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ABSTRACT: OBJECTIVE: This study aims to evaluate the perinatal outcomes of fetuses with isolated omphalocele diagnosed before 14 weeks of gestation (WG) and determine whether visceral-abdominal disproportion (ratio between mean omphalocele diameter and transverse abdominal diameter) and omphalocele contents can predict neonatal morbidity. METHODS: This is a retrospective cohort study of omphaloceles diagnosed before 14 WG at three tertiary centers between January 1998 and January 2010. In the group of isolated omphaloceles (i.e., euploid and no other malformation), ratio of visceral-abdominal disproportion and omphalocele contents were evaluated as predictors of perinatal morbidity. RESULTS: Among 153 fetal omphaloceles diagnosed before 14 WG, 74 were excluded because of abnormal karyotype or other malformations. Among the 79 isolated fetal omphaloceles, the survival rate at birth was 68% (54/79), with a global morbidity rate of 33% (18/54). Of the live born fetuses, 92.6% (50/54) survived the neonatal period, and 96% (48/50) without long-term sequelae. There was a significant increase in neonatal morbidity when the ratio of disproportion was greater than 0.8 or when the liver was contained in the omphalocele in the first trimester. CONCLUSION: In cases of isolated omphalocele in the first trimester, visceral-abdominal disproportion and omphalocele contents predict perinatal morbidity. © 2013 John Wiley & Sons, Ltd.
Prenatal Diagnosis 03/2013; · 2.11 Impact Factor
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Guillaume Macé,
Pascale Sonigo,
Valérie Cormier-Daire,
Marie-Cécile Aubry,
Jelena Martinovic,
Caroline Elie,
Marie Gonzales,
Bruno Carbonne, Yves Dumez,
Martine Le Merrer,
Francis Brunelle,
Alexandra Benachi
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ABSTRACT: AIMS: Prenatal diagnosis of skeletal dysplasia is often difficult. The aims of this work were (1) to study the use of helical computed tomography (helical CT) in discriminating normal from pathological cases, and its diagnostic value, as a complement to ultrasound, (2) to define the most relevant indications, and (3) to evaluate its diagnostic performance concerning radiological criteria considered discriminatory. METHODS: Retrospective study from 2005 to 2008 in 67 pregnant women who underwent helical CT because of suspected fetal skeletal dysplasia. Helical CT was used, after 26 weeks of gestation, in cases of fetal shortened long bones, either alone or associated with other bone abnormalities. The results were compared with pediatric examinations in 41 cases and with fetal autopsy findings after elective termination of pregnancy in the other cases. RESULTS: Helical CT had a sensitivity of 82%, specificity of 91%, and positive and negative predictive values of 90% and 83%, respectively. An etiological diagnosis was specified in 15% of cases, confirmed in 24% and discounted in 43%. The prevalence of skeletal dysplasia was increased if there was a combination of bone signs. Helical CT showed 69% sensitivity in identifying predefined pathological bone signswhich were confirmedon fetal autopsy findings. CONCLUSION: Helical CT is a key examination in the diagnosis of fetal skeletal dysplasia, in combination with ultrasound from 26 weeks of gestation. It should be reserved for severe micromelia below the 3rd percentile and for micromelia associated with another bone sign. A check list of discriminatory signs is proposed. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound in Obstetrics and Gynecology 09/2012; · 3.01 Impact Factor
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ABSTRACT: To report the prevalence of the association between gastroschisis and other anomalies, their prenatal characteristics and the postnatal follow-up.
Prenatal and postnatal data from all patients with gastroschis prenatally diagnosed between January 1998 and December 2006 were reviewed concerning the presence of associated anomalies.
Gastroschisis was prenatally diagnosed in 108 fetuses. Associated anomalies were identified in 14 cases (prevalence of 13.0%), with prenatal diagnosis being made in 5 (35.7%) patients. Postnatal examination revealed the association of other anomalies in nine other newborns not observed during prenatal examinations. Maternal age, parity, gestational age at diagnosis and birth, delivery mode and birth weight were similar in cases with 'isolated gastroschisis' and associated anomalies (p > 0.05). Survival rates in the 'isolated gastroschisis group' and 'associated anomaly group' were 91.5 and 78.6% (p > 0.05), respectively. The median time before oral feeding tended to be longer (but not statistical significantly) in the 'associated anomaly group' (32, range: 5-720 days) compared to the 'isolated gastroschisis group' (22, range: 5-180 days; p = 0.06), but with a significantly longer permanence in neonatal intensive care unit (p = 0.04).
This study highlights the importance of identifying other anomalies when evaluating fetuses with gastroschisis to permit counselling concerning the postnatal outcomes.
Prenatal Diagnosis 04/2011; 31(4):347-50. · 2.11 Impact Factor
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ABSTRACT: A decrease in the volume of congenital pulmonary malformations (CPM) can be observed on prenatal ultrasonography, but the underlying mechanism for this phenomenon is unknown. Our objective was to identify factors associated with the prenatal reduction in size of cystic and/or hyperechoic lung lesions.
This was a retrospective study of cases with a prenatal diagnosis of hyperechoic and/or cystic lung lesion. The extent of reduction in lesion size was calculated from ultrasound measurements. Clinical, ultrasound, radiological and histological data were tested for their relationship with prenatal CPM reduction.
In a 4-year period, 36 patients were referred with a cystic and/or hyperechoic fetal lung lesion diagnosed at a mean gestational age of 23.4 weeks. The lesions were cystic in 16 cases (44%), hyperechoic in 12 (33%) and both in eight (22%). The malformation was no longer visible before birth (apparent disappearance) in nine cases (25%), shrank by 18-90% in 15 (42%) and did not reduce in 12 (33%). Findings on postnatal computed tomography were always abnormal. Isolated hyperechoic lesions were significantly more likely to shrink in utero. The mean reductions were 79%, 35% and 19%, for isolated hyperechoic, cystic and mixed lesions, respectively (P=0.001). Only 8% of hyperechoic lesions demonstrated no volume reduction, as compared to 50% and 42% of cystic and mixed lesions, respectively (P=0.03). Greater gestational age at birth was also associated with a decrease in the incidence of malformations (P=0.02). In cases that underwent surgery, hyperechoic lesions were linked to a variety of pathological diagnoses, whereas cystic lesions were all described histologically as congenital cystic adenomatoid malformations.
Prenatal size reduction of fetal lung malformations is associated with isolated hyperechogenicity and greater gestational age at birth. This might result from the resumption of normal lung development after local disruption of lung growth.
Ultrasound in Obstetrics and Gynecology 12/2010; 38(1):88-93. · 3.01 Impact Factor
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ABSTRACT: To evaluate the potential of different lung measurements using three-dimensional ultrasonography (3D-US) to predict perinatal outcome in isolated congenital diaphragmatic hernia (CDH).
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).
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.
O/e-TotFLV using 3D-US appears to be the most accurate predictor of perinatal mortality because it can predict both PH and PAH.
Journal of Obstetrics and Gynaecology Research 12/2009; 35(6):1031-41. · 0.94 Impact Factor
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ABSTRACT: Prenatal imaging has benefitted from rapid technological progress in the last ten years. Ultrasound remains the standard screening method for fetal malformations but can be hindered by the bony structure of the skull. In particular, it can be difficult to distinguish between white and grey matter. MRI is a useful complementary method for detecting brain malformations. In particular, MRI is necessary to detect associated malformations and to obtain a precise diagnosis when ultrasound examination shows ventricular dilation. MRI is taking an increasingly important place in the assessment and prognostication of extracranial malformations such as congenital diaphagmatic hernia. We reviewed 2885 fetal MRI examinations. Fetal computed tomography is gradually replacing plain maternal abdominal radiography. We examined 90 CT films for fetal bone malformations.
Bulletin de l'Académie nationale de médecine 12/2008; 192(8):1559-73; discussion 1573-4. · 0.25 Impact Factor
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ABSTRACT: 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).
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.
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.
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.
Fetal Diagnosis and Therapy 10/2008; 24(4):389-94. · 1.05 Impact Factor
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ABSTRACT: 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).
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.
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.
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.
Journal of Clinical Ultrasound 07/2008; 36(5):273-8. · 0.81 Impact Factor
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ABSTRACT: 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).
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.
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.
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.
American Journal of Roentgenology 06/2008; 190(5):1216-9. · 2.78 Impact Factor
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ABSTRACT: 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).
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.
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).
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.
Journal of Pediatric Surgery 05/2008; 43(4):606-11. · 1.45 Impact Factor
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Lekbir Baala,
Sophie Audollent,
Jéléna Martinovic,
Catherine Ozilou,
Marie-Claude Babron,
Sivanthiny Sivanandamoorthy,
Sophie Saunier,
Rémi Salomon,
Marie Gonzales,
Eleanor Rattenberry, [......], Yves Dumez,
Fiona MacDonald,
Arnold Munnich,
Stanislas Lyonnet,
Marie-Claire Gubler,
Emmanuelle Génin,
Colin A Johnson,
Michel Vekemans,
Férechté Encha-Razavi,
Tania Attié-Bitach
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ABSTRACT: Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1-MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS.
The American Journal of Human Genetics 08/2007; 81(1):170-9. · 10.60 Impact Factor
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ABSTRACT: 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).
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.
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.
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.
American journal of obstetrics and gynecology 12/2006; 195(6):1720-8. · 3.28 Impact Factor
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ABSTRACT: Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The purpose of this study was to develop a molecular method to characterise both paternal and maternal CFTR alleles in DNA from circulating fetal cells (CFCs) isolated by ISET (isolation by size of epithelial tumour/trophoblastic cells).
The molecular protocol was defined by developing the F508del mutation analysis and addressing it both to single trophoblastic cells, isolated by ISET and identified by short tandem repeats (STR) genotyping, and to pooled trophoblastic genomes, thus avoiding the risk of allele drop out (ADO). This protocol was validated in 100 leucocytes from F508del carriers and subsequently blindly applied to the blood (5 mL) of 12 pregnant women, at 11 to 13 weeks of gestation, whose offspring had a 1/4 risk of CF. Ten couples were carriers of F508del mutation, while two were carriers of unknown CFTR mutations.
Results showed that one fetus was affected, seven were heterozygous carriers of a CFTR mutation, and four were healthy homozygotes. These findings were consistent with those obtained by chorionic villus sampling (CVS).
Our data show that the ISET-CF approach affords reliable prenatal diagnosis (PND) of cystic fibrosis and is potentially applicable to pregnant women at risk of having an affected child, thus avoiding the risk of iatrogenic miscarriage.
Prenatal Diagnosis 11/2006; 26(10):906-16. · 2.11 Impact Factor
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ABSTRACT: The objective of this study is to describe a prognostic classification for prenatally diagnosed sacrococcygeal teratoma (SCT).
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.
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.
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.
Journal of Pediatric Surgery 10/2006; 41(9):1517-21. · 1.45 Impact Factor
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Mireille Lacoste,
Yi Cai,
Liliane Guicharnaud,
Françoise Mounier, Yves Dumez,
Raymonde Bouvier,
Frédérique Dijoud,
Marie Gonzales,
Jane Chatten,
Anne-Lise Delezoide, [......],
Anne Marie Frances,
Farida Daïkha-Dahmane,
Aurore Coulomb,
Thomas J Neuhaus,
Bernard Foliguet,
Pierre Chenal,
Pascale Marcorelles,
Jean Marie Gasc,
Pierre Corvol,
Marie Claire Gubler
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ABSTRACT: Renal tubular dysgenesis is a clinical disorder that is observed in fetuses and characterized by the absence or poor development of proximal tubules, early onset and persistent oligohydramnios that leads to the Potter sequence, and skull ossification defects. It may be acquired during fetal development or inherited as an autosomal recessive disease. It was shown recently that autosomal recessive renal tubular dysgenesis is genetically heterogeneous and linked to mutations in the genes that encode components of the renin-angiotensin system. This study analyzed the clinical expression of the disease in 29 fetus/neonates from 18 unrelated families and evaluated changes in renal morphology and expression of the renin-angiotensin system. The disease was uniformly severe, with perinatal death in all cases as a result of persistent anuria and hypoxia related to pulmonary hypoplasia. Severe defects in proximal tubules were observed in all fetuses from 18 gestational weeks onward, and lesions also involved other tubular segments. They were associated with thickening of the renal arterial vasculature, from the arcuate to the afferent arteries. Renal renin expression was strikingly increased in 19 of 24 patients studied, from 13 families, whereas no renal renin was detected in four patients from three families. Angiotensinogen and angiotensin-converting enzyme were absent or present in only small amounts in the proximal tubule, in correlation with the severity of tubular abnormalities. No specific changes were detected in angiotensin II receptor expression. The severity and the early onset of the clinical and pathologic expression of the disease underline the major importance of this system in fetal kidney function and development in humans. The identification of the disease on the basis of precise histologic analysis and the research of the genetic defect now allow genetic counseling and early prenatal diagnosis.
Journal of the American Society of Nephrology 09/2006; 17(8):2253-63. · 9.66 Impact Factor
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ABSTRACT: 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).
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.
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)]).
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.
Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 07/2006; 25(6):701-9. · 1.25 Impact Factor
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Françoise Muller,
Sophie Dreux,
Pascal Vaast, Yves Dumez,
Israel Nisand,
Yves Ville,
Pierre Boulot,
Jean Guibourdenche,
Marc Althusser,
Gérard Blin,
Evelyne Gautier,
Catherine Lespinard,
Franck Perrotin,
Patrice Poulain,
Marie-France Sarramon
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ABSTRACT: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease during the first year of life. There is no specific ultrasound prenatal diagnosis and no identified genetic locus. The value of amniotic fluid digestive enzyme assay and fetal urine biochemistry in the prediction of MMIHS was analysed.
Retrospective study of 14 MMIHS cases. Amniotic fluid digestive enzymes and fetal urine biochemistry were compared in MMIHS and megabladder (63 and 264 cases respectively).
Abnormal amniotic fluid digestive enzyme profile (vomiting of bile or digestive secretion leakage) was observed in 8/10 MMIHS cases. These profiles were observed in 7/63 controls; 80% sensitivity (95%CI = 55%-100%); 89% specificity (95%CI = 81%-96%). Fetal urinalysis was normal in 12/12 MMIHS cases except high calcium (>0.6 mmol/l). This profile was observed in 33/264 megabladder control cases; 100% sensitivity; 98.7% specificity (95%CI = 83.5%-91.5%).
For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis.
Prenatal Diagnosis 03/2005; 25(3):203-9. · 2.11 Impact Factor
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ABSTRACT: The purpose of this study was to evaluate perinatal outcome after thoracoamniotic shunting for fetal pleural effusions with hydrops.
This was a retrospective study.
Shunting was performed immediately after diagnosis and was successful in all 54 of the cases that were attempted. There were 7 pregnancy terminations, 9 in utero deaths, and 38 live births, of which 7 children died in the neonatal period and 31 children survived. Among the liveborn infants, 27 infants were delivered preterm (71%), of whom 7 infants (15%) had preterm premature rupture of membranes and 4 infants (8.5%) had chorioamnionitis. Perinatal death (23/54 infants; 43%) was related to underlying anomalies (7 cases), pulmonary hypoplasia (5 cases), chorioamnionitis (2 cases), or treatment failure for unknown reasons (9 cases). All 31 survivors had chylothorax; for 28 of the survivors, the chylothorax was primary, and for 3 survivors, the chylothorax was the result of right congenital diaphragmatic hernia, pulmonary sequestration, or Noonan syndrome.
After the shunting, pleural effusion with hydrops has a 57% survival rate; premature delivery is the leading source of morbidity.
American Journal of Obstetrics and Gynecology 01/2005; 191(6):2047-50. · 3.47 Impact Factor
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Clinical Chemistry 01/2005; 51(1):242-4. · 7.91 Impact Factor
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ABSTRACT: Fetal distress is a frequent complication of gastroschisis, and could be screened for by home monitoring, as many pregnant women expecting an affected child live far away from a specialized perinatal center. This study was undertaken to audit a policy of fetal home monitoring (FHM) to achieve early detection of fetal heart rate (FHR) abnormalities in gastroschisis.
Daily FHM was started at a median age of 30 weeks in 31 pregnant women referred following prenatal diagnosis of isolated gastroschisis. Monitoring was considered abnormal in cases with decelerations, tachycardia, bradycardia, decreased baseline variability or absence of accelerations. When an ominous FHR was detected and confirmed by in-hospital monitoring, an emergency cesarean section (C-section) was indicated. Otherwise, an elective C-section was planned.
In 20 cases FHM remained normal. There were 16 elective C-sections, two emergency C-sections for FHR abnormalities detected by in-hospital monitoring, and two spontaneous premature vaginal deliveries. In 11 cases, an abnormal FHM was detected. There was one intrauterine death with acute ischemic necrosis of the large bowel. The other abnormalities consisted of decreased baseline variability with tachycardia (n = 7) or without tachycardia (n = 3) and were confirmed by in-hospital follow-up in nine cases, leading to emergency C-section.
The high rate of abnormal FHR patterns picked up by FHM in gastroschisis led to a rate of emergency C-sections of 9/31. However, this strategy failed to prevent one intrauterine death due to acute bowel necrosis.
Acta Obstetricia Et Gynecologica Scandinavica 12/2004; 83(11):1061-4. · 1.77 Impact Factor
