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Biomedical subjects

M Dommergues

Publications and source records attributed to M Dommergues.

103 records · Page 6Linked to original sources

Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses.

Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus.

Adult↗

International, collaborative experience of 1789 patients having multifetal pregnancy reduction: a plateauing of risks and outcomes.

OBJECTIVE: To develop the most up-to-date, complete data base of multifetal pregnancy reduction (MFPR) from cases, and to provide the best counseling for couples with multifetal pregnancies. METHODS: From nine centers in five countries, 1789 completed MFPR cases were collected and outcomes evaluated. Pregnancy losses were defined as through 24 weeks and deliveries categorized in groups of 25-28, 29-32, 33-36, and 37 or more weeks. RESULTS: Overall, the pregnancy loss rate was 11.7% but varied from a low of 7.6% for triplets to twins and increased with each additional starting number to 22.9% for sextuplets or higher. Early premature deliveries (25-28 weeks) were 4.5% and varied with starting number. Loss rates by finishing number were highest for triplets and lowest for twins, but gestational age at delivery was highest for singletons. CONCLUSIONS: Multifetal pregnancy reduction has been shown to be a safe and effective method to improve outcome in multifetal pregnancies. Outcomes are worse with higher-order gestations and support the need for continued vigilance of fertility therapy.

Abortion, Spontaneous↗

Prenatal ultrasound may predict fetal response to therapy in non-hydropic fetuses with supraventricular tachycardia.

OBJECTIVE: To study the fetal response to prenatal therapy in non-hydropic fetuses with supraventricular tachycardia (SVT) as a function of fetal haemodynamic status at presentation. STUDY DESIGN: Retrospective study. MATERIAL AND METHODS: Between 1990 and 2000, 40 non-hydropic fetuses presented with SVT. Twenty-eight had reciprocating SVT and 12 had atrial flutter. Ten fetuses had significant tricuspid valve regurgitation. All fetuses were treated prenatally. The main outcome measurement was fetal response to therapy as assessed by the rate of prenatal SVT reduction and by the mean time interval to sinus rhythm restoration. RESULTS: The mean gestational age at presentation was 29 +/- 4.9 weeks. Overall, there were 39 live births and 1 intrauterine death. Reduction of SVT was achieved prenatally in 32 cases (80%). Among the 30 cases without tricuspid regurgitation, prenatal conversion to sinus rhythm was achieved in 27 cases (90%) with a mean time interval of 7 days. Among the 10 fetuses presenting with tricuspid regurgitation, the rate of prenatal conversion was significantly lower (5/10) and the mean time interval to conversion was significantly longer (24 days; p = 0.04, Mann-Whitney test). In the subgroup treated by digoxin as first-line therapy (n = 32), the interval to sinus rhythm restoration was also significantly higher in the presence of tricuspid regurgitation, with a slightly but not significantly lower reduction rate. CONCLUSION: The response to prenatal therapy may be poorer in cases presenting with tricuspid regurgitation.

Amiodarone↗

Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies. The rate of recurrence ranges from 25% in some recessive forms of myogenic arthrogryposis or of primary anterior horn cell loss, to less than 1% in anoxic-ischaemic damage. Cerebral clastic processes are considered as sporadic. We report on a non-consanguineous family in which the first child was affected by AMC and the following pregnancy was terminated because cerebellum hypoplasia was suspected at ultrasound and confirmed by fetal magnetic resonance imaging. Post-mortem findings demonstrated pontocerebellar ischaemic-haemorrhagic injuries. The occurrence of these neurologic abnormalities in the same family suggests a common mechanism, which might correspond to a same genetic defect with different patterns of expression. This is the first prenatal report suggesting that an 'ischaemic' process, usually recognised as sporadic could in fact be due to an inherited abnormality. Careful prenatal follow-up of third-trimester fetal brain development may be required in pregnant women with a family history of AMC.

Adult↗

Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology.

Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet described as 'mitten-like' with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone. We report a case in which the prenatal diagnosis of Apert syndrome was suspected by ultrasonography, established by three-dimensional computed tomography scan (3DTS) and confirmed by the detection of a mutation on amniotic cells. This underscores the usefulness of a sequential diagnostic approach combining 3DTS and molecular biology in cases in which sonography alone is not con- clusive.

Acrocephalosyndactylia↗

Pathogenesis of twin-twin transfusion syndrome: the renin-angiotensin system hypothesis.

In spite of active perinatal management, twin-twin transfusion syndrome (TTTS) remains a severe disease with a high risk of neonatal mortality and morbidity. TTTS initially results from an unbalanced blood flow from a donor to a recipient twin. However, its pathogenesis remains unclear, although cardiovascular disturbances and regulation of fetal volemia and diuresis seem central in this syndrome. Previously, we demonstrated that the renin-angiotensin system (RAS) was up-regulated in donor twins as a consequence of hypovolemia, and down-regulated in recipients. This was the first evidence of the implication of the RAS in TTTS. We hypothesize that the RAS plays a key role in the pathogenesis of TTTS. In the donor, RAS up-regulation aggravates oligohydramnios and may increase arterial resistance, which could contribute to placental dysfunction leading to intrauterine growth restriction. In the recipient, paradoxical RAS activation, due to transfer of effectors such as angiotensin II through placental shunts, could explain fetal vascular disturbances and cardiomyopathy. According to our hypothesis, TTTS would appear similar to the classical model of hypertension referred to as '2 kidneys-1 clip' with a donor twin, comparable to the clipped kidney, intoxicating its cotwin, comparable to the normal kidney.

Female↗

Is routine amniocentesis for advanced maternal age still indicated?

OBJECTIVE: To evaluate a policy of selective rather than routine use of amniocentesis for advanced maternal age. METHOD: A consecutive series of 359 pregnant women aged 38-47 underwent nuchal translucency measurement (NTM) at 10-14 weeks, maternal serum screening (MSS) by alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) at 15-17 weeks, and second trimester ultrasound at 21-23 weeks. Women with NTM <3 mm, MSS-derived risk <1/250, and a normal second trimester sonography were considered at low risk and were suggested not to have an amniocentesis. RESULTS: Either the NTM or MSS test was positive in 130 women; 105 (81%) of them elected to have an amniocentesis, versus 122 (53%) of 229 in whom both tests were negative (p < 0.001). Nineteen (5%) of 359 patients had NTM > or =3 mm; all 7 cases of Down's syndrome were in this group; 122 (34%) of 359 patients had a MSS-derived risk > or =1/250; 6 of the 7 cases of Down's syndrome were in this group: Ten patients had an abnormal second trimester ultrasound, 1 of which had trisomy 18. Of the 219 patients with MSS-derived risk <1/250, a NTM <3 mm, and a normal second trimester ultrasound, none had a baby with a chromosomal abnormality (95% confidence interval: 0-1.4%). CONCLUSION: Amniocentesis may be offered on a selective rather than routine basis in women over 38, based upon the results of noninvasive screening tests.

Adult↗

Second- and third-trimester therapeutic terminations of pregnancy in cases with complete placenta previa--does feticide decrease postdelivery maternal hemorrhage?

OBJECTIVE: To study the feasibility of second- and third-trimester termination of pregnancy (TOP) with complete placenta previa, and the impact of performing feticide before labor induction on maternal hemorrhagic morbidity. PATIENTS AND METHODS: From 1987 to 2002, the databases of two referral hospitals were reviewed. We identified 15 cases of second- or third-trimester TOP in women with complete placenta previa. Feticide was performed 2-14 days before induction in 6/15 cases. Cervical ripening was achieved in 8 cases by mifepristone alone (n = 2) or by mifepristone and dilapan (n = 6). Labor was induced by vaginal gemeprost (n = 2), intramuscular (n = 5) or intravenous (n = 4) sulprostone, vaginal misoprostol (n = 1) or a combination of misoprostol and sulprostone (n = 3). Hemorrhage was defined by the need for transfusion. The difference between the preoperative and the lowest per- or postoperative maternal hemoglobin level was also analyzed. RESULTS: Of the 9 women who underwent labor induction without previous feticide, 4 required blood transfusions, 1 of whom had a hemostat hysterectomy. The mean hemoglobin difference was 2.5 g/dl (range: 0.5-5.3). None of the 6 patients with preinduction feticide required transfusion. The hemoglobin difference was significantly smaller in this group than in terminations without previous feticide (mean: 1.0 g/dl ; range: 0.1-2.2; p = 0.03). CONCLUSION: In cases with complete placenta previa, second- or third-trimester TOP is feasible. It carries a substantial risk of hemorrhage that might be decreased by preinduction feticide.

Abortion, Therapeutic↗

Transabdominal amnioinfusion for the management of nonlaboring postdates with severe oligohydramnios.

A retrospective study compared two comparable consecutive groups of nonlaboring primiparas beyond 41 weeks with severe oligohydromanios (no amniotic pocket more than 2 cm deep). Transabdominal amnioinfusions were not done in the historical control group (n = 14) but were done in the second group (n = 11). Fetal heart rate patterns and neonatal outcome were better in the group with amnioinfusion than in controls, and the rate of cesarean delivery was significantly lower (18 vs. 93%, p < 0.001). These results suggest that prepartum transabdominal amnioinfusion may have obstetrical and perinatal benefits for nonlaboring postdates with oligohydramnios, especially when the cervix is unripe.

Abdomen↗

Fetal enteroviral infection with cerebral ventriculomegaly and cardiomyopathy.

Fetal cerebral ventriculomegaly and cardiomyopathy were diagnosed prenatally at 35 weeks and resulted in fetal death. Although there was no post mortem pathological evidence of inflammatory lesions, fetal serum alpha interferon was abnormally high (25 IU/ml). Virologic investigations were therefore carried out on stored amniotic fluid, fetal and maternal blood samples. The presence of enterovirus was retrospectively demonstrated in amniotic fluid. The association of fetal birth defects with enteroviral infection is puzzling and suggests that more attention should be given to virologic studies in the diagnostic workup of fetal malformations otherwise considered as idiopathic.

Adult↗

Twin-to-twin transfusion syndrome: selective feticide by embolization of the hydropic fetus.

To improve the outcome of severe twin-to-twin transfusion syndrome with 1 hydropic fetus and to prevent ischemic sequelae in the survivor, we developed a technique of selective feticide by vascular embolization of the most severely damaged twin. Acute second trimester polyhydramnios occurred in 4 biamniotic monochorial twin pregnancies, with 1 fetus normal on ultrasound but the other severely damaged by hydrops and hypertrophic hypokinetic cardiomyopathy. The hydropic fetus underwent embolization using a bolus of histoacryl injected into the umbilical vein and fetal heart under ultrasound guidance. In 1 triplet pregnancy with a set of monochorial fetuses, premature labor occurred at 26 weeks, 2 weeks after embolization, and there were 2 neonatal deaths. The 3 other cases resulted in the birth of a normal infant at 31-37 weeks of gestation. This suggests that in twin-to-twin transfusion syndrome with severe polyhydramnios and hydrops of 1 fetus, embolization may salvage the other twin.

Embolization, Therapeutic↗

First-trimester translucency: aneuploidy, sonographic findings, and maternal age.

The positive predictive value of 1st-trimester nuchal translucency for the diagnosis of fetal aneuploidy is reported to range from 19 to 72% in retrospective series and from 2.8 to 4.8% in prospective studies. In order to analyze the biases accounting for such discrepancies, we retrospectively analyzed a consecutive series of 66 cases of translucency and studied the rate of aneuploidy as a function of sonographic findings and maternal age. The aneuploidy rate was significantly higher in the 23 cases in whom translucency involved the fetal trunk (65%) than in the 43 cases in whom translucency was confined to the nuchal area (16%). This rate was not significantly higher in septated translucencies. These trends persisted after adjustment for maternal age, but the rate of chromosomal anomalies was twice lower in younger mothers. Among the 46 cases in whom the maternal age was < 35 years, 10% of the 30 fetuses with localized nuchal translucency had an abnormal karyotype. In contrast, the rate of aneuploidy was 85% among the 7 cases with diffuse translucency for whom the maternal age was 35 years or above. These findings confirm that both maternal age and size of the translucency should be taken into account to evaluate the risks of aneuploidy.

Aneuploidy↗