Biomedical subjects
Publications and source records attributed to Y Dumez.
On the basis of prenatal identification of a cleft lip by embryoscopy, a case of van der Woude syndrome was diagnosed at 11 menstrual weeks, allowing for early termination of pregnancy. The potential of embryoscopy to detect minor malformations in early pregnancy is discussed from both the technical and the ethical point of view.
BACKGROUND: Conjoined (siamese) twins represent a rare situation which may occur in 1 of every 50,000 births. A prenatal diagnosis usually leads to stopping pregnancy. We report a case with successful surgical separation at the age of 15 days. CASE REPORT: Ultrasonographic examination at 20 weeks of gestation showed omphalopagus siamese joined at the abdomen from the xiphoid process to the umbilicus. Conjoined structures included liver. There was a multicystic right kidney in one twin, without other malformation. Karyotype was normal, 46XX. The mother refused interruption of her pregnancy. Both girls were born by cesarean section. Angiography, magnetic resonance imaging and intravenous urography confirmed the ultrasound examination. There was no cross circulation into the liver and the gastrointestinal tract was not conjoined. The twins were separated at 15 days of age with right heminephrectomy of the multicystic kidney. The girls are now 16 months old and are in very good health. CONCLUSION: Prognosis of siamese twins depends on the nature of joined structures and presence of malformations. Ultrasonographic examination during pregnancy shows the possibility of surgical separation, which is performed by a double anesthetic and surgical pediatric team. Preoperative investigations must include MRI.
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Multifetal pregnancy reduction has had a major impact upon perinatal morbidity and mortality following iatrogenic multiple pregnancies. There are still residual risks, however, that are higher for higher order multiples than for pregnancies that started out at lower numbers. There are many, but not complete, parallels between reductions for number per se, and selective termination because of diagnosed abnormalities.
We consecutively managed 25 cases of fetal chylothorax with hydrops (pleuroamniotic shunting in 20/25 cases). Three of the 16 liveborn infants died before day 5 from malformations (n = 1) or complications of antenatal origin (n = 2). Eleven of the 13 survivors were treated in our unit. Four infants whose chylothorax had resolved before birth following antenatal shunting were delivered at term, and had no respiratory disease. Seven infants, whose chylothorax persisted, were delivered prematurely and required intensive respiratory care (with mechanical ventilation for a median duration of 34 days). The 11 infants were maintained on total parenteral nutrition for a median duration of 31 days. They were discharged home after complete clinical recovery at a median age of 64 days. Antenatal pleuroamniotic shunting may improve the prognosis of congenital chylothorax with hydrops. Chylothorax persisting at birth resolves progressively with medical management.
The object of this study was to explore the role of folate in the pathophysiology of neural tube defects (NTD). Maternal and fetal serum and red blood cell folate were assayed in 14 cases of NTDs and compared with 14 controls with other malformations and matched for gestational age (range 18-36 weeks). In mothers of NTD fetuses, serum folate (5.2 ng/ml), red blood cell folate (294 ng/ml) and the folate methylation rate (65%) were significantly lower than in controls (6.6 and 399 ng/ml, respectively, and 77%). However, the fetal folate status was similar in cases and controls. In the NTD group, folate metabolism was altered in the mothers but not in the fetuses. Therefore, a normal folate placental transfer can be assumed in this group. In addition, it could be speculated that decreased maternal folate methylation might be involved in the pathogenesis of NTDs.
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.
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.
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.
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.
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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.
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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.
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.
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.
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.
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