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Yves Dumez

Publications and source records attributed to Yves Dumez.

At least 19 recordsLinked to original sources
PubMed2006

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.

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.

Anuria↗
PubMed2006

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.

Blood Vessels↗
PubMed2006

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.

OBJECTIVES: 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). METHODS: 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: 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). CONCLUSION: 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.

Alleles↗
PubMed2006

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.

Female↗
PubMed2006

[Vascular Ehlers-Danlos syndrome].

The vascular type of Ehlers-Danlos syndrome (EDS) is a rare genetic disease transmitted as an autosomal dominant trait. It is distinguished from other forms of EDS by its unstable acrogeric morphotype and by vascular, gastrointestinal, and obstetrical complications. Diagnosis is based on various clinical signs, noninvasive imaging, and on the identification of a mutation of the COL3A1 gene, which provides diagnostic certainty but has a sensitivity of only 61%. When two major diagnostic criteria are present, a genetic test should be proposed, performed and its result presented in a multidisciplinary group. The precautionary principle requires that preventive measures be implemented when the diagnosis is suspected. All artery puncture, surgery, and gastrointestinal and uterine endoscopy are contraindicated, permissible only in life-threatening emergencies. Straining against a closed glottis and all other situations or drugs likely to raise blood pressure must be avoided. Contraception must be discussed to avoid pregnancy during the diagnostic period. Arterial lesions suggestive of the disease include dissecting aneurysms of the internal carotid and iliac arteries and of the anterior visceral branches of the abdominal aorta, fusiform aneurysms of the splenic artery, and early onset nontraumatic direct carotid-cavernous fistulae. Early-onset varicose veins, spontaneous peritonitis or unusually important perineal lesions after giving birth should also attract the physician's attention. Psychological treatment and support of patients and their families is essential, to help them both to live with their disease and to deal with the information and screening issues. The prognosis of Ehlers-Danlos syndrome, vascular type, is grim but there is wide interindividual variability and life expectancy is best among patients receiving regular follow-up. Management by an experienced multidisciplinary team, implementation of drastic prevention measures and, depending on the results of the BBEST study, the possible prescription of beta-blockers should help to reduce the risk of complications and justify hope for a real improvement in prognosis in the near future.

Adult↗
PubMed2006

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.

Diagnosis, Computer-Assisted↗
PubMed2005

Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis.

OBJECTIVES: 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. METHODS: 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). RESULTS: 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%). CONCLUSION: For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis.

Adolescent↗
PubMed2004

Sensitivity and specificity of prenatal features of physiological shunts to predict neonatal clinical status in transposition of the great arteries.

BACKGROUND: Although prenatal diagnosis of transposition of the great arteries (TGA) reduces neonatal mortality, the preoperative course can be complicated in infants with a restrictive foramen ovale (FO) or a ductus arteriosus (DA) constriction. We sought to determine the specificity and sensitivity of prenatal features of physiological shunts in predicting postnatal clinical status in prenatally diagnosed TGA in babies delivered in a tertiary care center providing all facilities for neonatal urgent care. METHODS AND RESULTS: The outcomes of 130 fetuses with TGA were reviewed over a period of 5.5 years. Restriction of the FO and/or constriction of the DA could be analyzed in 119/130 fetuses at 36+/-2.7 weeks of gestation. Twenty-four out of 119 had at least 1 abnormal shunt (23 FO, 5 DA, and 4 both). Thirteen of 130 neonates had profound hypoxemia (PaO2<25 mm Hg) and metabolic acidosis (pH <7.15) in the first 30 minutes and required immediate balloon atrioseptostomy. Two who had abnormal FO and DA died despite aggressive resuscitation. The specificity and sensitivity of the fetal echo in predicting neonatal emergency were 84% and 54%, respectively. The specificity and sensitivity of a combination of restrictive FO and DA constriction were 100% and 31%, respectively. CONCLUSIONS: Restriction of the FO and/or of the DA has a high specificity to predict the need for emergency neonatal care in fetuses with TGA, but the sensitivity is too low to detect all high-risk fetuses. Exceptional procedures should be considered for fetuses that have a combination of restrictive FO and DA constriction.

Abnormalities, Multiple↗
PubMed2004

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

Smith-Lemli-Opitz (SLO) syndrome or RSH syndrome is an autosomal recessive multiple malformation, and mental retardation syndrome ascribed to 7-dehydrocholesterol reductase deficiency, and usually diagnosed in the early postnatal period. Reviewing a series of 30 cases of SLO, we have investigated the variable antenatal expression of the disorder. Intrauterine growth retardation (IUGR) was the most frequent detectable trait (20/30). IUGR was either isolated (9/20) or associated with at least one other anomaly (11/20), including nuchal edema, renal, cardiac, cerebral malformations, genital anomalies, or polydactyly. In this last group, 3/11 presented with multiple malformations (> or =3 anomalies). In 5/30 cases, isolated nuchal edema (3/30), and isolated cardiac (1/30) or renal malformations (1/30) were the only detectable anomalies. Ultrasound findings were considered normal in 5/30 cases and were abnormal in 25/30 cases (83%), but early detection of multiple malformations was rare (3/30, 10%). We suggest giving consideration to a more systematic sterol analysis when dealing with IUGR, especially when associated anomalies are detected.

Female↗
PubMed2004

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.

Adult↗
PubMed2004

Fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys.

OBJECTIVES: To evaluate fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys. Predicting post-natal renal function is crucial to the prenatal evaluation of fetal nephropathies. Prenatal ultrasound can identify terminal renal failure, but is not sensitive enough to identify infants whose post-natal renal function will be impaired. Fetal serum ss2-microglobulin and cystatin C are potential predictors of post-natal renal function. METHODS: Fifty-four prenatally diagnosed cases of bilateral nephropathy were retrospectively reviewed. Final diagnosis was established using histological or post-natal findings: renal hypoplasia (n = 7), cystic dysplasia (n = 9), autosomal dominant polycystic kidney disease (ADPKD; n = 8) or autosomal recessive polycystic kidney disease (ARPKD; n = 22) and transient sonographic abnormalities (n = 8). Fetal serum ss2-microglobulin and cystatin C were assayed respectively in 54 and 38 cases. The prognostic value of these markers was assessed in terms of the post-natal outcome. RESULTS: In bilateral kidney hypoplasia and cystic dysplasia, ss2-microglobulin and cystatin C were significantly (p < 0.0001 and p < 0.02 respectively) higher than in the normal control group. In hyperechogenic fetal kidneys (ARPKD, ADPKD and transient sonographic abnormalities), these markers were not different from controls. However, whereas normal values cannot exclude renal failure, abnormal values predict post-natal renal failure. CONCLUSIONS: In bilateral renal hypoplasia and dysplasia, fetal serum ss2-microglobulin and cystatin C are good markers for post-natal renal function. However, in bilateral renal hyperechogenic enlargement, abnormal values are associated with poor post-natal renal function, but normal values cannot preclude renal failure.

Cystatins↗
PubMed2004

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.

OBJECTIVES: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large-scale deletion encompassing exons 4 to 10 of the NEMO gene. The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel test for detection of the prevalent NEMO deletion. METHODS: We devised a sensitive and reproducible multiplex PCR test enabling simultaneous amplification of the deleted and wild-type NEMO genes in IP female individuals. RESULTS: Combination of this DNA test, with Xq28 linkage analysis and X-inactivation pattern study enabled us to offer an IP prenatal diagnosis in 15 of the 16 couples at a 50% risk to have an affected offspring. CONCLUSION: A current approach to IP prenatal diagnosis is proposed on the basis of the previously mentioned molecular tools.

DNA Mutational Analysis↗
PubMed2004

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.

Adrenal Glands↗
PubMed2004

Nonimmune fetal ascites: a series of 79 cases.

OBJECTIVE: The purpose of this study was to analyze the precision of ultrasonography in defining the cause and prognosis in fetal ascites. STUDY DESIGN: We conducted a retrospective study of 79 cases of fetal ascites. RESULTS: The mortality rate was 57% overall and ranged from 100% (7/7 cases) for metabolic storage disease to 0% (0/3 cases) in chylous ascites. Ascites before 24 weeks of gestation or combined with fetal hydrops indicates poor prognosis (respectively, 78.6% vs 45% mortality rate after 24 weeks; P<.01; and 77% vs 50.8% without hydrops; P<.02). Ascites was organic in 45 cases, infectious in 13 cases, idiopathic in 12 cases, and genetic in 9 cases. The cause was defined ultrasonographically in 28 of the 45 organic ascites and in 8 of the 25 isolated ascites. Urinary cause was the most frequent and the most successfully specified cause (14/15 cases). CONCLUSION: Routine ultrasonography detects fetal ascites, but the cause is extremely variable and difficult to specify. When associated with fetal hydrops, the prognosis is poor.

Adolescent↗
PubMed2004

Thoracoamniotic shunting for fetal pleural effusions with hydrops.

OBJECTIVE: The purpose of this study was to evaluate perinatal outcome after thoracoamniotic shunting for fetal pleural effusions with hydrops. STUDY DESIGN: This was a retrospective study. RESULTS: 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. CONCLUSION: After the shunting, pleural effusion with hydrops has a 57% survival rate; premature delivery is the leading source of morbidity.

Amniotic Fluid↗
PubMed2004

Fetal home monitoring for the prenatal management of gastroschisis.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Adolescent↗
PubMed2004

Three-dimensional ultrasonographic assessment of fetal lung volume as prognostic factor in isolated congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the potential of three-dimensional ultrasound to predict outcome in congenital diaphragmatic hernia. DESIGN: Prospective observational study. SETTING: Tertiary care centre. POPULATION: Twelve cases of isolated congenital diaphragmatic hernia (11 left-sided, 1 right-sided) and 109 controls. METHODS: Fetal lung volume was assessed by three-dimensional ultrasound using the technique of rotation of the multiplanar imaging. In the control fetuses, a logistic transformation was performed to correlate fetal lung volume with gestational age, and the confidence interval was obtained with a bootstrap resampling. A mathematical equation was then obtained allowing calculation of the expected fetal lung volume as a function of gestational age. In fetuses with congenital diaphragmatic hernia, the observed/expected lung volume ratio was compared with postnatal outcome. MAIN OUTCOME MEASURES: Neonatal mortality and pulmonary hypoplasia, which was defined as lung/body weight ratios less than 0.012. RESULTS: The expected fetal lung volume was derived from the mathematical equation: Fetal lung volume (mL) = exp (4.72/(1 + exp ((20.32 - gestational age in weeks)/6.05))). The observed/expected fetal lung volume ratio was significantly lower in the congenital diaphragmatic hernia group (median: 0.34, range: 0.16-0.66), than in the control group (median: 1.02, range: 0.62-1.97, P < 0.0001). The distribution of this ratio was significantly downshifted in the infants with congenital diaphragmatic hernia who died (median: 0.19, range: 0.18-0.66) compared with survivors (median: 0.44, range: 0.36-0.66, P= 0.04). The observed/expected fetal lung volume ratio was also correlated with the postmortem lung/body weight ratio. CONCLUSION: In isolated congenital diaphragmatic hernia, fetal lung volume measurement by three-dimensional ultrasound is a potential predictor for pulmonary hypoplasia and postnatal outcome.

Female↗