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Biomedical subjects

S Guibaud

Publications and source records attributed to S Guibaud.

At least 37 records · Page 2Linked to original sources

[Biochemical markers of neural tube closure defects during the second half of pregnancy].

Increasing number of amniocentesis done during the second half of gestation with indication "signe d'appel" made necessary for authors to study amniotic fluid markers in late pregnancy. Normal evolution curve must be established with samples obtained after 20 weeks gestation. Study reveals more false-negative results with AFP than before 20 weeks. AChE remains constantly positive in cases with NTD, band aspect being specific. For other malformations, AChE positivity seems inconstant, with a different aspect. Some normal gestation cases can be associated with faint AChE band.

Acetylcholinesterase↗

[Alpha-fetoprotein and trisomy 21].

In 31 affected pregnancies with Down syndrome, the median maternal serum alpha-fetoprotein value was lower than normal, 0.76 MoM, and median amniotic fluid value was quite normal, 0.98 MoM. Selecting an arbitrary cutoff-point of 0.5 MoM, 4.1 percent of normal gestations show values less than 0.5 MoM. Authors discuss problems about screening for fetal Down's syndrome by measuring maternal serum AFP levels.

Amniotic Fluid↗

[Prenatal diagnosis of 4 cases of spina bifida in mothers treated with valproate].

The potential risk of spina bifida (SB) after fetal exposure to Valproate led the authors to apply the following protocol: in case of first trimester exposure to Valproate, prenatal diagnosis is offered and consists of both amniotic fluid examination and fetal ultrasound to detect open spina bifida. In the period 1983 to June, 1986, this program allowed early detection of three cases of SB and pregnancy termination. Another case escaped the programme: neural tube defect was detected lately and the child had to be operated upon. These four cases of SB underline the necessity of prenatal diagnosis with combined use and confrontation of ultrasound examination and biochemical amniotic fluid tests.

Adult↗

[Unusual increase in amniotic fluid alpha fetoprotein and trisomy 13].

From 10 observations of trisomy 13, 3 presented an elevated amniotic fluid alpha-fetoprotein level considered as unusual in 2 cases, superior to cut-off level in the other case. Macroscopic examination of the three fetus could not reveal a cause of AFP elevation, neural tube defect or abdominal wall defect. The authors discuss the role of an undetected abnormality such as minor scalp defect with very thin membrane and for one case false-negative result of Kleihauer test.

Adult↗

[Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid].

Non immune hydramnios and fetal ascite are demonstrated at 31 weeks gestation. There is no familial story. All etiologic investigations (repeated ultrasonographic examinations, amniocentesis) are negative. The delivered girl has a normal development. She presents a congenital ascite and edema. The diagnosis of sialidosis (mucolipidosis type I) is supported by the early finding of vacuolated lymphocytes, the excretion of oligosaccharides in the urine and, finally, the results of the study of alpha-D-neuraminidase fibroblasts and others lysosomal enzymes activities. Oligosaccharides and enzymic studies provide same results in amniotic fluid. Authors point the particular interest of amniotic fluid oligosaccharides study when the etiologic diagnosis of idiopathic fetal ascite or hydrops is to be done.

Adult↗

[Contribution of amniocentesis to prenatal screening of neural tube closing defects: evaluation of 10 years of a center's experience].

The authors report retrospective data on analysis of amniotic fluid DFTN markers (AFP and AChE) from 306 cases. Data were obtained from 261 amniocentesis done because there was a recurrence risk of DFTN and from 45 amniocentesis done because an anomaly as DFTN was diagnosed with ultrasonography. Results first show that the risk of recurrence is 3.03% in Rhône-Alpes area. In utero exposure to valproate appears as new indication for amniocentesis, in view of the possible association between Spina-Bifida and prenatal-valproate exposure (1/8 in the study). In contrast to anencephaly, Spina Bifida can be difficult to diagnose with ultrasonography before 20 weeks and require amniocentesis with AFP and AChE study.

Acetylcholinesterase↗

Transient neutrophil aggregation in a patient with infectious mononucleosis.

Transient neutrophil aggregation is reported in a case of infectious mononucleosis. The phenomenon was observed on a blood film patient just before splenic infarction and decreased after splenectomy. The aggregation was so important that differential blood count could not be done. A high serum level of circulating immune complexes was found, and fluorescent spots inside of granulocytes, presumably engulfed immune complexes, could be observed. It is suggested that C activation associated with high immune complexes in infectious mononucleosis is a possible pathogenetic mechanism inducing PMNs aggregation and immune tissue damage.

Adult↗

[119 cases of spina bifida treated surgically. Results of genetic investigations and genetic counseling].

After the surgical treatment of 119 cases of spina bifida, the authors present their experience of the genetic approach of the subject. From 1976 to 1978, a resolution not directing attitude towards the parents of the affected children has resulted in a total failure to recognize the recurrence risk, and in an absence of special care for the next pregnancies. The consequence has been recurrence cases of spina bifida in 4 families. Since 1979, a genetic inquiry has been systematically carried out, and all the parents have had a genetic counselling. This permitted the birth of 25 normal infants. In one case, the prenatal diagnosis revealed a fetal meningomyelocele, and motived a therapeutical abortion. Nowadays the fiability of the prenatal diagnosis and the possibility of a prevention through periconceptional vitamin supplementation are strong arguments to give a genetic counselling to all the parents of children with spina bifida.

Acetylcholinesterase↗

[Acetylcholinesterase of amniotic fluid: application to prenatal diagnosis of neural tube closing defects. I. Quantitative tests].

Acetylcholinesterase (AChE) in amniotic fluid from 165 normal pregnancies and 38 abnormal pregnancies was measured, using a direct assay of AChE activity after inhibition of ChnS with ethopropozine ("Lysivane"). Samples from normal pregnancies of 16-24 weeks gestation have a mean AChE activity of 2,7 U/1 and those obtained at 26-40 weeks have a mean level of 0,6 U/l. Contamination of amniotic fluid with fetal or maternal blood was observed to elevate AChE activity leading to uninterpretable results. Assays in artificial mixtures of amniotic fluid with maternal or fetal blood confirm the risk related to added erythrocyte number. Higher mean AChE activity, 8 U/l, was observed in association with open NTD, but in 7 cases the level was as in normal pregnancy. Elevated levels of AChE were found in association with Turner's syndrome (1) and intra uterine death (2); no increase was observed in 7 cases of omphalocele or laparoschisis, in 6 cases of atresia and 2 cases of hydrocephaly. In practice frequent occurence of bloody samples, specially from abnormal pregnancies, limits application of the test for antenatal open NTD diagnosis. This test appears as and useful preliminary stage providing informations for realization and interpretation of gel electrophoresis of cholinesterases.

Acetylcholinesterase↗

[Amniotic fluid acetylcholinesterase and prenatal diagnosis of neural tube defects. II. Qualitative test].

The qualitative acetylcholinesterase (AChE) test has been used in conjunction with alpha-fetoprotein (AFP) assay on 255 amniotic fluid samples: 191 from normal pregnancies, 44 from abnormal pregnancies (foetal anomalies or intrauterine death). In all cases of normal amniotic fluid obtained before 25 weeks, gel revealed a single major band of non specific cholinesterase, even in fluids contaminated by maternal of foetal blood, whereas 5 fluids contaminated by foetal blood were false positive on AFP. In 8 normal specimens with clear aspect, obtained after 25 weeks, gel revealed a second (AChE) faint band, inhibited by BW 284 C 51. That result shows the risk of false-positive for samples obtained in late pregnancy. All 20 cases of neural tube defect gave a characteristic AChE band: large and intense band. In 9 cases of abdominal wall defect, 3 presented an AChE faint band, just as 2 cases of atresia and 2 cases of hydronephrosis. Negative AChE results were found un 1 case of congenital nephrosis, 3 cases of hydrocephaly and 1 case of teratoma. The main value of qualitative AChE test seems today in diagnosing neural tube defects with a greater sensibility and in classifying bloody fluids in which the AFP is at or above the cut-off level.

Acetylcholinesterase↗

Estimating meconium (fetal feces) concentration in human amniotic fluid by nuclear magnetic resonance.

Measurements are reported of NMR relaxation times (T2) on hydrogen in water of isotonic NaCl solutions and of normal human amniotic fluid in which known concentrations of meconium (fetal feces) were dissolved. Magnetic fields for resonance of 23.5 X 10(3) and 0.6 oersteds were used. From the measured T2 values, reliable estimates of meconium concentrations could be obtained that might be considered estimates of fetal distress. Observed minor variation of T2 values was probably due to the mucopolysaccharides comprising 80% of the meconium weight. Advantages of this technique for possible clinical use in obstetrics include small volume of sample required (0.1 ml), lack of necessity for sample filtration or centrifugation, and shortness of time required for analysis (less than 30 min).

Amniotic Fluid↗

[Problems posed by prenatal diagnosis of abdominal wall malformations].

The authors present 6 observations of in utero detected abdominal wall defect : 2 laparoschisis and 4 omphaloceles. In three cases the diagnosis have been done prior week 20, by systematic AFP assay for amniocentesis performed for cytogenetic or metabolic reasons; the pregnancy was terminated. In three other cases, the pregnancy was complicated by hydramnios after week 30; amniocentesis for AFP and echography were performed to detect fetal malformations after associated with hydramnios. The detected abdominal wall anomaly was not alone: two fetus had an abnormal caryotype (trisomy 18), three other presented a polymalformative syndrome, a Beckwith-Wiedemann syndrome was discussed for the last child. The in utero diagnosis of omphalocele or laparoschisis implicates difficulties for genetic counselling, particularly if the diagnosis is done prior week 20. These anomalies can be treated with surgical management, but frequency of associated malformations must be underlined. it is important for genetic counselling to know the family history, the amniotic fluid cells caryotype, and an ultrasound scanning performed to reveal any other malformations.

Abdominal Muscles↗

[Acetylcholinesterase: an additional test for diagnosis of fetal malformations].

From an observation of in utero suspected myelomeningocele, the authors underline interest of pattern of cholinesterases using acrylamide gel electrophoresis. The AChE isoenzyme band appears in some fetal malformations, particularly NTD. This biochemical test is considered as complementary of the AF alpha-fetoprotein assay.

Acetylcholinesterase↗