Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009.

CONTEXT AND OBJECTIVE: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). METHODS: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. RESULTS: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). CONCLUSION: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis.

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

OBJECTIVE: 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 Children's Hospital of Philadelphia (CHOP) score on recipient survival in Quintero stages 1 and 2 TTTS. METHODS: The cohort study was based on prospectively collected data between May 2008 and February 2013 in a population of stages 1 and 2 TTTS. Comparisons between groups were carried out using Student's t-test and χ(2)-test. A stepwise ascending multivariate logistic regression model was then built. RESULTS: A total of 73 pregnancies in stages 1 and 2 of Quintero's classification were treated with laser. Rates of recipient fetal losses were higher when MPI was above 0.43 ms (71.4% vs 28.6%, p = 0.022). Rate of CHOP score above 5 was higher in the fetal loss group (28.6% vs 5.1%, p = 0.022). After adjustment for Quintero stages 1 or 2, the risk of recipient loss rate is higher according to CHOP score [OR 7.6; 95% confidence interval (CI) 1.3-43.5] or MPI value (OR 3.7; 95% CI 1.0-13.9). CONCLUSION: The CHOP score and MPI are correlated with the recipient survival in stages 1 and 2 TTTS.

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

OBJECTIVE: 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. METHODS: This is a cohort study based on data collected prospectively on singletons between 1 July 2011 and 1 February 2013. Mean cervical, isthmus and cervico-isthmic complex length were measured for deliveries before and after 37 weeks. RESULTS: A total of 1494 pregnancies were analysed, including 51 cases of spontaneous preterm delivery (3.4%). The cervico-isthmic complex in the first trimester was significantly shorter in patients who delivered before term (43.8 mm vs 47.5 mm, p = 0.04). This difference is related to differences in length at the isthmus (10.7 mm vs 14.1 mm, p = 0.005) rather than at the cervix proper (34.5 mm vs 35.0 mm, p = 0.56). CONCLUSIONS: Measurement of the cervico-isthmic complex enables detection of a number of patients who will go on to deliver before term. Further studies are necessary to confirm that isthmic length and not cervical length is predictive of preterm delivery.

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 ( or =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.

Acupuncture version of breech presentation: a randomized sham-controlled single-blinded trial.

BACKGROUND: Several studies have investigated the efficacy of moxibustion with or without acupuncture for fetal version, but the results are discordant. Meta-analyses pointed out the need for robust, methodologically sound, randomized controlled trials. OBJECTIVE: The objective of this study was to assess the effectiveness of acupuncture with fire needling on acupoint BL67 for version of breech presentation. STUDY DESIGN: This was a randomized, sham-controlled, single-blinded trial, which took place in Strasbourg teaching maternity hospital, France. A total of 259 patients between 32 and 34 weeks of gestation have been randomized and analyzed. Patients were randomized to either acupuncture with fire needling or sham group, and were analyzed in their initial allocation group. Statistical analysis was conducted using Bayesian methods, in univariate analysis and in multivariate analysis after adjustment on parity. RESULTS: The primary outcome was the rate of cephalic presentations at ultrasound examination performed between 35 and 36 weeks of gestation. A total of 49 (37.7%) fetuses were in cephalic presentation in the acupuncture group, versus 37 (28.7%) in the sham group: RR 1.34 [0.93-1.89], Pr RR>1=94.3%. After adjustment on parity, the acupuncture did not increase the rate of fetal cephalic version: OR 1.47 [0.84-2.42], Pr OR>1=90.3%. CONCLUSIONS: Our study suggests that acupuncture with fire needling on acupoint BL67 does not promote fetal cephalic version. Further studies might investigate effectiveness of other protocols of acupuncture. Randomization should be stratified for nulliparous and parous patients.

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 Hirschsprung's 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 mUPD7 is displayed.

Benefits of cord blood collection in the prevention of post-partum hemorrhage: a cohort study.

OBJECTIVE: The aim of this study was to assess the benefit of umbilical cord drainage through cord blood collection (CBC) for the prevention of post-partum hemorrhage (PPH). METHODS: This is a retrospective cohort study based on data collected prospectively including all vaginal delivery of singletons pregnancies after 37 weeks of gestation between July 2011 and May 2013 at the Strasbourg Teaching Hospital. We performed a univariate comparison of PPH risk factors with χ(2) tests and then we built multivariate logistic regressions to predict PPH, severe PPH (>1000 cc), retained placenta over 30 min and manual removal of the placenta. RESULTS: A total of 7810 vaginal deliveries were analyzed, among which 1957 benefited from CBC (25%). In the CBC group, 71 PPH (3.6%) were observed versus 260 (4.4%) in the control group (p = 0.12). In multivariate analysis, after adjustment on PPH risk factors, CBC revealed to be a protective factor of PPH: OR = 0.69 (95% CI 0.50-0.97; p = 0.03). CBC is neither a significant predictive factor of severe PPH, time to placental delivery nor rate of manual removal of the placenta. CONCLUSIONS: In our study, CBC and thus umbilical cord drainage was a protective factor against PPH but it did reduce neither retained placenta nor the need for artificial placental delivery.

Prediction of spontaneous preterm delivery in the first trimester of pregnancy.

OBJECTIVE: To develop a model for predicting premature delivery before 37 weeks' gestation based on maternal factors, obstetric history and biomarkers in the first trimester of pregnancy. STUDY DESIGN: Cohort study based on data collected prospectively between 1 January 2000 and 30 November 2011. Multivariate logistic regression was used to construct a model of the risk of premature delivery. RESULTS: 31,834 pregnancies were included, of which 1188 cases were spontaneous premature deliveries before 37 weeks (3.7%). We built a predictive model based on maternal age, body mass index, smoking status and previous obstetric history. This could identify 23.3% of premature deliveries in our study population, with a false positive rate of 10%. In the group of patients who had already had at least one pregnancy at or beyond 16 weeks, the detection level increased to 29.7%. The positive predictive value was 7.4 and 7.3% respectively, while negative predictive value was 97.2 and 97.9%. CONCLUSIONS: Predicting preterm delivery on the basis of maternal characteristics and obstetric history needs to be further improved. PAPP-A levels and ultrasonographic measurement of cervical length could not be integrated in the model but require further investigations.

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.

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.

How important is consent in maternal serum screening for Down syndrome in France? Information and consent evaluation in maternal serum screening for Down syndrome: a French study.

OBJECTIVES: To evaluate the level of information and informed consent for maternal serum screening (MSS) for Down syndrome (DS) in the second trimester of pregnancy and analyse the exercise of autonomy towards the test by the women concerned. METHODS: We studied the population of pregnant women attending obstetric consultations in two French hospitals over a 3-month period. The women were assigned to three groups according to MSS results for DS: women at high risk of having a child with DS (group 1), women at low risk (group 2) and women who did not undergo the test (group 3). A questionnaire was completed before the medical consultation, to assess the quality of consent before amniocentesis for the group at high risk and before the second-trimester ultrasound scan for the other two groups. RESULTS: We analysed 305 questionnaires for 89, 137 and 79 women belonging to groups 1, 2 and 3 respectively. In total, 123 women (40.3% [IC 95%, 35-46%]) were considered to be well informed; 33 (10%, [IC 95%, 8-12%]) had a high level of knowledge, but made choices not consistent with their stated attitude, and 149 (49.7% [IC 95%, 45-56%]) were considered uninformed. Logistic regression analysis showed that maternal consent depended on three independent components: The score attributed to the doctor for information about MSS (t = 4.216, p < 0.001). Whether the patient belonged to group 1 (t = -2.631, p < 0.009). Educational level (< high-school diploma, high-school diploma or at least two years of higher education after high school) (t = 2.324, p < 0.02). The rate of consent increased with educational level and was highest for the women in group 1 and for those whose doctor had a high information score. CONCLUSIONS: Our findings clearly show that women are provided with insufficient information concerning MSS screening for DS in the second trimester of pregnancy for real and valid consent to be obtained.