and one with Meckel-like syndrome. One third of the fetuses (30/93) had renal cysts. Cystic characteristics (size, location, number) were not very useful for diagnosis; more useful was diagnosis of an associated malformation. Three (11%) of the fetuses with ADPKD had cysts, as did nine (29%) of those with ARPKD, three (27%) of those with Bardet-Biedl syndrome, all (100%) of those with Meckel-Gruber syndrome, three (50%) of those with Ivemark II syndrome, and each of the three cases with other syndromes (Jarcho-Levin, Beemer and Meckel-like syndromes). None of the cases with trisomy 13 had cysts. There were no associated malformations in the 12 cases with renal cysts and polycystic kidney disease; the other 18 cases with renal cysts were associated with malformations that were often specific, such as polydactyly in Bardet-Biedl and Beemer syndromes, occipital defect and Dandy-Walker malformation in Meckel-Gruber or Meckel-Gruber-like syndromes, and thoracic and/or vertebral abnormalities in Jarcho-Levin and Beemer syndromes. CONCLUSION: Renal cysts associated with hyperechogenic kidneys are not rare. The clue to diagnosis is the demonstration of an associated malformation. If no malformation is found, the main diagnosis remains polycystic kidney disease, i.e. ARPKD or ADPKD.

Meckel-Grüber syndrome: sonography and pathology.

OBJECTIVE: To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS). METHODS: This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included. Analysis included a detailed evaluation of the sonographic findings and comparison with pathological follow-up. RESULTS: Seventeen cases met the pathological criteria for a diagnosis of MGS and were included in the study. In all cases, a typical sonographic pattern was seen: the kidneys were enlarged (mean, + 4.8 SD) and showed unusual corticomedullary differentiation, occurring as early as the first trimester. In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts. CONCLUSIONS: The kidneys of fetuses with MGS are enlarged, cystic and have unusual corticomedullary differentiation. These features can be observed as early as the first and early second trimesters.

Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.

We report the first case of sporadic hypochondroplasia diagnosed in utero by computed tomography (CT) three-dimensional (3D) imaging and molecular analysis at 38 weeks' gestation. Prenatal sonographic examinations performed at 32 and 35 weeks' gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly. Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting skeletal abnormalities which suggested hypochondroplasia. The prenatal diagnosis was confirmed by DNA mutation analysis of the fibroblast growth receptor 3 gene.

Prenatal prognosis of congenital diaphragmatic hernia using magnetic resonance imaging measurement of fetal lung volume.

OBJECTIVES: To investigate the correlation between fetal lung volume (FLV), measured with magnetic resonance imaging (MRI), and postnatal mortality in newborns with prenatally diagnosed isolated congenital diaphragmatic hernia (CDH). METHODS: In a 4-year prospective multicenter study, 77 fetuses with isolated CDH diagnosed between 20 and 33 weeks' gestation underwent fast spin-echo T2-weighted lung MRI. These MRI-FLV measurements were compared with a previously published normative curve obtained in 215 fetuses without thoracoabdominal malformations and with normal ultrasound biometric findings. FLV measurements were correlated with postnatal survival. The mean gestational age at MRI was 31.3 weeks. RESULTS: The measured/expected FLV ratio was significantly lower in the newborns with CDH who died compared with those who survived (23.6 +/- 12.2 vs. 36.1 +/- 13.0, P < 0.001). When the ratio was below 25%, there was a significant decrease in postnatal survival (19% vs. 40.3%, P = 0.008). Survival was significantly lower for neonates when one lung could not be seen by fetal MRI compared with those fetuses with two visible lungs on MRI (17.9% vs. 62.1%, P < 0.001). CONCLUSION: In isolated CDH, FLV measurement by MRI is a good predictor of postnatal mortality due to pulmonary hypoplasia.

Fetal extradural hematoma: prenatal diagnosis and postmortem examination.

We report the 1st confirmed case of an extradural hematoma diagnosed in utero by ultrasonography and magnetic resonance imaging at 31 weeks' gestation. No signs of intracranial hemorrhage were found. During pregnancy, the expecting mother suffered from sustained cough, and a blood sample test revealed acute pertussis. The presence of fetal hydrocephaly, brain parenchymal deviation, and other abnormalities suggested a poor outcome, and based on these findings pregnancy termination was recommended and carried out. Postmortem examination confirmed the diagnosis of an extradural hematoma in the posterior fossa.

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study.

OBJECTIVE: To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management. METHODS: A retrospective multicenter study was conducted in four prenatal diagnostic centers. The records of fetuses with a prenatal ultrasound examination revealing abnormal kidneys and with a final diagnosis of ADPKD were analyzed. Ultrasound analysis included: amount of amniotic fluid, bladder size, renal length, presence or absence of renal cysts and size of renal pelves, and was focused on parenchyma echogenicity and status of corticomedullary differentiation. Postnatal follow-up was reviewed. RESULTS: Of the 27 patients included in the study, 25 had hyperechogenic renal cortex and 20 had hypoechogenic medulla resulting in increased corticomedullary differentiation (CMD). In six cases, the medulla was hyperechogenic leading to absent or decreased CMD. One patient had normal cortical echogenicity and CMD. Renal cysts were present during the prenatal period in four patients (at 22 weeks in one case and after 30 weeks in three cases). In 12 patients, the cysts appeared after birth (within the first 6 months of postnatal life in 10 cases and by the age of 1 year in two cases). Elevated blood pressure was observed in only two cases and moderate chronic renal failure in one case. CONCLUSION: We have described the sonographic presentation in fetuses with ADPKD: moderately enlarged hyperechogenic kidneys with increased CMD. Although not specific to ADPKD, these findings should prompt familial screening. Other prenatal sonographic features (absent or decreased CMD and cortical cysts) are less frequent.

Pregnancy outcome and prognosis in fetuses with increased first-trimester nuchal translucency.

OBJECTIVE: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. MATERIALS: The study was performed prospectively on 252 fetuses with either NT > or =3 mm or cystic hygroma. RESULTS: We observed 50 abnormal karyotypes, i.e. 19.8%. The incidence of chromosome abnormalities increased with increasing maternal age and increasing NT thickness. For the 202 fetuses with normal karyotypes, outcome was unfavourable in 32 cases: 23 elective terminations of pregnancy, 8 spontaneous abortions and 1 neonatal death. Outcome was favourable in 141 cases. Twenty-nine pregnancies were lost to follow-up. CONCLUSION: Measurement of NT at 12 weeks' gestation seems to be a good marker for chromosome abnormalities. When the karyotype is normal, the pregnancy outcome remains correlated with the degree of NT thickness. The finding of NT >3 mm between 10 and 14 weeks' gestation dictates rigorous ultrasound monitoring and caution when predicting pregnancy outcome.

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.

Fetal lung volume: estimation at MR imaging-initial results.

PURPOSE: To plot normal fetal lung volume (FLV) obtained with fast spin-echo magnetic resonance (MR) images against gestational age; to investigate the correlation between lung growth and fetal presentation, sex, and ultrasonographic (US) biometric measurements; and to investigate its potential application in fetuses with thoracoabdominal malformations. MATERIALS AND METHODS: In a prospective multicenter study, 336 fetuses suspected of having central nervous system disorders underwent fast spin-echo T2-weighted lung MR imaging. Data obtained at 21-38 weeks gestation in 215 fetuses without thoracoabdominal malformations and with normal US biometric findings were selected for an FLV normative curve. FLV measurements obtained at pathologic examination with an immersion method were compared with MR FLV measurements in 11 fetuses. MR FLV values in 16 fetuses with thoracoabdominal malformations were compared with the normative curve. RESULTS: Normal FLV increased with gestational age as a power curve; the spread of values increased with age. Interobserver correlation was excellent (R(2) = 0.96). FLV measurements at MR imaging were 0.90 times those at pathologic examination. A constant ratio (0.78) between FLV on the left and right sides was observed. No significant difference in FLV was observed between fetal presentations. Normal FLV was observed in all fetuses with cystic adenomatoid malformations and in four of six with oligohydramnios. Lowest FLV values were observed in fetuses with diaphragmatic hernia. CONCLUSION: In fetuses with normal lungs, FLV distribution against gestational age is easily assessed in utero with fast spin-echo T2-weighted MR imaging. These preliminary findings illustrate the potential for comparing FLV measurements in fetuses at risk of lung hypoplasia with normative values.

Contribution of transvaginal ultrasonography and fetal cerebral MRI in a case of congenital cytomegalovirus infection.

Cytomegalovirus is the most common cause of congenital viral infection. In utero this infection is usually suspected on the basis of ultrasound findings. We present a case in which routine ultrasound examination demonstrated a decrease in fetal cephalic dimensions at 32 weeks' gestation in an asymptomatic patient. Transvaginal ultrasound revealed echogenic vessels in the thalami and lesions in the subependymal region. Suspected diagnosis of fetal cytomegalovirus infection was confirmed by positive titers of anti-cytomegalovirus-IgM antibodies in fetal blood and amniotic-fluid PCR studies. Fetal cerebral MRI demonstrated parenchymal atrophy and polymicrogyria. The parents decided to terminate the pregnancy, and necropsy confirmed the diagnosis. Suspicion of CMV fetal infection should prompt transvaginal ultrasound and fetal brain MRI.

[ROC analysis comparing screen film mammography and digital mammography]. / Etude comparative par méthodologie ROC: mammographie conventionnelle versus mammographie numérique.

PURPOSE: To compare the diagnosis performances of radiologists on screen film versus digital mammography. MATERIAL: and methods: Two sets of 123 mammograms, screen film mammography and storage phosphor digital mammography, are studied comparatively with ROC analysis. RESULTS: Phantom study show that conventional method give better scores for usual tension but the detectability of smaller microcalcification is equivalent. To obtain with digital technic the same conventional score you have to increase the radiation dose. Roc Curves, simulated "detection" mode showed that radiologists performed with higher accuracy with conventional system but this difference is weekly statistically significant. ROC Curves, simulated "diagnostic" mode showed the same results wit no statistically significant difference but when the decision to go to the biopsy is the gold standard, ROC Curves were essentially equivalent for both film screen and digital mammography system. The readers consistently considered the digital mammograms to be less suspicious for cancer findings. The agreement study as proposed by the FDA indicate that probability of a positive digital mammograms given a positive screen film is 75% (threshold value 90%) and the probability of a negative digital mammograms given a negative analog film is 85% (threshold value 85%). CONCLUSION: Analysis of specific discrepancies indicate that spatial resolution is an essential limiting factor for digital method but high resolution phosphor plate are interesting in imaging treated breast, radioluscent lesion, fatty benign tumor, hamartoma, intramammary lymph node, breast with prosthesis.

[Liposarcoma of the breast. A case report]. / Liposarcome du sein. A propos d'un cas.

Liposarcoma of the breast is an unfrequent tumor that can be found in 45-55-year-old women, usually with benign clinical and radiological characteristics. We report the case of a 50-year-old patient treated with menopausal hormonal replacement therapy, for whom mammographic screening revealed a solid tumor. Lumpectomy was performed and histology reported liposarcoma of the breast. Two years after surgery alone no relapse was observed. Our case report underlines the possibility of discovering this type of tumor by means of mammographic examination performed during menopausal hormonal replacement therapy. It suggests good prognosis after surgery alone.

[Diagnostic prenatal ultrasonography of malformations of the fetal anterior abdominal wall]. / Diagnostic échographique anténatal des malformations de la paroi anterieure du foetus.

Abdominal wall defects include a broad spectrum of structural malformations with variable severity and prognosis. The purpose of prenatal ultrasound examination is to correctly diagnose and classify these malformations according to their localization (particularly their relation to the umbilical cord insertion), their contents, their size and associated malformations or karyotypic abnormalities. Based on this examination, two groups can be distinguished: gastroschisis or omphalocele (when the latter is isolated, in particular without karyotypic abnormalities) which can be surgically corrected at birth, and for which predictive criteria of outcome must be evaluated (vitality of herniated bowel, size and contents of omphalocele); severe malformations (ectopia cordis, cloacal exstrophy, Beckwith-Wiedemann syndrome, short umbilical cord, amniotic band syndrome) for which pregnancy termination could be proposed.

Early prenatal diagnosis of ventricular diverticulum complicated by serous pericardial effusion.

An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malformation that occurs as an isolated defect or as part of a complex midline thoraco-abdominal defect. Only two prenatally diagnosed cases have been previously reported in the literature and none with associated hydropericardium.

Prenatal diagnosis of trisomy 9. Six cases and a review of the literature.

Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.

[Prenatal diagnosis of nuchal edemas and cystic hygromas of the neck. 49 cases]. / Diagnostic prénatal des oedèmes de la nuque et des hygromas kystiques du cou. A propos de 49 cas.

OBJECTIVES: Determine the pathogenesis of fetal nuchal oedema and cystic hygromas of the neck and establish prenatal prognosis factors. METHODS: Retrospective study of 49 cases including 35 early diagnoses (10 to 14 weeks gestation) and 14 late diagnosis (after 15 weeks). Chorial villosity biopsy was performed for fetal karyotype. RESULTS: The global rate of genetic or chromosomic abnormalities in the fetuses was 47%. The fetuses with nuchal associated with other echographic anomalies had a high risk of chromosomic aberrations (80%). Fetuses with nuchal oedema alone during the first trimester had a higher risk of trisomy 21 proportionally with the age of the mother and paradoxically no trisomy 21 was found in women under 30 years of age. When early nuchal oedema regressed spontaneously in an euploid fetus, echographic surveillance can be proposed to detect possible polymalformation syndromes discovered late. Cystic hygromas of the neck were diagnosed from 15 weeks gestation and were always pathologic. CONCLUSION: Interpreting nuchal images in the fetus must take into account the echographic term at discovery and its isolated or associated nature. Further studies are needed to determine indications for chorial villosity biopsy in mothers under 30 with a fetus with isolated nuchal oedema which regresses spontaneously during the first trimester.

[Prenatal diagnosis of a hydrothorax secondary to an extralobar pulmonary sequestration]. / Diagnostic prénatal d'un hydrothorax secondaire à une séquestration pulmonaire extralobaire.

A case of antenatal hydrothorax was observed. The aetiology could not be determined before birth. At birth an extra-lobe lung sequestation was treated surgically after 3 weeks in the intensive care unit. The surgical cure was successful with no sequellae. This favourable outcome is unusual in this type of pathology and can be explained by the fact that the sequestration was isolated in a fetus with only minimal anasarca. Indications for prenatal pleural drainage are discussed.