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Biomedical subjects

M Dommergues

Publications and source records attributed to M Dommergues.

At least 19 recordsLinked to original sources
PubMed2006

[Obstetrical management of patients at risk of neonatal lupus syndrome: review of the literature].

Fetuses and infants of women with anti-SSA/Ro and anti-SSB/La antibodies are at risk of neonatal lupus syndrome, featuring skin lesions, hematological and hepatic disorders, and congenital heart block (CHB) in the absence of severe cardiac malformation. The prevalence of CHB in newborns of anti-SSA/Ro positive women with known connective tissue disease is 1 to 2% and the risk of recurrence ranges from 10 to 17%. CHB is definitive and is associated with significant morbidity (pacemaker must be implanted in 2/3 of cases) and mortality (16 to 19%). Myocardial involvement may either be associated or appear subsequently. Other manifestations are discussed. For anti-SSA/Ro positive pregnant women, echocardiograms should be performed every 2 weeks from 16 to 24 weeks of gestation, and every week in case of past history of CHB. Electrocardiogram should be performed in the first days of life for all children to detect incomplete CHB. Therapy for CHB detected in utero is based on fluorinated steroids, especially betamethasone. Its efficiency is variable.

Antibodies, Antinuclear↗
PubMed2006

[Emergency thoraco amniotic shunting in cases with compressive pleural effusion with hydrops: A retrospective study of 60 cases].

OBJECTIVES: To study perinatal outcome following thoraco-amniotic shunting for fetal pleural effusions with hydrops. MATERIALS AND METHODS: Retrospective study (1984-2004) to evaluate a policy of emergency thracoamniotic shunting in hydropic fetuses with suspected chylothorax, on the basis of the rationale that mediastinal compression could lead to acute fetal distress. RESULTS: Shunting was performed immediately following diagnosis, and was successful in all 60 cases attempted. There were 7 pregnancy terminations, 10 in utero deaths, and 43 live births, of which 7 children died in the neonatal period and 36 survived (33 without sequels). Among the liveborn, 26 were delivered preterm (72%), of which 7 (19%) had preterm premature rupture of membranes and 4 (11%) had chorioamnionitis. Perinatal death (24/60, 40%) was related to underlying anomalies (7 cases), pulmonary hypoplasia (5 cases), chorioamnionitis (2 cases), or treatment failure for unknown reasons (10 cases). All 36 survivors had chylothorax, 33 of which were primary, and 3 were secondary to right congenital diaphragmatic hernia, pulmonary sequestration, or Noonan syndrome. CONCLUSION: Following shunting, pleural effusion with hydrops has survival rate >50%, but still have a high rate of morbidity and mortality.

Amniotic Fluid↗
PubMed2005

Gorlin syndrome presenting as prenatal chylothorax in a girl.

Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition with an estimated prevalence of 1:57 000. GS is associated with congenital malformations and predisposition to neoplasms. The main features observed in patients with GS are basal cell carcinomas, odontogenic keratocysts, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar epidermal cysts, facial dysmorphism, and cerebral falx calcification. More than 100 other clinical manifestations have also been described in the literature including ovarian fibroma, enlarged cerebral ventricles, and lymphatic as well as chylous mesenteric cysts. The Patched (PTCH) gene is responsible for GS when mutated. Here, we report on a prenatal diagnosis of GS in a girl with a chylothorax, a previously unreported feature in GS. We discuss the clinical features observed in this family and we comment on the molecular studies that allowed us to describe a previously unreported Patched gene mutation.

Adult↗
PubMed2005

Prenatal diagnosis of pulmonary sequestration using three-dimensional power Doppler ultrasound.

OBJECTIVE: To investigate the contribution of three-dimensional power Doppler ultrasound to the prenatal diagnosis of pulmonary sequestration. METHODS: Prenatal three-dimensional power Doppler ultrasound was used to screen for an abnormal pulmonary blood supply in eight fetuses with hyperechogenic lung lesions and to image the pulmonary blood supply in 50 normal controls. A comparison was made with postnatal findings. RESULTS: Postnatally the eight pulmonary lesions were found to be an isolated pulmonary sequestration (n = 3), a microcystic congenital adenomatoid malformation (n = 4), and a mixed (macrocystic and microcystic) congenital adenomatoid malformation (n = 1). Prenatal three-dimensional power Doppler ultrasound demonstrated an abnormal blood supply in all cases of pulmonary sequestration and in none of the other cases. Among the three cases that turned out to be pulmonary sequestrations, conventional two-dimensional ultrasound failed to identify the feeding vessel in one case and identified it at a later stage of gestation than did three-dimensional power Doppler in the other two. CONCLUSION: Prenatal three-dimensional power Doppler ultrasound may be useful in identifying the feeding vessel and thus establishing the diagnosis of pulmonary sequestration in the presence of a hyperechogenic pulmonary lesion, allowing its differentiation from congenital cystic adenomatoid malformation.

Adolescent↗
PubMed2005

Accuracy of fetal lung volume assessed by three-dimensional sonography.

OBJECTIVE: To determine the accuracy and precision of prenatal three-dimensional (3D) ultrasound in estimating fetal lung volume using the rotational multiplanar technique (VOCAL) by comparing it to postmortem volume measurements. METHODS: Fetal lung volume was measured during 3D ultrasound examination using a rotational multiplanar technique in eight cases of congenital diaphragmatic hernia (CDH) (six left and two right-sided) and in 25 controls without pulmonary malformation, immediately before termination. Prenatal 3D sonographic estimates of fetal lung volume were compared with postmortem measurement of fetal lung volume achieved by water displacement. RESULTS: The intraclass correlation coefficient of fetal lung volume estimated by 3D ultrasound and measured at postmortem examination was 0.95 in CDH cases and 0.99 in controls. Based on Bland-Altman analysis, the bias, precision and limits of agreement were, respectively, 0.35 cm(3), 1.46 cm(3) and between -2.51 and + 3.21 cm(3) in cases with CDH and 0.08 cm(3), 2.80 cm(3) and between -5.41 and + 5.57 cm(3) in controls. The mean relative error of 3D ultrasound fetal lung volume measurement was -7.19% (from -42.70% to + 18.11%) in CDH cases and -0.72% (from -30.25% to + 19.22%) in controls, while the mean absolute error of 3D ultrasound fetal lung volume measurement was 1.40 (range, 0.71-2.52) cm(3) and 2.12 (range, 0.05-4.98) cm(3), respectively. Accuracy of 3D ultrasound for measuring fetal lung volumes was 84.86 (range, 57.30-99.48)% in cases with CDH and 91.38 (range, 69.75-99.45)% in controls. The mean intraobserver variability for lung volume estimated by 3D ultrasound was 0.28 cm(3) in controls and 0.17 cm(3) in CDH cases. CONCLUSION: Prenatal 3D ultrasound can estimate accurately fetal lung volume using the rotational multiplanar technique for volume measurements (VOCAL), even in fetuses with very small lungs, such as cases with isolated CDH.

Abortion, Legal↗
PubMed2005

Delayed surgery in pericardial teratoma with neonatal hydrops.

Timing of neonatal surgery in cases of pericardial teratoma with hydrops is not standardised. We report two cases of hydropic premature newborns with pericardial teratoma in which surgery was delayed until respiratory and haemodynamic stabilisation. Mature teratoma was removed on day 3. The newborns were weaned from the ventilator on postoperative day 5 and 10, respectively. Both infants were doing well at 18 months, suggesting delayed surgery may be feasible and effective.

Adult↗
PubMed2004

[Strategies of antenatal diagnosis and management of pathologies related to multiple pregnancies].

In the first trimester, ultrasound is crucial to screen for aneuploidies based on nuchal translucency, to diagnose major birth defects, and to establish chorionicity. Indeed prenatal diagnosis strategies as well as obstetrical management options are largely based on placental type. In the second trimester, maternal serum screening is not as effective, and ultrasound screening is more difficult in twins than in singletons. When a severe abnormality in found in one twin, selective termination of pregnancy may be considered. This technique is safe in dichorionic twins, but hazardous in monochorionic pregnancies. Selective termination in dichorionic twins is safer in the first trimester, underscoring the need for early prenatal diagnosis in twins. Monochorionic twin pregnancies carry specific risks, such as the twin-to-twin transfusion syndrome, which can be treated by endoscopic photo-coagulation of intertwin anastomoses in the severe early onset cases, or by amnioreduction in milder cases.

Chorionic Villi Sampling↗
PubMed2003

Sonographic prenatal diagnosis of central nervous system abnormalities.

INTRODUCTION: Over the past 20 years, the spectrum of neonatal neurological malformations has changed due to the diffusion of ultrasound, performed either routinely or as required by maternal alpha-fetoprotein screening or history. DISCUSSION: We review and illustrate the potential of ultrasound for the prenatal diagnosis of abnormalities in size or shape of the skull (macrocephaly, microcephaly, craniostenosis), neural tube defects, ventriculomegaly, hydrocephalus, posterior fossa defects (abnormalities in the size of the cisterna magna, cerebellar abnormalities), midline abnormalities (holoprosencephaly, abnormalities of the corpus callosum), ischemic lesions and hemorrhage, tumours, and focalized hyperechogenic images. The limits of fetal ultrasound screening and of the various diagnostic strategies implemented when a fetal brain abnormality is suspected are discussed. Overall, gross lethal abnormalities such as anencephaly or major hydrocephaly are accessible to prenatal sonographic screening, and nearly always result in termination of the pregnancy. However, hydrocephaly may progress late in gestation and remain undiscovered unless a third trimester ultrasound is performed. A majority of cases with myelomeningocele are diagnosed prenatally, resulting either in termination of the pregnancy or in neonatal management. A growing number of more subtle abnormalities, including midline or posterior fossa abnormalities can be spotted by fetal ultrasound, but their postnatal outcome cannot always be predicted accurately, despite the use of fetal magnetic resonance imaging. In such cases, a trans-disciplinary approach involving perinatologists, pediatric radiologists, neuropathologists, neurosurgeons or neurologists familiar with neonates is crucial to counseling the parents. Some brain abnormalities are still extremely difficult or even impossible to diagnose in utero despite advances in sonographic imaging. This is due to the fact that severe neurological impairment may result from conditions that do not affect substantially affect the morphology of the brain, and that major structural abnormalities may develop late in gestation, and thus remain undetected at second trimester ultrasound. CONCLUSION: Ultrasound screening identifies a growing number of central nervous system abnormalities, resulting in substantial changes in the neonatal presentation of neurological congenital abnormalities.

Central Nervous System Diseases↗
PubMed2003

Fetal hypertension: an insight into the pathogenesis of the twin-twin transfusion syndrome.

OBJECTIVES: To investigate if systemic hypertension occurs in fetuses with twin-to-twin transfusion syndrome (TTTS). METHODS: We conducted an observational cohort study in a tertiary care centre in 23 pregnant women with TTTS. Polyhydramnios stuck twin sequence occurred at a median gestational age of 22 weeks (range 15-27). Biventricular myocardial hypertrophy was diagnosed in 22/23 recipient fetuses. In cases with atrioventricular valve regurgitation (AVR), it was possible to estimate the fetal systolic systemic blood pressure by ultrasound, on the basis of the simplified Bernouilli equation. The diagnosis of fetal hypertension (FHT) was made when the estimated systolic arterial pressure was equal to or above 1.6-fold the expected value. RESULTS: In 10 pregnancies (group A), fetal blood pressure could be assessed in recipients with AVR. The maximum velocities ranged from 2.9 to 5 m/s, leading to estimates of systemic fetal arterial pressure from 37 to 104 mmHg, that is, 1.6- to 2.8-fold the expected values. In 13 pregnancies (group B), fetal blood pressure could not be assessed in the absence of AVR. In group A, perinatal death (16/20) and hydrops (7/20) were significantly more frequent than in group B (8/26 and 1/26 respectively). CONCLUSION: Fetal systemic hypertension may occur in recipient twins and could play a role in the pathophysiology of TTTS.

Cohort Studies↗
PubMed2003

Pericardial teratoma complicated by hydrops: successful fetal therapy by thoracoamniotic shunting.

Pericardial teratoma is a potentially curable lesion that may become life threatening when it induces mediastinal compression and fetal hydrops. So far, cases with fetal hydrops have been managed by elective delivery or pericardial needle decompression. We report a case in which pericardial teratoma resulted in fetal hydrops. Following transpleural needling of the fetal pericardium at 29 weeks and 6 days, pericardial effusion decreased but hydrops persisted, while major unilateral pleural effusion appeared. A thoracoamniotic shunt was placed at 30 weeks and 5 days. Hydrops resolved, although incompletely. The baby was delivered at 32 weeks and was operated upon on day 3. This observation suggests that fetal hydrops associated with pericardial teratoma may improve following thoracoamniotic shunting. Fetal therapy may limit the risks of respiratory distress arising from the combined effect of airways compression and lung immaturity.

Adult↗
PubMed2003

Fetal thoracoamniotic shunting as the only treatment for pulmonary sequestration with hydrops: favorable long-term outcome without postnatal surgery.

Although it is established that bronchopulmonary sequestration complicated by fetal hydrops carries a high risk of perinatal mortality, prenatal management remains controversial. Therapeutic options include immediate delivery, medical therapy based on an inotropic regimen, alcohol ablation of the vascular pedicle, open fetal surgery, or thoracoamniotic shunting of fetal pleural effusions. We report a case of pulmonary sequestration with hydrothorax and fetal hydrops which was successfully treated by a single fetal thoracoamniotic catheter drainage. Following emergency catheter placement, hydrothorax and hydrops decreased dramatically. The sequestration gradually disappeared postnatally, and long-term outcome remained normal without any postnatal therapy. Based on this observation, the natural history of pulmonary sequestration and prenatal management options are reviewed.

Adult↗
PubMed2003

[Results of prenatal management of fetuses with supraventricular tachycardia. A series of 66 cases].

OBJECTIVE: To describe the prenatal management and outcome of a series of 66 fetuses with supraventricular tachycardia (SVT). MATERIAL AND METHODS: The perinatal data of 66 fetuses with SVT were retrospectively studied from January 1990 to December 2000. Junctional tachycardia was found in 50 fetuses and atrial flutter was found in 16 fetuses. Two groups were studied depending on the absence (n=40) or the presence of hydrops (n=26) at the time of the diagnosis. All fetuses but one were treated prenatally via the mother. Anti-arrhythmic drugs used were: digoxin, sotalol, flecainide or amiodarone. RESULTS: Group of fetuses with no hydrops: digoxin was used in 32 cases and allowed 26 fetuses to be converted to sinus rhythm (80%). One intra uterine death (IUD) occurred in this group. Hydropic fetuses group: nine fetuses were converted to sinus rhythm using either flecainide (n=7) or amiodarone (n=2) as first line therapy, whilst digoxin alone or in association with sotalol failed to restore sinus rhythm in all cases. After first line therapy, SVT persisted in 10 fetuses. Nine fetuses received amiodarone alone or in association with digoxin as second line therapy, five of whom were converted to sinus rhythm. Among the 18 alive neonates treated by amiodarone in utero, three presented elevated thyroid stimulating hormone at day 3-4 and required thyroid hormonal substitution therapy for 2-6 months with normal outcome.

Amiodarone↗
PubMed2002

[What's new in fetal medicine?].

One of the major progress in fetal medicine in recent years is the increased sensitivity of sonographic screening for foetal malformations, due to technical improvement but also to a better training of professionals. Screening for chromosomal abnormalities is no longer based on maternal age alone. Second trimester maternal serum screening (MSS) is increasingly used: thus in 1997, 376,798 MSS tests were performed in France, yielding to the prenatal diagnosis of 391 cases of Down's syndrome. First trimester sonographic nuchal translucency measurement (NTM) is an effective screening method when performed under stringent conditions. Quality control however, is more difficult to implement on a large scale for NTM than for MSS. Performing screening tests sequentially carries a danger of generating an unnecessarily high number of amniocentesis, which may be obviated by a rational calculation of an individual's risk to carry an aneuploid baby. First trimester MSS is expected to become standard practice in the next years, probably in combination with NTM. Cytogenetics underwent substantial innovations recently, due to the ever-increasing use of molecular cytogenetics. FISH techniques allow: 1) precise analysis of unexpected structural chromosomal abnormalities diagnosed by routine amniocentesis, 2) rapid screening of the most common aneuploidies by amniocentesis when a fetal structural anomaly is detected by 3rd trimester ultrasound, 3) diagnosis of micro-deletions suspected by fetal ultrasound or post-mortem. Prenatal diagnosis by maternal blood sampling and fetal cells or DNA analysis is now part of routine clinical practice in selected cases, such as fetal sexing in families affected by an X linked disease. Thus one can select those pregnancies eligible to invasive prenatal diagnosis. Pre implantation diagnosis, which has not been legal in France until 1999 is now increasingly used as an alternative to first trimester diagnosis. As for fetal therapy, a major recent breakthrough is the prenatal management of twin to twin transfusion syndrome by either amnioreduction or laser coagulation of inter-twin vascular shunts. In addition, new pathophysiologic concepts involving the renin angiotestin system could lead to further therapeutic innovations. A European randomised trial is now being completed to establish the respective indications of drainage and Laser. All this underscores that fetal medicine is no longer solely a succession of dramatic technical breakthroughs, but is entered an era of large-scale diffusion that requires evidence based evaluation.

Adult↗
PubMed2002

Middle cerebral artery Doppler in fetuses with transposition of the great arteries.

OBJECTIVE: A previous anthropometric study has shown that neonates with transposition of the great arteries have a smaller head circumference and intracranial volume, which may be related to a lower oxygen content of blood delivered to the head and upper extremities. The aim of this study was to compare Doppler blood flow velocity waveforms in fetuses with transposition of the great arteries with those in healthy fetuses. METHODS: Doppler blood flow velocimetry was performed in the middle cerebral artery, the umbilical artery, the aorta and the ductus venosus in a consecutive series of 23 fetuses with transposition of the great arteries between 36 and 38 weeks' gestation. The control group consisted of 40 healthy fetuses matched for gestational age. RESULTS: There was no significant difference in pulsatility indices in the umbilical artery, the aorta and the ductus venosus between fetuses with transposition of the great arteries and controls. The median middle cerebral artery pulsatility index in the group with transposition of the great arteries was 1.37 (range, 1.10-2.02) and was significantly lower than that in the control group (median, 1.68; range, 1.46-2.04) (P < 0.001, Mann-Whitney test). CONCLUSIONS: The lower pulsatility indices observed in the middle cerebral artery of fetuses with transposition of the great arteries may reflect a trend towards cerebral vasodilation. This phenomenon could be an indicator of hypoxemia and/or hypercapnia restricted to areas perfused by the preisthmus aorta and be related to the characteristics of the circulation in fetuses with transposition of the great arteries.

Blood Flow Velocity↗
PubMed2002

Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

OBJECTIVE: To study perinatal and long term outcome following prenatal diagnosis of hyperechogenic kidneys. DESIGN: Prospective observational cohort study. SETTING: The Maternité Port-Royal Hôpital Cochin and at the Departments of Obstetrics and Paediatric Nephrology, Necker Enfants Malades in Paris, France. POPULATION: Forty-three fetuses with isolated bilateral hyperechogenic kidneys. METHODS: All patients referred with isolated bilateral hyperechogenic fetal kidneys were followed up prospectively up to 34-132 months. The following prenatal items were analysed: fetal kidney size, amniotic fluid volume, gestational age at diagnosis, family history and renal ultrasound in parents. Postmortem examination was carried out in cases with perinatal death. Postnatal follow up of survivors included postnatal ultrasound, blood pressure, serum creatinine, proteinuria, need for restricted diet, weight and height and renal biopsy when available. MAIN OUTCOME MEASURES: Aetiology of hyperechogenicity, perinatal mortality and renal function in survivors. RESULTS: The aetiology could be established by family history, postmortem or postnatal data, but not by prenatal ultrasound. There were 20 autosomal recessive, 8 autosomal dominant polycystic kidney diseases, 9 other renal disorders and 6 symptom-free survivors without aetiological diagnosis. There were 19 terminations of pregnancy, 5 neonatal deaths and 19 survivors, of whom 14 had normal renal function three had mild and two had end stage renal failure. None of those with severe oligohydramnios and fetal kidneys > 4 SD survived (n = 14, 10 terminations and 4 neonatal deaths), whereas of the 17 with normal amniotic fluid volume and kidneys < 4 SD, 14 survived, of whom 9 were symptom-free. CONCLUSION: Aetiology could not be established prenatally in the absence of familial data. Kidney size and amniotic fluid volume were the best prenatal predictors of outcome.

Cohort Studies↗