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Biomedical subjects

A Vergnaud

Publications and source records attributed to A Vergnaud.

At least 19 recordsLinked to original sources
PubMed2005

Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited.

OBJECTIVES: Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. METHODS: A prenatal suspicion of 4p- syndrome was thoroughly investigated by using two-dimensional and three-dimensional sonography, with a description of the fetal face dysmorphological pattern. The cytogenetic confirmation, obtained by karyotype and FISH technique, allowed a precise description of the prenatal abnormalities. Post-termination tridimensional helicoidal scanner of the fetal face was performed. RESULTS: The main anomaly discovered using two-dimensional sonography was the presence of a strikingly thick prefrontal edema (8 mm, twice the normal values, at 22 weeks: 3.81 +/- 0.62 mm). Three-dimensional sonography showed the classical postnatal profile, with the phenotypic aspect of a 'Greek warrior helmet'. Nasal bones were normal in size and placement, confirmed by helicoidal scanner. CONCLUSION: Prenatal diagnosis of 4p deletion syndrome can be difficult, and it is the presence of prefrontal edema, associated with more subtle facial anomalies (short philtrum, microretrognathia) which should trigger cytogenetic investigation for 4p- deletion, even with only borderline growth retardation.

Adult↗
PubMed1999

Successful treatment of refractory supraventricular tachycardia by repeat intravascular injection of amiodarone in a fetus with hydrops.

We report the case of a fetus with supraventricular tachycardia complicated by congestive heart failure and ascites. After failure of initial transplacental treatment, the injection of amiodarone into the umbilical vein combined with evacuation of ascites achieved conversion to sinus rhythm and restored cardiac function thus allowing pregnancy to go to term. This report suggests that direct fetal therapy by umbilical vein puncture and evacuation of effusions constitutes an effective treatment for supraventricular tachycardias with massive fetal hydrops which do not respond to transplacental treatment.

Adult↗
PubMed1995

Prenatal diagnosis of trisomy 9. Six cases and a review of the literature.

Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.

Adult↗
PubMed1991

[Evaluation of the risks of transabdominal chorionic villus sampling. 600 cases].

The authors report their experience with fine needle chorionic villus sampling carried out transabdominally. Six hundred antenatal karyotype diagnoses were made using this method. The indications were: maternal age: 509 (85%), previous chromosomal abnormalities: 57 (9.5%), parental chromosomal abnormalities: 19 (3%), X chromosome linked diseases: 9 (1.5%), others: 6 (1%). The patients were divided into two groups according as to whether the test was carried out before or after 12 weeks of amenorrhea (Group 1 and Group 2). Each group was divided into two sub-groups according to whether the amniotic membranes were broken or not. The test was carried out using a 20 gauge needle under ultrasound control with a to-and-fro movement using continuous aspiration. The success rate was 98.4%. Minor complications were rare. Contractions 9 (1.5%), spotting 4 (0.6%), small haematomas 13 (2.1%), loss of amniotic fluid 4 (0.6%). The level of unintentional abortions depended on the duration of the pregnancy and whether the amniotic cavity or not was entered. In group 1 (before or at 12 weak amenorrhea) there were 2 abortions out of 124 cases (1.6%) and if the needle entered the amniotic cavity 10 out of 57 cases (17.5%). In group 2 (after 12 weeks of amenorrhea) there was no ill effect from going into the amniotic cavity to the rest of the pregnancy. The abortion rates was 6 out of 419 (1.43%). There were no false positive or negative results.(ABSTRACT TRUNCATED AT 250 WORDS)

Abdomen↗
PubMed1990

Risks of transabdominal chorionic villus sampling before the 12th week of amenorrhea.

The authors report on a series of 210 chorion villus sampling diagnoses made with a needle by the transabdominal route. The rate of fetal loss was 4.2 per cent. Placental localization was important: fetal losses were 8 per cent when the placenta was strictly posterior (transamniotic route), whereas it was only 1.6 per cent when it was not posterior. Moreover, all fetal losses occurred (apart from one at 12.5 weeks of amenorrhea) before the 12th week of amenorrhea. The authors suggest that choriocentesis by the transabdominal route should not be performed before the 12th week of amenorrhea, and that the amniotic membrane should not be disturbed before the 13th week of amenorrhea.

Abdomen↗
PubMed1990

[Role of beta-2-mimetic agents in the treatment of asthma].

Recent modifications of pre existing Beta 2 drugs and new substances with a prolonged bronchodilator effect may improve asthmatic treatment, in term of duration of benefit and compliance to medication. Evaluation of bronchodilation is still debated. When single dose of drug is administered, nycthemeral rhythm, baseline pulmonary function are to be taken in account. In case of long term treatment studies, evaluation of the effects is based upon clinical score, sequential pulmonary function tests, morning and evening peak expiratory flow rates. Risks way be related to be related to beta 2 drugs or concomitant therapy or associated pathology. Indications of dose and route administration are related to asthma severity. Question to state if beta 2 drugs may be considered as prevention treatment. Studies with compounds exhibiting prolonged bronchodilating effect are able to reduce nocturnal asthma, peak flow instability and to improve clinical scores and pulmonary function.

Administration, Oral↗
PubMed1989

Direct chromosome analysis in the second and third trimesters by placental biopsy in 30 pregnancies.

Direct chromosome analysis was performed on placental villi obtained by ultrasound-guided transabdominal needle aspiration in 30 women at between 23 and 37 weeks gestation. Placental biopsy is simple in the presence of severe oligohydramnios where fetal blood sampling is usually more difficult. Direct karyotyping of placental villi is more rapid than chromosomal analysis from fetal blood and from amniotic fluid. Two chromosomal anomalies were discovered: one trisomy 18 and one 6p+. Villus sampling failed in one woman and two samples obtained at 36 and 37 weeks gestation could not be karyotyped. The procedure did not affect the outcome of the pregnancy.

Adult↗
PubMed1988

[Placentocentesis, a new technic in the prenatal diagnosis of chromosome aberrations in the 3d trimester. A preliminary study apropos of 5 cases].

The authors report 5 cases in which placentocentesis was used for late antenatal diagnosis between the 25th and 34th week of amenorrhoea. As the placenta was anteriorly placed, samples were obtained by aspiration through the abdominal route under ultrasound control. The fetal karyotype could be determined in 2 days using a direct method. It showed normal chromosome pictures in all 5 cases. There was no complication in any of these cases following the procedure.

Adult↗
PubMed1988

[Improvement of a chromosomal technic for trophoblast biopsy. Apropos of 200 cases].

The authors report their experience of 200 cases of prenatal diagnosis by biopsy of chorionic villi. Because they could not consistently obtain good quality chromosome banding, they propose a modification of the conventional direct method. The addition of methanol in sufficient proportions to the nuclear suspension makes it possible to obtain spontaneous spreading on slides heated to 65 degrees C and eliminates the problems of mechanical spreading.

Adult↗
PubMedDate not supplied

Pregnancy outcome and prognosis in fetuses with increased first-trimester nuchal translucency.

OBJECTIVE: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. MATERIALS: The study was performed prospectively on 252 fetuses with either NT > or =3 mm or cystic hygroma. RESULTS: We observed 50 abnormal karyotypes, i.e. 19.8%. The incidence of chromosome abnormalities increased with increasing maternal age and increasing NT thickness. For the 202 fetuses with normal karyotypes, outcome was unfavourable in 32 cases: 23 elective terminations of pregnancy, 8 spontaneous abortions and 1 neonatal death. Outcome was favourable in 141 cases. Twenty-nine pregnancies were lost to follow-up. CONCLUSION: Measurement of NT at 12 weeks' gestation seems to be a good marker for chromosome abnormalities. When the karyotype is normal, the pregnancy outcome remains correlated with the degree of NT thickness. The finding of NT >3 mm between 10 and 14 weeks' gestation dictates rigorous ultrasound monitoring and caution when predicting pregnancy outcome.

Adult↗