[What method of sampling is best for prenatal diagnosis of genetic diseases?].
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Amniocentesis↗
Biomedical subjects
Y Dumez
Publications and source records attributed to Y Dumez.
Multifetal pregnancy reduction and selective termination.
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.
Female↗
Congenital chylothorax with hydrops: postnatal care and outcome following antenatal diagnosis.
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.
Birth Weight↗
Maternal-fetal folate status and neural tube defects: a case control study.
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.
Case-Control Studies↗
SRY-negative XX fetus with complete male phenotype.
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Adult↗
Meckel-Gruber syndrome: prenatal diagnosis at 10 menstrual weeks using embryoscopy.
A case of Meckel-Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involved in the formation of renal cysts.
Adult↗
Amniotic fluid digestive enzymes: diagnostic value in fetal gastrointestinal obstructions.
The diagnostic value of amniotic fluid gamma-glutamyl-transpeptidase (GGTP) and intestinal alkaline phosphatase (iALP) was evaluated in 55 patients who underwent amniocentesis for karyotyping because fetal gastric or small bowel dilatation had been detected by ultrasound. Gastrointestinal malformation was confirmed in 46 cases and there was no gastrointestinal anomaly in nine cases. Prenatal ultrasound was suggestive of gastroduodenal dilatation in 34 cases (group I) and small bowel dilatation in 21 cases (group II). In group I, amniotic fluid GGTP above the 99th percentile was 71 per cent sensitive and 100 per cent specific for a true anatomical defect of the digestive tract (mainly duodenal atresia). In group II, high levels of GGTP and/or iALP were 69 per cent sensitive and 83 per cent specific for a fetal digestive tract anomaly. In other words, when digestive tract dilatations were diagnosed by prenatal sonography, abnormal amniotic fluid enzyme activities were strongly suggestive of such an anomaly, the possibility of which was not precluded by normal amniotic fluid iALP and GGTP activities. But amniotic fluid digestive enzyme activities do not help in defining the prognosis.
Alkaline Phosphatase↗
Efficacy of second-trimester selective termination for fetal abnormalities: international collaborative experience among the world's largest centers.
OBJECTIVE: Our goal was to develop the most comprehensive database possible to counsel patients about selective termination for fetal abnormalities, because no one center has sufficient data to assess much more than crude loss rates. STUDY DESIGN: A total of 183 completed cases of selective termination from 9 centers in 4 countries were combined (169 twins, 11 triplets, 3 quadruplets). Variables included indications, methods, (potassium chloride, exsanguination, air embolus), gestational age at procedure, pregnancies lost (< or = 24 weeks), gestational age at delivery, and neonatal outcome. RESULTS: Indications for selective termination were 96 chromosomal, 76 structural, and 11 mendelian. Selective termination was technically successful in 100% of cases. In 23 of 183 (12.6%) miscarriage occurred before 24 weeks; 2 of 37 (5.4%) occurred when the procedure done at < or = 16 weeks and 21 of 146 (14.4%) when it was done thereafter. Air embolization had a higher loss rate: 10 of 24 (41.7%) compared with 13 of 156 (8.3%) by potassium chloride (chi 2 = 117, p < 0.0001). Three cases of selective termination performed in monochorionic pregnancies all resulted in pregnancy loss. Among 183 potentially viable deliveries, 7 occurred before 28 weeks, 19 at 29 to 32 weeks, 41 at 33 to 36 weeks, and 93 at > or = 37 weeks. Gestational age at delivery was not influenced by the technique used or the indication but was negatively correlated with gestational age at the time of selective termination. No coagulopathy or ischemic damage was observed in survivors. There was no maternal morbidity. CONCLUSIONS: (1) Selective termination in experienced hands for a dizygotic abnormal twin is safe and effective when done with potassium chloride. A total of 83.8% of viable deliveries occurred after 33 weeks and only 4.3% at 25 to 28 weeks. (2) Gestational age at the procedure correlated positively with loss rate and inversely with gestational age at delivery; this emphasizes the need for early diagnosis in multifetal pregnancies. (3) Coagulopathy tests are probably unnecessary.
Abortion, Therapeutic↗
Evaluation of postnatal renal function in fetuses with bilateral obstructive uropathies by proton nuclear magnetic resonance spectroscopy.
OBJECTIVES: To precisely evaluate fetal renal function in cases of bilateral fetal urinary tract obstruction, we analyzed fetal urine metabolites by nuclear magnetic resonance spectroscopy. STUDY DESIGN: Fifty-six specimens of fetal urine samples in utero were retrospectively analyzed by proton nuclear magnetic resonance. Group 1 (n = 21) consisted of survivors for > or = 1 year with normal serum creatinine (< 50 mumol/L), for group 2 (n = 17) of survivors with abnormal serum creatinine (> 50 mumol/L), and group 3 (n = 18) of those with bilateral histologic dysplasia associated with fetal (termination of pregnancy) or neonatal death. RESULTS: A specific nuclear magnetic resonance profile was obtained for each of the three groups of renal function. A two-dimensional representation of alanine-valine and valine-threonine concentrations allows clear differentiation between the three degrees of renal function, with a sensitivity and specificity of 88% and 86%, respectively. CONCLUSIONS: In fetal bilateral urinary tract obstruction a fetal urine nuclear magnetic resonance profile allows an accurate identification of renal function at birth.
Amino Acids↗
Transabdominal versus transcervical and transvaginal multifetal pregnancy reduction: international collaborative experience of more than one thousand cases.
OBJECTIVES: Two major approaches for multifetal pregnancy reduction have been developed over the past several years: transabdominal potassium chloride by injection and pelvic procedures by either transcervical aspiration or transvaginal potassium chloride injection or by an automated spring-loaded puncture device. The purpose of this study was to create the largest database from among the world's largest centers to assess possible differences in efficacy and complication rates by transabdominal or transcervical or multifetal pregnancy reduction. STUDY DESIGN: Data on over 1000 completed pregnancies that underwent multifetal pregnancy reduction by both methods from major centers with among the highest worldwide experience were combined. Transabdominal cases were divided temporally (1986 through 1991 and 1991 through 1993). RESULTS: Transabdominal multifetal pregnancy reduction was successfully performed on 846 patients and transcervical or transvaginal on 238 patients. Transcervical or transvaginal reduction is performed earlier and starts and finishes with fewer embryos. In 12.6% of cases transcervical or transvaginal reduction left a singleton as opposed to 4.4% for transabdominal reduction. Pregnancy losses (up to 24 weeks) were observed in 13.1% of transcervical or transvaginal cases and in 16.2% of transabdominal cases early in the series and 8.8% of late transabdominal cases. Transcervical or transvaginal reduction may be safer very early in gestation and transabdominal safer later in the first trimester. Premature deliveries were comparable, with only about 5% delivered between 25 and 28 weeks. The smaller starting numbers for transcervical and transvaginal reduction may explain a slightly higher term delivery rate. The transabdominal route tends to reduce the fundal embryos and the transcervical and transvaginal the lower ones. The significance of this is not clear. CONCLUSIONS: (1) Multifetal pregnancy reduction by either method is a relatively safe and efficient method for improving outcome in multifetal pregnancies. (2) More than 84% are delivered at > 33 weeks. (3) The experience and preference of the operator are probably the key determinants for an individual patient. (4) An inverse relationship of starting and finishing number to loss rates and gestational age at delivery suggests that there still is a cost of iatrogenic multifetal pregnancies, even if multifetal pregnancy reduction can be successfully performed.
Abdomen↗
[Free amino acids in fetal urine and prognosis of renal function in bilateral obstructive uropathies].
In order to evaluate renal function, fetal urine was sampled in 27 fetuses with urinary tract obstruction diagnosed by ultrasonography. Amino acid concentrations were measured retrospectively. On histological examination performed after termination of pregnancy, five fetuses were found to have bilateral renal dysplasia (group 1). Eleven fetuses developed renal failure after birth: at one year, plasma creatinine concentration was over 50 mumol/l (group 2). Renal function was normal in the 11 other infants (group 3, plasma creatinine concentration at one year < 50 mumol-1). Statistically significant between-group differences were seen in fetal urine amino acids concentrations. However, there was an overlap of values in the three groups and individual amino acid concentrations could not be used predictively.
Amino Acids↗
[Embryo reduction in multiple pregnancies. A French multicenter study].
OBJECTIVE: To study the outcome of multifetal pregnancy embryo reductions (MFPR) in France. STUDY DESIGN: A retrospective questionnaire multicenter survey was conducted in 11 French centers. 262 consecutive MFPR were collected. Miscarriage and prematurity rates were analyzed as a function of the starting number of embryos, the finishing number after MFPR, and the technique of MFPR. RESULTS: There were 41 pregnancy losses before 24 weeks (16%), and 221 deliveries at 25 menstrual weeks or later (84%). Prematurity was significantly correlated to the finishing number of embryos following MFPR. However, even when a single embryo was left, there were 30% of premature deliveries. CONCLUSION: MFPR decreases the risk of prematurity in multifetal pregnancies of high order, and this is best achieved when a single embryo is left.
Abortion, Induced↗
Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth.
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Adult↗
Serum hCG assay: a method for detection of contamination of fetal blood samples.
Serum human chorionic gonadotrophin (hCG) can be assayed in specimens obtained by percutaneous fetal blood sampling to check for the absence of maternal blood or amniotic fluid contamination. In order to assess the accuracy of this approach, we measured serum hCG in 44 pure fetal blood samples obtained by intracardiac puncture. The mean fetal serum hCG concentration was 52 IU/l, and the ratio of maternal to fetal serum hCG concentration never exceeded 1.1 per cent, which represents the smallest contamination rate detectable by this method.
Chorionic Gonadotropin↗
Fetal Niemann-Pick disease type C: ultrastructural and lipid findings in liver and spleen.
We present the first ultrastructural study of liver and spleen from a 20-week fetus with Niemann-Pick disease type C in correlation with lipid studies of these tissues. The lipid storage pattern was characteristic of the disease and although the distribution of the lipid storage was similar to that of affected children, ultrastructural studies emphasized that many inclusions were qualitatively different. These are discussed. Concomitant with this complex lipid storage, ultrastructural evidence of cholestasis was observed and the early hyperplasia of pericanalicular microfilaments leads us to question the presence of a toxic metabolite which might induce cholestasis by acting upon microfilaments.
Fetal Diseases↗
Congenital cystic adenomatoid malformation of the lung: prenatal management and prognosis.
Thirty-two cases of congenital cystic adenomatoid malformation of the lung diagnosed antenatally are reported. Antenatal diagnosis has made it possible to document the progress of the condition in utero and the postnatal prognosis. It has been possible to advise on termination and intrauterine intervention, to counsel the parents, and to plan arrangements for delivery and postnatal care among obstetricians, neonatologists, and pediatric surgeons. According to Stocker's classification there were 12 cases of type I, 15 of type II, and 5 of type III. Five pregnancies were terminated. Antenatal drainage of a cyst was performed in four patients with two survivors. Thirteen babies showed relative regression of the cyst as pregnancy progressed. After delivery the extent of the cystic malformation was assessed by chest x-rays and computed tomography scanning in 25 and angiography in 6. Treatment consisted of observation in 4, embolization in 2, operation as an emergency in 3, and electively around 4 months in 15.
Cystic Adenomatoid Malformation of Lung, Congenita↗
Prenatal management of congenital cystic adenomatoid malformation of the lung.
In utero evolution and postnatal outcome were studied for 18 cases of congenital adenomatoid malformation (CAM) diagnosed by prenatal ultrasound. Five were macrocystic CAM, 9 were microcystic, and 4 were homogeneously hyperechogenic. Three fetuses presented with hydrops. Pulmonary amniotic shunting was performed in 3 patients. Outcome was the following: 4 were aborted, 1 died neonatally, and 13 survived. Four of these infants required no surgery in the neonatal or postneonatal period. In three of these, the size of the mass had decreased spontaneously in utero. Outcome did not appear to be related to the anatomic type of CAM nor to the presence of moderate polyhydramnios, but was related to the degree of mediastinal compression and to the existence of hydrops. A clearer understanding of the natural evolution of CAM is useful to determine the indications for in utero therapy.
Cystic Adenomatoid Malformation of Lung, Congenita↗
[Obstetrical management of surgically correctable fetal malformations].
A considerable improvement in the management of congenital malformations results from early prenatal diagnosis. In most cases, the diagnosis is made in utero with such precision that a prognosis can be made before birth. Specific investigations such as fetal blood sampling, prenatal biology and cytogenetic studies may be necessary. Diagnosis, prognosis evaluation and management require a high degree of specialization and a multidisciplinary and well coordinated team in selected specialized centres. The management depends upon the type of malformation (gastro-intestinal, urinary, cardiac, pulmonary, osseous, parietal, etc), its importance, whether it is isolated or not, the postnatal surgical possibilities and the parents' opinion.
Female↗