Brigitte Viville

Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases.

The purpose of this study was to evaluate the foetal sonographic efficiency for prenatal diagnosis of osteochondrodysplasias. Forty-seven prenatal and postnatal cases diagnosed between January 1993 and December 1998 in the referral sonographic centres of Strasbourg were studied. All cases were reviewed retrospectively and the prenatal ultrasound findings and diagnosis were compared to the postnatal or post-mortem diagnosis. Each case was studied by ultrasonographers, geneticists, radiologists, and foetopathologists. Final diagnosis was based on clinical examination, skeletal survey and molecular testing as deemed necessary. Routine screening and dating was the indication for foetal sonography in 72% (32/47) of our cases. The most likely time of diagnosis was between 16 and 24 weeks of gestation (17 out of 47 cases, 36%), which corresponds to the time of foetal anomaly sonographic scan in France. The other cluster of cases (12 among 47, 26%) was disclosed before 16 weeks of gestation. These results illustrate the importance of a detailed evaluation of the limbs during sonographic examinations of first and second trimesters of pregnancy. While the identification of skeletal dysplasias was relatively easy in our study, the ability to make an accurate specific antenatal diagnosis was more difficult. An accurate diagnosis was proposed in 28 of the 47 cases (60%). In 19% of the cases (9/47), the prenatal diagnosis was not accurate; in 21% of the cases (10/47), the prenatal diagnosis was imprecise. In 45 of the 47 cases (96%) prenatal foetal scan correctly predicted the prognosis.

What about Informed Consent in First-Trimester Ultrasound Screening for Down Syndrome?

Objectives: We evaluate the level of information and informed consent given for the screening of Down syndrome (DS) before the first-trimester ultrasound scan. We evaluate the nature of the medical information given and the patient’s understanding. This makes it possible to analyze the existence of the necessary elements (level of information and consent) for the patients to exercise their autonomy as to their decision making during the first-trimester ultrasound scan. Methods: A total of 350 patients were recruited prospectively in 2 hospitals. Patients were divided into 3 groups according to the results of maternal serum screening for DS. Group 1: Patients at high risk of having a child with DS with the second-trimester maternal serum screening (MSS) (risk >1/250). Group 2: Patients having a low risk (risk <1/250). Group 3: Patients who did not undergo maternal serum screening test. A questionnaire was completed before the medical consultation, to assess the quality of the medical consultation before the ultrasound, the level of prior knowledge and the maternal consent. Results: We excluded 45 of the 350 questionnaires from the analysis because they were incomplete (13.1%). We therefore analyzed a total of 305 questionnaires. The three groups analysed were: Group 1: 89 patients (29.2%) identified as at high risk after MSS. Group 2: 137 patients (44.9%) identified as at low risk accordingly to MSS. Group 3: 79 women (25.9%) who did not undergo maternal serum screening test for diverse reasons. The frequency of genuine informed consent was significantly (p < 0.001) higher in group 3 (56.9%) than in group 1 (52.8%) or group 2 (32.1%). Finally, the number of completely uninformed patients was significantly higher in group 2 (18%) than in the other two groups (7.8% for group 1 and 6.3% for group 3, p < 0.001). With multiple regression analysis, we found that maternal consent depended on 4 independent components: (1) Educational level (<baccalaureate, baccalaureate or at least 2 years of higher education after baccalaureate) (p < 0.03). (2) The location of consultations (hospital or private doctor’s practice) (p < 0.01). (3) History of medical termination (p < 0.001). (4) The score attributed to the doctor for information about early ultrasound scans (p < 0.001). The rate of consent increased with increasing educational level and was higher for women consulting at a hospital, for women with a history medical termination and for women whose doctors had a high score. Other criteria such as belonging to group 1, 2 or 3, age of the patient, first language, number of children, history of miscarriage, sex and age group of the professionals were not found significant. Conclusions: The response to the question ‘Is the level of medical information provided to patients concerning early screening by first-trimester ultrasound scans appropriate?’ is ‘no’. There is no difference in our result according to social-economic level. However, educational level (66% consent for patients with 2 years of higher education after the baccalaureate), a history of medical termination (85% consent), being followed at a hospital (77% consent) and the score of the doctor (71% consent) were all significantly associated with the level of consent to prenatal screening. It is difficult for patients to exercise their autonomy as concerns first-trimester ultrasound scans. Too many patients (82%) consider such scans to be compulsory. Overall, the level of knowledge of the patients was moderate, with 227 of the 305 patients (74%) having a satisfactory knowledge score (≧10). The negative responses to the various questions calls into question the legitimacy of consent for first-trimester ultrasound scans, particularly as concerns the measurement of nucal translucency.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

Prenatal trisomy 7 is usually a cell culture artifact in amniocytes with normal diploid karyotype at birth and normal fetal outcome. In the same way, true prenatal trisomy 7 mosaicism usually results in a normal child except when trisomic cells persist after birth or when trisomy rescue leads to maternal uniparental disomy, which is responsible for 5.5–7% of patients with Silver–Russell syndrome (SRS). We report here on the unusual association of SRS and Hirschsprungs disease (HSCR) in a patient with maternal uniparental heterodisomy 7 and trisomy 7 mosaicism in intestine and skin fibroblasts. HSCR may be fortuitous given its frequency, multifactorial inheritance and genetic heterogeneity. However, the presence of the trisomy 7 mosaicism in intestine as well as in skin fibroblasts suggests that SRS and HSCR might possibly be related. Such an association might result from either an increased dosage of a nonimprinted gene due to trisomy 7 mosaicism in skin fibroblasts (leading to SRS) and in intestine (leading to HSCR), or from an overexpression, through genomic imprinting, of maternally expressed imprinted allele(s) in skin fibroblasts and intestine or from a combination of trisomy 7 mosaicism and genomic imprinting. This report suggests that the SRS phenotype observed in maternal uniparental disomy 7 (mUPD(7)) patients might also result from an undetected low level of trisomy 7 mosaicism. In order to validate this hypothesis, we propose to perform a conventional and molecular cytogenetic analysis in different tissues every time mUPD(7) is displayed.

Prenatal diagnosis of congenital epulis. A case study.

Congenital granular epulis is a rare benign tumour situated on the alveolar ridge, which usually presents as a single tumour of variable size. Prenatal diagnosis of epulis has rarely been reported in medical literature. A possible complication is airway obstruction, which is essentially determined by the size of the tumour. Because of the potential risk of neonatal respiratory distress, prenatal diagnosis is valuable in the organization of a safe delivery. The case presented here is the prenatal diagnosis of a congenital epulis discovered in the 32nd week of pregnancy.

Predictive value of cardiovascular parameters in twin‐to‐twin transfusion syndrome

To evaluate the prognostic value of the Childrens Hospital Of Philadelphia (CHOP) cardiovascular score and the modified myocardial performance index (MPI), in determining the risk of recipient fetal loss in twin‐to‐twin transfusion syndrome (TTTS).

Predictive value of cardiovascular parameters in stages 1 and 2 of twin-to-twin transfusion syndrome

The Quintero staging of twin‐to‐twin transfusion syndrome (TTTS) does not include a comprehensive cardiovascular assessment. The aim of this study is to assess the predictive value of the myocardial performance index (MPI) and the Childrens Hospital of Philadelphia (CHOP) score on recipient survival in Quintero stages 1 and 2 TTTS.

Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases.

Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that vary widely in expressivity. Lymphatic dysplasia induced during the embryonic stage might interfere with tissue migration. Our hypothesis is that the earlier the edema, the more severe postnatal phenotype.

What is predictive of preterm delivery in the first trimester: isthmus or cervical length?

This study aims to evaluate the utility of first trimester cervical ultrasonography in predicting preterm delivery by separate analysis of measurements of cervical and isthmus length.

Acupuncture for breech version: Principles, technique, mode of action and utility – A literature review

OBJECTIVE Version to correct breech presentation at term remains important, because feet-first vaginal delivery of a baby is associated with a higher risk of fetal morbidity and mortality. METHOD The technique consists of puncture at point B67. This technique is thought to work by increasing the probability of the fetus turning by increasing active fetal movements. RESULTS Five randomised studies evaluating the value of acupuncture in cases of siege presentation indicate that this method tended to be effective. However, no placebo-controlled study has been carried out. CONCLUSION Acupuncture should be attempted in cases of breech presentation.