Biomedical subjects

Françoise Muller

Publications and source records attributed to Françoise Muller.

24 records · Page 2Linked to original sources

PubMed2002

Second trimester trisomy 21 maternal serum marker screening. Results of a countrywide study of 854,902 patients.

OBJECTIVES: In France, maternal serum marker screening is governed by specific legislation. We conducted a study of the countrywide trisomy 21 screening based on second trimester maternal serum markers. METHODS: We reviewed the medical records of 854,902 patients prospectively screened for second trimester maternal serum markers in the 60 authorized laboratories over the two-year period 1997-1998. All patients screened in France were included. The risk of trisomy 21 was calculated from the combination of maternal age and maternal serum markers. The same cut-off (1/250) was used in all laboratories. RESULTS: In 1998, 65% of pregnant women underwent maternal serum screening. In the 837,765 patients under 38 years of age who were screened, 54,321 (6.48%; 5% CI 6.42-6.53%) had a calculated risk >1/250. Of the 884 Down syndrome cases observed, 626 were detected by maternal serum markers (70.8%; 5% CI 67.8-73.8%). These good results can be explained by a strict quality control of all steps. For the 13,891 patients over 38 years of age, the Down syndrome detection rate was 98.9% for a 34% false-positive rate. CONCLUSIONS: Strict rules covering prenatal trisomy 21 screening are of benefit to patients, practitioners and laboratories alike, and ensure good quality control, a high trisomy 21 detection rate and a low amniocentesis rate.

Biomarkers↗

PubMed2002

Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers.

In routine obstetrical practice, prior to offering invasive prenatal diagnosis, it is crucial to weigh the risks attendant on amniocentesis against the individual's risk of aneuploidy. We took advantage of a policy of follow-up of patients undergoing Down syndrome maternal serum screening to compare the rates of fetal loss before 24 weeks and of early premature delivery at 24-28 weeks between women who underwent amniocentesis and women who did not. A total of 54 902 patients entered the study, of whom 4039 (7.35%) were lost to follow-up and 387 were excluded because of a severe fetal abnormality. Of the 50 476 remaining patients, 3472 had an amniocentesis whereas 47 004 had not and served as controls. In the amniocentesis group, the fetal loss rate before 24 weeks was 1.12% (95% CI=1.08-1.15) and the 24-28 weeks premature delivery rate was 0.40% (95% CI=0.39-0.41) which was significantly higher than in controls (0.42% with 95% CI 0.41-0.43 and 0.24% with 95% CI 0.23-0.25, respectively). The 0.86% difference in adverse outcome rates between the amniocentesis and control groups may be attributable to amniocentesis and compares favourably with the positive predictive value of maternal serum markers (1.70%) observed in the present study.

Adolescent↗

PubMed2002

Down syndrome maternal serum marker screening after 18 weeks' gestation.

Women having access to prenatal care late in pregnancy may still wish to benefit from maternal serum screening for Down syndrome. Therefore, we established reference values for alpha-feto protein (AFP) and free beta-human chorionic gonadotrophin (beta-hCG), and assessed the diagnostic value of maternal serum marker screening at 18-35 weeks' gestation based upon a series of 4072 sera from unaffected pregnancies and 118 sera from pregnant women with fetuses affected by Down syndrome. Using a 1/250 risk cut-off, a detection rate of 72.9% (95% CI = 71.5-74.3%) was achieved with a false-positive rate of 7.51% (95% CI = 6.71-8.3%). This was not significantly different from the percentages observed in our 14-17 weeks routine screening (50 596 patients): 71.9% (95% CI = 71.5-72.3%) and 6.48% (95% CI = 6.28-6.68%), respectively. Detection and screen-positive rates were, respectively, 51.3% (95% CI = 35.6-67.0%) and 5.95% (95% CI = 5.12-6.68%) in women aunder 35 years of age, and 84.8% (95% CI = 76.9-92.7%) and 24% (95% CI = 20.7-27.3%) in women aged 35 years and over. In conclusion, maternal serum marker screening is feasible at 18 weeks' gestation and later, which may be of interest in selected cases.

Adult↗

PubMed2002

Amniotic fluid beta-endorphin: a prognostic marker for gastroschisis?

PURPOSE: The aim of this work was to study amniotic fluid beta-endorphin as a potential predictor for postnatal morbidity in gastroschisis. METHODS: Beta-endorphin was assayed in 43 amniotic fluid samples from 13 pregnant women with fetal gastroschisis undergoing diagnostic amniocentesis or therapeutic amnioinfusion and compared with 33 controls. Within the gastroschisis group, the authors investigated the relationship between postnatal morbidity and the peak value of amniotic fluid beta-endorphin (AFBE). RESULTS: Ten AFBE values in 6 cases of gastroschisis were above the upper limit of the 95% confidence interval derived from controls. Postnatal morbidity was significantly higher when peak AFBE exceeded 10 microg/L (n = 4 pregnancies) compared with below 5 microg/L (n = 9 pregnancies), as shown by mean duration of mechanical ventilation (15.2 v 3 days; P =.01), of parenteral feeding (77 v. 18.7 days; P =.04), and of hospitalization (84 v 32.2 days; P =.04). There was no statistically significant association between postnatal morbidity markers and prenatal dilation of fetal bowel. CONCLUSIONS: The most severe cases of gastroschisis are associated with high levels of AFBE. The authors speculate that this fetal hormonal response could result from stress or pain caused by prenatal bowel damage.

Amniocentesis↗

PubMedDate not supplied

Etiology and outcome of fetal echogenic bowel. Ten years of experience.

OBJECTIVE: To assess the frequency of certain etiologies in fetal echogenic bowel and the related pregnancy outcome. STUDY DESIGN: A retrospective study including 215 cases. Ultrasound findings included bowel abnormality, malformations, growth retardation and Doppler abnormalities. Amniocentesis was performed in 196 cases to screen for abnormalities in karyotype, cystic fibrosis gene and infection. The color of amniotic fluid and a history of first-trimester bleeding were also noted. Outcome according to different etiologies was reported. RESULTS: 112 cases (57%) had a known etiology, which included chromosomal abnormality (7%), infection (4%), cystic fibrosis (1.5%), bowel abnormality (3%), bleeding or stained amniotic fluid (11%), Doppler abnormality (14%), malformation (16%) and miscellaneous (0.5%). Pregnancy was terminated in 39 cases and fetal demise complicated one third of the cases (13) of severe growth retardation. CONCLUSION: Fetal echogenic bowel should be investigated and a careful follow-up is necessary if there is associated Doppler perturbation or growth retardation.

Female↗

PubMedDate not supplied

Isolated fetal hyperechogenic bowel associated with intra-uterine parvovirus B19 infection.

We report a case of fetal hyperechogenic bowel diagnosed at midgestation that was associated with fetal parvovirus B19 infection. Isolated hyperechogenic bowel was detected at 25 weeks. Cystic fibrosis, chromosomal abnormalities and cytomegalovirus infection were excluded, whereas polymerase chain reaction DNA for parvovirus B 19 was found positive on amniotic fluid. The hyperechogenic bowel decreased with complete resolution by 32 weeks of gestation. No other signs of fetal B19 infection were detected prenatally and the baby had normal postnatal outcome. This case provides additional arguments in favor of a possible intestinal tropism of parvovirus B19 during fetal life. Fetal B19 infection should be systematically incorporated in the prenatal evaluation of isolated fetal hyperechogenic bowel.

Adult↗