Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.

BACKGROUND: There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities. METHODS: Ten cases of prenatally diagnosed sacral agenesis were included between 1995 and 2014 after collating ultrasound findings and prenatal computed tomography data. RESULTS: Two cases of total sacral agenesis and 8 of partial agenesis were included. There were 1 or more spinal abnormalities in 8/10 cases: 6 lipomas, 4 low-lying tethered cords, 2 diastematomyelias, and 1 syringomyelia. Three situations were distinguished: sacral agenesis with low-lying tethered cord, sacral agenesis with a truncated CM, and sacral agenesis with CM in place. If the sacral agenesis is isolated, a lipoma should be sought. Lipomas of the filum have a good prognosis, whereas lipomas of the CM cause neurological deficits in 1/3 of cases. When there is a low-lying tethered cord, a diastematomyelia or a syringomyelia may be associated. In truncated CM, there may be a severe form suggestive of caudal regression syndrome. Serious ultrasound signs are immobility of the lower limbs, talipes equinovarus, impaired bladder emptying, and dilatation of the upper urinary tract. CONCLUSION: A precise description of the morphology of the CM, its position, and associated spinal malformations are important in defining the neurological, urinary, gastrointestinal, and motor functions prognosis in cases of fetal sacral agenesis.

Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity.

OBJECTIVE: To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). METHOD: All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records for children with isolated PRS monitored over 20 years at a PRS referral center for prenatal anomalies and the severity of neonatal feeding and respiratory functional disorders were utilized for comparison. RESULTS: From a prenatal ultrasound database of 166 000 cases, 157 had one or more of the sonographic signs suggestive of PRS and had follow-up available. Of them, 33 (21%) had confirmed PRS, 9 (6%) were normal and 115 (73%) had chromosomal aberrations, associated malformations or neurological anomalies. Visualization of a posterior cleft palate in addition to retro-micrognathia had a positive predictive value of 100% for PRS. The distribution of functional severity grades was similar in cases suspected prenatally as in 238 cases of PRS followed in the referral center in Necker Hospital. CONCLUSION: Only a minority of cases of fetal retrognathia have complete PRS; the majority have other severe conditions. Prenatal prediction of functional severity of isolated PRS is not possible.

Prenatal diagnosis of main stem bronchial atresia using 3-dimensional ultrasonographic technologies.

OBJECTIVE: The purpose of this series was to report the contribution of 3-dimensional ultrasonographic (3DUS) technologies in performing the prenatal diagnosis of main stem bronchial atresia (BA). METHODS: We report 2 cases in which the prenatal diagnosis of main stem BA was performed using 3DUS technologies. Both fetuses presented with extremely enlarged hyperechoic right lungs, shifting the mediastinum to the left, associated with hydrops and polyhydramnios. A revision of the literature was made, focusing on the prenatal characteristics and perinatal prognosis of main stem BA. RESULTS: In the first case, a congenital type III cystic adenomatoid malformation was suspected initially, but a posterior 3DUS analysis on multiplanar imaging allowed identification of a dilated right bronchus, and a right main stem BA was confirmed at autopsy. In the second case, volume contrast imaging was used during fetal scanning, which also allowed identification of the right main bronchial dilatation. In reviewing the literature, we found a tendency for main stem BA to be more severe than lobar and segmental atresias. CONCLUSIONS: Three-dimensional ultrasonographic technologies may improve the pre-natal diagnosis of main stem BA.

Three-dimensional ultrasonographic measurements of the fetal lungs for prediction of perinatal outcome in isolated congenital diaphragmatic hernia.

AIM: To evaluate the potential of different lung measurements using three-dimensional ultrasonography (3D-US) to predict perinatal outcome in isolated congenital diaphragmatic hernia (CDH). METHODS: Twenty-one fetuses presenting isolated CDH were prospectively evaluated by 3D-US between January 2002 and November 2003. Observed/expected total, contralateral and ipsilateral fetal lung volume ratios (o/e-TotFLV, o/e-ContFLV and o/e-IpsiFLV, respectively) were calculated using the rotational technique and ultrasonographic fetal total lung volume to bodyweight ratio (USFLW). These lung measurements were compared to each other and to perinatal outcomes: perinatal deaths, severe pulmonary hypoplasia (PH) and pulmonary arterial hypertension (PAH). RESULTS: Perinatal death occurred in 11 of the 21 infants (52.4%), severe PH in 14 of 21 infants (66.7%) and PAH in 14 of 20 neonates (70%). Severe PH and PAH occurred simultaneously in 12 of 20 (60%) infants. Good correlations between lung ratios were observed. O/e-TotFLV, o/e-IpsiFLV and USFLW correlated statistically with postnatal diagnosis of severe PH, while only o/e-TotFLH correlated statistically with postnatal diagnosis of PAH. The accuracies of o/e-TotFLV, o/e-ContFLV, o/e-IpsiFLV and USFLW in predicting perinatal deaths were 85.7, 76.2, 66.7 and 76.2%, respectively. CONCLUSION: O/e-TotFLV using 3D-US appears to be the most accurate predictor of perinatal mortality because it can predict both PH and PAH.

Predicting neonatal deaths and pulmonary hypoplasia in isolated congenital diaphragmatic hernia using the sonographic fetal lung volume-body weight ratio.

OBJECTIVE: The objective of our study was to evaluate the potential of the sonographic fetal lung volume-body weight ratio to predict neonatal deaths and pulmonary hypoplasia in fetuses with isolated congenital diaphragmatic hernia (CDH). SUBJECTS AND METHODS: Between January 2002 and December 2004, 40 fetuses with isolated CDH and 450 control subjects were prospectively evaluated in two centers. Fetal lung volumes were estimated on 3D sonography using the rotational technique and fetal weight on 2D sonography using the Hadlock equation. The ratio of sonographic fetal lung volume to body weight was calculated in each case and was correlated with neonatal deaths using the Mann-Whitney U test. Accuracies of the ratio in predicting neonatal deaths and pathologic diagnosis of pulmonary hypoplasia were also evaluated. RESULTS: The ratio of sonographic fetal lung volume to body weight is constant throughout gestation, with a mean value of 0.025. The ratio was significantly lower in neonates that died (median, 0.009; range, 0.004-0.021) than in those that survived (median, 0.011; range, 0.008-0.020) (p = 0.018). Pulmonary hypoplasia was suspected prenatally in 34 of 40 (85.0%) fetuses with CDH, in all cases of death (100%), and in seven of nine (77.8%) neonates that survived. At autopsy, pulmonary hypoplasia was diagnosed in 19 cases (86.4%). Accuracies of the ratio in predicting neonatal deaths and pulmonary hypoplasia were 64.5% (20/31) and 86.4% (19/22), respectively. CONCLUSION: The sonographic fetal lung volume-body weight ratio can be used more accurately to diagnose pulmonary hypoplasia than to predict neonatal deaths in fetuses with isolated CDH. Further studies are necessary to show the prevalence of pulmonary hypoplasia in fetuses with isolated CDH and its importance for predicting neonatal deaths.

Ipsilateral lung volumes assessed by three-dimensional ultrasonography in fetuses with isolated congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the precision of three-dimensional ultrasonography (3DUS) in estimating the ipsilateral lung volume and the potential of this measurement to predict neonatal death in congenital diaphragmatic hernia (CDH). METHODS: Between January 2002 and December 2004, the ipsilateral lung volumes were assessed by 3DUS using the technique of rotation of the multiplan imaging in 39 fetuses with CDH. The observed/expected ipsilateral lung volume ratios (o/e-IpsiFLVR) were compared to the lung/head ratios (LHR) and to the observed/expected total fetal lung volume ratios (o/e-TotFLVR) as well as to postnatal death. RESULTS: Ipsilateral lung volumes (median 0.12, range 0.01-0.66) were more reduced than the total lung volumes (median 0.52, range 0.11-0.95, p < 0.001) in CDH. The bias and precision of 3DUS in estimating ipsilateral lung volumes were -0.61 and 0.99 cm(3), respectively, with absolute limits of agreement from -2.56 to +1.33 cm(3). The o/e-IpsiFLVR was lower in neonatal death cases (median 0.09, range 0.01-0.46) than in survivals (median 0.18, range 0.01-0.66), but this difference was not statistically significance (p > 0.05). The sensitivity, specificity, (positive and negative) predictive values and accuracy of o/e-IpsiFLVR in predicting neonatal death was 52.6% (10/19), 83.3% (10/12), 83.3% (10/12), 52.6% (10/19) and 64.5% (20/31), respectively. CONCLUSION: Although the ipsilateral lung volume can be measured by 3DUS, it cannot be used to predict neonatal death when considering it alone. However, it is important to measure it to calculate the total fetal lung volumes as the o/e-TotFLVR has the best efficacy in predicting neonatal death in isolated CDH.

Quantitative analysis of fetal pulmonary vasculature by 3-dimensional power Doppler ultrasonography in isolated congenital diaphragmatic hernia.

OBJECTIVE: The purpose of this study was to evaluate the potential of 3-dimensional (3D) power Doppler imaging to predict neonatal outcome and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH). STUDY DESIGN: In this prospective observational study, 3D-power Doppler ultrasonography was performed in 21 cases with isolated CDH between 23 and 33 weeks of gestation and in 58 controls between 20 and 40 weeks. Using the same preestablished settings for all cases, power Doppler was applied to each lung, and fetal lung volumes (FLV) were estimated using the rotational technique. The 3D power Doppler histogram was used to determine the vascular indices, which were plotted against gestational age and compared with neonatal outcome, PAH, gestational age, and FLV. RESULTS: Fetal pulmonary vascular indices showed a constant distribution throughout gestation, being significantly lower in cases with CDH than in controls (P < .001). Among CDH cases, the vascular indices were significantly lower in fetuses who died (P < .05), and in fetuses with neonatal PAH (P < .05). The severity of neonatal PAH was also associated with a progressive reduction in prenatal vascular indices (P < .05). All vascular indices correlated with o/e-FLV, but not with gestational age. CONCLUSION: All vascular indices seem to be constant throughout gestation. In isolated CDH, perinatal outcome and postnatal PAH can be predicted using the vascular indices assessed by 3D power Doppler histogram.

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype combining subtle physical anomalies with behavioral and learning problems, to a perinatally lethal multiple malformations syndrome. The fetal phenotype of SLOS has been poorly described in the literature. We report a series of 10 fetuses with molecularly proven SLOS. Even in young fetuses, the facial dysmorphism appears characteristic. Genital abnormalities are rare in 46,XX subjects. Gonadal differentiation appears histologically normal and in agreement with the chromosomal sex, contrary to what has been previously stated. We observed some previously unreported anomalies: ulnar hypoplasia, vertebral segmentation anomalies, congenital pulmonary adenomatoid malformation, fused lungs, gastroschisis, holomyelia and hypothalamic hamartoma. This latter malformation proves that SLOS phenotypically overlaps with Pallister-Hall syndrome which remains clinically a major differential diagnosis of SLOS.

Three-dimensional sonographic measurement of contralateral lung volume in fetuses with isolated congenital diaphragmatic hernia.

PURPOSE: To use 3-dimensional sonography (3DUS) to measure contralateral lung volume and evaluate the potential of this measurement to predict neonatal outcome in isolated congenital diaphragmatic hernia (CDH). METHODS: Between January 2002 and December 2004, the contralateral lung volumes of 39 fetuses with isolated CDH were measured via 3DUS using rotational multiplanar imaging. The observed/expected contralateral fetal lung volume ratios (o/e-ContFLVR) were compared with the lung/head ratio (LHR), observed/expected total fetal lung volume ratio (o/e-TotFLVR), and postnatal outcome. RESULTS: Contralateral lung volumes are less reduced than total lung volumes in CDH. The bias and precision of 3DUS in estimating contralateral lung volumes were 0.99 cm(3) and 1.11 cm(3), respectively, with absolute limits of agreement ranging from -1.19 cm(3) to +3.17 cm(3). The o/e-ContFLVR was significantly lower in neonatal death cases (median, 0.49 cm(3); range, 0.22-0.99 cm(3)) than in survival cases (median, 0.58 cm(3); range, 0.42-0.92 cm(3) [p < 0.01]). Overall accuracy of the o/e-ContFLVR, o/e-TotFLVR, and LHR in predicting neonatal death were 67.7% (21/31), 80.7% (25/31), and 77.4% (24/31), respectively. CONCLUSION: Although o/e-ContFLVR can be precisely measured with 3DUS and can be used to predict neonatal death in CDH, it is less accurate than LHR and o/e-TotFLVR for that purpose.

Predicting perinatal outcome in isolated congenital diaphragmatic hernia using fetal pulmonary artery diameters.

OBJECTIVE: The aim of the study was to evaluate the potential of fetal pulmonary artery (PA) diameters to predict perinatal death and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH). STUDY DESIGN: In this prospective observational study, observed PA (main, right, and left) diameters were measured at the level of the 3 vessels in 21 fetuses with isolated CDH and in 85 controls at 22 to 36 weeks. The observed/expected (o/e) diameters of the main, contralateral, and ipsilateral PAs were calculated by comparing these measurements with reference values obtained in our previous study and correlated with perinatal death and postnatal PAH. RESULTS: The o/e PA diameters were significantly reduced in fetuses with CDH compared to controls (P < .001) and in fetuses with CDH who died (P < .050). However, there was no significant association between PA diameters and PAH (P >or= .050). CONCLUSIONS: The PA diameters might be useful to predict perinatal death in isolated CDH but not postnatal PAH, suggesting that PA diameters are probably related to the severity of pulmonary hypoplasia.

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand-receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations.

A nomogram of fetal lung volumes estimated by 3-dimensional ultrasonography using the rotational technique (virtual organ computer-aided analysis).

OBJECTIVE: The purpose of this study was to build a nomogram of normal fetal lung volumes throughout gestational age estimated by 3-dimensional ultrasonography using the rotational technique (Virtual Organ Computer-Aided Analysis [VOCAL]; GE Healthcare, Kretztechnik, Zipf, Austria). METHODS: Fetal lung volume was assessed in 146 healthy fetuses by 3-dimensional ultrasonography using the technique of rotation of the multiplanar imaging (VOCAL). Inclusion criteria were healthy women with singleton normal pregnancies, normal fetal morphologic ultrasonographic findings, reliable dating established by dates and by ultrasonographic measurement of the crown-lump length in the first trimester, and gestational age from 20 to 37 weeks. Exclusion criteria were discordance between clinical and ultrasonographic dating, patients lost to follow-up, and birth weight disorders. Each patient was scanned once during pregnancy. RESULTS: The right, left, and total mean pulmonary volumes ranged, respectively, from 5.37, 4.66, and 9.95 cm3 at 20 weeks to 46.06, 37.34, and 84.35 cm3 at 37 weeks. The logistic transformation analysis yielded the following formulas: right lung volume = exp(4.07/[1 + exp(21.90 - gestational age/5.44)]); left lung volume = exp(3.82/(1 + exp[22.03 - gestational age/5.17)]); and, total lung volume = exp(4.72/[1 + exp(20.30 - gestational age/6.05)]). CONCLUSIONS: A new nomogram of fetal lung (right, left, and total) volumes throughout gestational age using the rotational technique (VOCAL) is described, and reference values have been generated.

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.

OBJECTIVES: Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT. METHODS: Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution. RESULTS: Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter. CONCLUSION: This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis.

Prenatally diagnosed sacrococcygeal teratoma: a prognostic classification.

PURPOSE: The objective of this study is to describe a prognostic classification for prenatally diagnosed sacrococcygeal teratoma (SCT). METHODS: Charts from 44 fetuses were reviewed. Three groups were defined as follows: group A--tumor diameter less than 10 cm, absent or mild vascularity and slow growth; group B--diameter 10 cm or greater, pronounced vascularity or high-output cardiac failure and fast growth; group C--diameter 10 cm or greater, predominantly cystic lesion with absent or mild vascularity and slow growth. RESULTS: Size at diagnosis, growth rate, and vascularity were higher in group B. Gestational age at delivery was lower in group B. Eleven of 21 died in the perinatal period in group B and none in groups A and C. In group C, drainage or shunting of the SCT has been performed in 6 of 10 cases. CONCLUSIONS: Group A is associated to good maternal and perinatal outcome, as well as group C, although shunting or drainage of the SCT could be necessary. Large fast-growing SCT with rich vascularity is associated with a higher perinatal mortality and morbidity than smaller lesions with mild vascularity.

The impact of 3-dimensional ultrasonography on perinatal management of a large epignathus teratoma without ex utero intrapartum treatment.

We report a case of epignathus teratoma diagnosed at 22 weeks of gestation in which 3-dimensional ultrasound (3DUS) was useful to plan perinatal management. A significant enlargement of the tumor, associated with polyhydramnios and preterm labor, was observed at 35 weeks of gestation. After amniotic fluid evacuation, 3DUS was performed in the presence of pediatricians, obstetricians, and otolaryngologists. Three-dimensional ultrasound revealed that great part of the tumor was located outside the fetal mouth and anterior to fetal mandible, suggesting that the newborn could breathe spontaneously by nasal via. A cesarean section with longitudinal hysterotomy was performed at 36 weeks followed by an immediate extirpation of the tumor and the intubation of the newborn. The management of this rare case illustrates that the ex utero intrapartum treatment (EXIT) procedure is not always necessary in this situation. Besides, the actual prenatal goal consists on carefully selecting fetuses with epignathus teratoma that will need the EXIT procedure from those that will not. Three-dimensional ultrasound and magnetic resonance imaging in association with 2DUS can be helpful in this prenatal selection.

Perinatal three-dimensional color power Doppler ultrasonography of vein of Galen aneurysms.

OBJECTIVE: To present the prenatal and postnatal three-dimensional color power Doppler ultrasonographic features in cases of vein of Galen aneurysmal malformation. METHODS: Prenatal three-dimensional color power Doppler ultrasonography was used to image the neurovascular malformations in 3 fetuses with vein of Galen aneurysms and in unaffected control fetuses at the same gestational age. Postnatal transfontanel three-dimensional power Doppler ultrasonography was also performed in the third affected case and in an unaffected control neonate. The feeding and drainage vessels were analyzed in the three-dimensional rendering mode. RESULTS: The first case was complicated by porencephaly and fetal heart failure, and the pregnancy was terminated. The other 2 cases were uncomplicated prenatally, but 1 of the infants died after aneurysmal embolization due to acute cerebral ischemia. The angioarchitecture of the arteriovenous fistula was characterized in greater detail by three-dimensional color power Doppler ultrasonography than by two-dimensional ultrasonography, especially regarding the anatomic features of the feeding and drainage vessels and their connections with the dilated vein of Galen. CONCLUSIONS: Three-dimensional color power Doppler ultrasonography provided detailed images of the aneurysmal malformation and its vascular connections. Further studies are needed to correlate three-dimensional vascular imaging patterns with outcome.

Sonography in prenatal diagnosis of congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21-hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt-wasting (lack of aldosterone) phenotype. When a proband exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. We describe herein two cases suggesting that the prenatal diagnosis of CAH can be initiated by the sonographic appearance of the adrenal gland at the second-trimester scan in the absence of a family history.

Volume contrast imaging: A new approach to identify fetal thoracic structures.

OBJECTIVE: To assess the potential of volume contrast imaging for evaluation of fetal intrathoracic structures. METHODS: Volume contrast imaging is a new ultrasonographic method that increases the contrast between tissues. It consists of a 5- to 10-mm-thick slice-shaped volume image projected on a 2-dimensional screen. The rendering process applied on the slice smoothens the speckle pattern of the image by filling up the gaps with tissue information from the adjacent layers. To evaluate the potential of volume contrast imaging for enhancing the contrast between fetal lungs and surrounding tissues, we compared the ability of volume contrast imaging and conventional ultrasonography to image the fetal thymus in 50 controls. We also applied volume contrast imaging to prenatal imaging of 6 thoracic abnormalities (2 left congenital diaphragmatic hernias, 1 right diaphragmatic hernia, 2 congenital adenomatoid lung malformations, and 1 lung sequestration). RESULTS: In controls, the thymus was identified in all cases by volume contrast imaging and in 42 cases (84%) by conventional 2-dimensional ultrasonography. Clear images of macrocystic and microcystic congenital adenomatoid malformations were obtained by volume contrast imaging, which provided precise contouring of the lesions. In cases with congenital diaphragmatic hernias, volume contrast imaging provided clear images of the limits of the lungs ipsilateral to the hernia. CONCLUSIONS: Volume contrast imaging may enhance the contrast between fetal lungs and surrounding organs and can be applied to prenatal imaging of intrathoracic structures in cases with thoracic fetal abnormalities.

Prenatal sonographic diagnosis of congenital hiatal hernia.

OBJECTIVES: To report a rare case of congenital hiatal hernia illustrating the importance of its prenatal diagnosis as well as to discuss the prenatal sonographic criteria. CASE REPORT: A case of congenital hiatal hernia was diagnosed by ultrasound at 33 weeks of gestation. After a normal second-trimester morphologic ultrasound examination, a hypoechogenic mass was detected in the posterior mediastinum juxtaposed to the vertebral body and seemed to be in continuity with the intra-abdominal stomach bubble. Congenital hiatal hernia was suspected mainly because of the dynamic position of the stomach during the examination, without mediastinal shift, and normal appearance of the diaphragm on parasagittal sections of the thorax. Postnatal management was planned with no urgency and surgery was successfully performed, confirming the diagnosis. CONCLUSION: This rare case illustrates the importance of prenatal diagnosis of congenital hiatal hernia for prenatal counseling and postnatal management. The ultrasound criterion for prenatal diagnosis is the presence of a herniated stomach in the posterior mediastinum, sometimes having a dynamic position during examination, with no mediastinal shift associated with normal diaphragm appearance on parasagittal sections of the thorax.

Can three-dimensional ultrasound be used for the assessment of the fetal lung volume in cases of congenital diaphragmatic hernia?

We report on 2 fetuses with congenital diaphragmatic hernia (CDH) in whom the fetal lung volumes were estimated by three-dimensional ultrasound and the results compared with the postmortem lung volume measurements. Both examiners (sonographer and pathologist) were blinded to each other's results. The 1st case was a right CDH diagnosed at 20 weeks of gestation. The 2nd case was a left CDH diagnosed at 22 weeks of gestation. Both pregnancies were terminated upon request of the parents. Three-dimensional ultrasound estimation of the fetal lung volume was performed 1 day before termination of pregnancy using the technique of rotation of the three perpendicular planes. The left and right lung volumes estimated by three-dimensional ultrasound were 3.88 and 1.87 cm(3), respectively, in the 1st case and 0 and 5.52 cm(3), respectively, in the 2nd case. On postmortem examination, the left and right lung volumes were 3.0 and 2.2 cm(3), respectively, in case 1 and 1.1 and 5.6 cm(3), respectively, in case 2. This suggests that a three-dimensional estimation of pulmonary volumes may be correlated with postmortem findings in cases with CDH.