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Biomedical subjects

Y Dumez

Publications and source records attributed to Y Dumez.

At least 91 records · Page 5Linked to original sources
PubMed1993

Fetal urinary biochemistry predicts postnatal renal function in children with bilateral obstructive uropathies.

OBJECTIVE: To investigate the ability of fetal urinalysis to predict in utero the renal function of children with bilateral uropathy who survive to the second year of life. METHODS: This was a prospective cohort study of 100 consecutive patients with prenatal diagnosis of bilateral uropathy who underwent fetal urine sampling. Fetal urinary concentrations of sodium, chloride, calcium, phosphorus, ammonium, urea, creatinine, glucose, proteins, and beta 2 microglobulin were measured. Prenatal findings were matched with renal function of survivors at 1-2 years. The single end point was serum creatinine, which was considered abnormal when greater than 50 mumol/L (0.56 mg/dL) during the second year of life. RESULTS: Elevated serum creatinine was found in 17 of 42 children with isolated uropathy who survived more than 1 year. For prediction of elevated serum creatinine during the second year of life, the fetal urinary concentration of beta 2 microglobulin was both specific (0.83) and sensitive (0.80); sodium, chloride, and urea levels were sensitive (0.70 or greater) but lacked specificity (less than 0.65); and fetal urinary glucose, phosphorus, calcium, ammonium, and total proteins were specific (0.70 or greater) but lacked sensitivity (0.65 or less). CONCLUSIONS: Our results provide a new approach to prenatal management of congenital obstructive uropathies by identifying those fetuses at risk for survival with suboptimal renal function. These fetuses might benefit from intrauterine therapy. In contrast, no attempt at prenatal uro-amniotic shunting should be made when a spontaneously good outcome is predicted by fetal urinalysis.

Adult↗
PubMed1993

Efficacy of transabdominal multifetal pregnancy reduction: collaborative experience among the world's largest centers.

OBJECTIVE: To evaluate the safety and efficacy of transabdominal multifetal pregnancy reduction (MFPR) in the management of iatrogenic and spontaneous multifetal pregnancies. METHODS: Data were combined from 463 completed pregnancies that underwent MFPR at major worldwide centers. RESULTS: Multifetal pregnancy reduction was performed with a 100% technical success rate (there were no failed procedures); 83.8% had delivery of potentially viable fetuses (defined as 24 weeks' gestation or later), and 83.5% of these viable pregnancies delivered at 33 weeks or later. The risk of fetal loss was 3.9% at 2 weeks or less post-procedure, 4.6% at 4 weeks or less, and 16.2% at less than 24 weeks of gestation. Gestational age at delivery varied principally with the number of fetuses remaining, with 7.1% delivering prematurely at less than 28 weeks, and 9.4% at 29-32 weeks. The incidence of obstetric and medical complications appeared to be unaffected, and there was no increase in congenital malformations. CONCLUSIONS: Multifetal pregnancy reduction is an efficient and safe way of improving outcome in multifetal pregnancies, unambiguously for quadruplets or more, and arguably for triplets. However, particularly at higher starting numbers, there are still suboptimal outcomes. We cannot answer the question of whether MFPR should be offered to women with triplets or twins. The only major risk appears to be fetal loss per se, and because the procedure itself does not damage the survivors, parental autonomy should be given a higher priority in the decision process than previously. However, to obviate the need for this procedure, infertility specialists must continue to be vigilant in the use of fertility drugs.

Abortion, Induced↗
PubMed1992

First-trimester diagnosis of nuchal anomalies: significance and fetal outcome.

High-resolution real-time ultrasonography now permits the differentiation between nuchal translucencies and cystic hygromata of the neck in the first trimester. A series of 85 nuchal anomalies are presented that were diagnosed by ultrasonography at 9-14 weeks' gestation; their association with chromosomal defects and fetal outcome are also presented. Chromosomal anomalies were found in 8/29 nuchal translucencies and in 16/56 cystic hygromata of the neck. However, in fetuses with normal karyotype, additional defects were diagnosed in l0/40 fetuses with cystic hygromata and in none with nuchal translucency. These data may be important for the management of these conditions and for counselling the patients toward further pregnancy.

Journal Article↗
PubMed1992

Reversal of fetal distress by emergency in utero decompression of hydrothorax.

OBJECTIVE: The purpose of our study was to determine whether in utero pleural decompression can improve abnormal cardiotocograms resulting from compressive fetal hydrothorax. STUDY DESIGN: We reviewed all cases of fetal hydrothorax referred to our level 3 fetal medicine unit. Highly pathologic cardiotocographic findings were observed in four third-trimester patients. All had mediastinal compression that resulted in skin edema on the upper part of the body. Prenatal therapy was performed on an emergency basis, two with thoracocentesis and two with pleuroamniotic catheters. RESULTS: One patient went into intractable bradycardia on arrival in the department and died in spite of immediate thoracocentesis. The other three recovered, with normal heart rate patterns after pleural decompression. CONCLUSION: Emergency prenatal therapy may reverse fetal distress in utero, allowing time for delivery of uncompromised infants if possible after a complete evaluation of nonimmune hydrops.

Adult↗
PubMed1992

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.

Trichothiodystrophy (TTD) is an autosomal recessive disorder characterized by brittle hair with reduced sulphur content, and mental and physical retardation. Numerous additional clinical features may be present, producing a very heterogeneous syndrome. Many cases exhibit ichthyosis and photosensitivity. Cells from photosensitive TTD patients show reduced DNA repair levels similar to those found in xeroderma pigmentosum. TTD patients have a short life expectancy, and no treatment is known or envisaged. We report the prenatal diagnosis of TTD in two French families, based on DNA repair measurements in trophoblasts or amniotic cells, with later confirmation by microscopic analysis of the fetal hairs. Although the DNA repair defect was less marked in the fetal cells when compared with fibroblasts from the index case, measurement of DNA repair by unscheduled DNA synthesis provided unambiguous evidence of defective DNA repair in the fetal cells. This method is therefore a suitable prenatal diagnostic test for those TTD families in which a DNA repair defect has been identified.

Adult↗
PubMed1992

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA probes has shown that the mutation causing Werdnig-Hoffmann disease is located on chromosome 5q12-q14. We performed genetic analysis for the prenatal diagnosis of Werdnig-Hoffmann disease in seven at risk families. Two fetuses were diagnosed as being affected and the remainder as unaffected, and this was confirmed after birth. This study shows that prenatal diagnosis of Werdnig-Hoffmann disease has become feasible.

Chromosomes, Human, Pair 5↗
PubMed1992

Prepartum transabdominal amnio-infusion for severe oligohydramnios.

Transabdominal amnio-infusion preceding labor induction was evaluated as a means of avoiding fetal distress and cesarean delivery in patients with oligohydramnios. A preliminary study was performed in 8 consecutive term or post-term pregnancies complicated by severe oligohydramnios (amniotic fluid index less than or equal to 1 cm) with unripe cervices (Bishop's score less than or equal to 3). Warm saline was injected through a spinal needle under ultrasound control. Vaginal delivery occurred in 7 cases; cesarean section was performed in one patient for failure to progress. There was no meconium aspiration and no sign of fetal distress.

Abdomen↗
PubMed1992

Hematopoiesis in the human yolk sac: quantitation of erythroid and granulopoietic progenitors between 3.5 and 8 weeks of development.

In a first attempt to investigate the regulation of the early steps of human embryonic hematopoiesis, we measured the number of erythroid and granulopoietic progenitors in 38 human yolk sacs and 15 embryonic livers between 27 and 62 days of development. Both erythroid and granulopoietic progenitors were identified in the yolk sac as soon as 27 days, while in the embryonic liver significant numbers were not observed before 40 days. In the yolk sac, the number of granulopoietic and/or macrophagic progenitors was significantly negatively correlated with gestational age. Such a correlation was not observed for CFU-E and BFU-E, even though in the youngest (less than 30 days) and the oldest embryos studied (greater than 40 days), the number of BFU-E was clearly lower.

Cell Count↗
PubMed1991

[Bilateral Leydig cell tumor of the ovary in a woman with congenital adrenal hyperplasia. The first reported case].

A 26-year-old woman with congenital adrenal hyperplasia (CAH) due to 11 hydroxylase deficiency complained of infertility. Clinical examination disclosed no evolutive virilizing features. Basal serum levels of delta 4 androstenedione and testosterone, under hydrocortisone suppressive therapy, where elevated at 4.72 and 2.84 ng/ml respectively (N: 1.2 to 2.2 and 0.2 to 0.6) leading to the discovery of a right ovarian tumor. Post-operative evaluation (8 months later) revealed dexamethasone-sensitive hyperandrogenism and a coincidental large left ovarian tumor. Three months after the second surgical procedure, the patient became pregnant and gave birth to a non-virilized girl. At microscopic examination both tumors were typical Leydig cell tumors of the ovary containing crystals of Reinke. This is the first case of bilateral and macroscopic Leydig cell tumor ot the ovary in a woman with congenital adrenal hyperplasia. Relationships between hilus cell tumors and steroid cell tumors of the adrenocortical type are discussed.

Adrenal Hyperplasia, Congenital↗
PubMed1991

First-trimester prenatal diagnosis in quintuplets: a practical approach using step-by-step embryo reduction.

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.

Abortion, Therapeutic↗
PubMed1991

Embryo reduction in multifetal pregnancies after infertility therapy: obstetrical risks and perinatal benefits are related to operative strategy.

To assess the benefits that can be expected from embryo reduction of multiple pregnancies after infertility therapy, we report 58 consecutive cases of selective termination using either a transcervical or a transabdominal approach. The initial number of embryos was five or more in 13 patients, four in 29 patients, and three in 15 patients. The miscarriage rate after transabdominal procedures (23%) was one half of that after transcervical aspiration. Forty pregnancies resulted in the live birth of one child or more. The rate of prematurity was strongly related to the number of embryos left. Mean gestational age at birth was 35.5 weeks but reached 37.7 weeks when only one embryo was left. A reduction in premature birth after selective termination appeared clear for pregnancies with four or more embryos but was less significant for triplets.

Abortion, Induced↗
PubMed1991

Thyroid function in fetus and mother during the second half of normal pregnancy.

Thyroid hormones, thyroxine-binding globulin (TBG) and thryrotropin (TSH) concentrations were measured in 46 paired fetal and maternal blood samples collected between 17 and 36 weeks of gestation. The samples were selected retrospectively from fetuses that had undergone cordocentesis for prenatal diagnosis, had been found to be unaffected and confirmed healthy at birth. In maternal serum, total thyroxine (TT4) and triiodothyronine (TT3) concentrations were high, but free thyroxine (FT4) and free triiodothyronine (FT3) were within normal adult ranges; reverse T3 (RT3) increased and TSH levels decreased towards term. Fetal TT4, FT4, TT3, FT3, TBG and TSH levels significantly increased whereas RT3 sharply decreased with gestational age. The ratio of fetal TSH/FT4 significantly decreased, suggesting that the set point for negative feedback of pituitary TSH secretion is changing while the sensitivity of the thyroid gland to TSH increases throughout gestation. There was no significant correlation between the maternal and fetal TBG, TSH, TT4 and FT4, whereas maternal TT3 was positively correlated with fetal TT4, FT4, TT3 and FT3. Normal reference values for maternal and fetal iodothyronines, TBG and TSH throughout the second half of gestation provide insight into fetal thyroid development and may be useful for prenatal diagnosis.

Adult↗
PubMed1990

Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluid.

We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk. Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17-week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy.

Adult↗
PubMed1990

[Antenatal diagnosis of obstructive uropathies].

Many cases of low or bilateral obstructive uropathy due to malformations lead to death, either in utero or at birth, as the absence of diuresis leads to oligoamnios, which in turn causes hypoplasia of the lungs that does not allow neonatal survival. The associated chromosomal anomalies or multiple malformations also have harmful effects. These severe prenatal forms had not been taken into account for pediatric statistics, and were previously not studied. Thus it proved essential for prenatal medicine not to be content with arriving at diagnoses, but rather to try and foresee the prognosis of the abnormalities revealed by assessing the renal function of the fetus in each case. A number of data on fetal urine, such as the sodium, 2-microglobulin or calcium levels, make this assessment possible. Correlations between the fetal urinary parameters and the renal function in the child at age one have been established. These criteria now allow distinguishing the fetuses that will not survive from those that will have renal insufficiency and, finally, from those whose renal function will be normal at age 1.

Constriction, Pathologic↗