Evaluation of Sequential Urine Analysis when Selecting Candidates for Vesicoamniotic Shunting in Lower Urinary Tract Obstruction.

OBJECTIVE: The objective of our study was to assess the utility of sequential fetal urine analysis in severe lower urinary tract obstruction (LUTO) when selecting cases suitable for vesicoamniotic shunting. MATERIAL AND METHODS: This was a retrospective cohort study of cases of severe LUTO treated in our fetal medicine center from 1994 to 2013. Two fetal bladder samples were taken 24-48 h apart to assess renal function. A vesicoamniotic shunt was inserted in case of improvement in urinary biochemistry between the 2 samples. We assessed perinatal morbidity and mortality and renal function at 5 years. RESULTS: Among a total of 26 LUTO cases with sequential urine analysis, 5 showed normal urinary biochemistry, 13 were abnormal, and 8 improved between the 2 samples. These 8 cases underwent vesicoamniotic shunt placement, leading to the birth of 6/8 (75%) live infants, 5/6 (83%) of whom had normal renal function at 5 years. The 5 cases with normal biochemistry occasioned 2 neonatal deaths and 3 children with normal renal function at 5 years. Elective termination of pregnancy was requested by parents for the fetuses exhibiting abnormal biochemistry. CONCLUSION: An improvement in urinary biochemistry between 2 sequential fetal bladder punctures in severe LUTO could be an effective criterion in the selection of candidates for vesicoamniotic shunting. However, the benefit of a shunt in fetuses with normal amniotic fluid remains to be evaluated in clinical trials.

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin and limbs. Although FDH has been described in children and adults, the cardinal signs of the fetal phenotype are not straightforward impacting the quality of the prenatal diagnosis. We describe in depth the ultrasound, radiological, macroscopical, and histological phenotype of three female fetuses with a severe form of FDH, propose a review of the literature and an attempt to delineate minimal and cardinal signs for FDH diagnosis. This report confirms the variability of FDH phenotype, highlights unreported FDH features, and allows delineating evocative clinical associations for prenatal diagnosis, namely intrauterine growth retardation, limbs malformations, anterior wall/diaphragm defects, and eye anomalies. © 2016 Wiley Periodicals, Inc.

Evaluation of prenatal and postnatal diagnostic criteria for twin anemia-polycythemia sequence.

OBJECTIVE: The aim of this study is to analyze the relevance of the prenatal and postnatal diagnostic parameters of twin anemia-polycythemia sequence (TAPS). METHODS: Diagnostic data of all cases of TAPS followed in our institution between 2006 and 2013 were reviewed. Statistical analyses were conducted using Bayesian methods. RESULTS: Twenty cases of TAPS were included. We found a relationship between the hemoglobin level and the middle cerebral artery peak systolic velocity (coefficient -0.25 [-0.34, -0.15], Pr(coef < 0) = 99.99%). Sensitivity and specificity of the prenatal diagnosis were 71% and 50%, respectively, regarding the correspondence with postnatal diagnosis. There was no correlation between the number [odds ratio (OR) = 0.89 [0.72, 1.10], Pr(OR > 1) = 14.8%)], the mean diameter (OR = 0.98 [0.32, 3.06], Pr(OR > 1) = 48.9%), or the total diameter (OR = 0.79 [0.36, 1.53], Pr(OR > 1) = 26.3%) of arteriovenous anastomoses and the severity of TAPS. CONCLUSION: Middle cerebral artery peak systolic velocity is a reliable tool for estimating the hemoglobin level in cases of TAPS. The correspondence between prenatal and postnatal diagnosis is imperfect. Further studies are required to evaluate opportunity of widening postnatal diagnostic criteria. © 2014 John Wiley & Sons, Ltd.

Evaluation of the Utility of in utero Treatment of Twin Anemia-Polycythemia Sequence.

OBJECTIVE: The aim of this study is to evaluate the interest in the in utero treatment of twin anemia-polycythemia sequence (TAPS). METHODS: The obstetrical and neonatal data on all cases of TAPS followed up in our institution between 2006 and 2013 were reviewed. Statistical analyses were conducted using Bayesian methods. RESULTS: Twenty cases of TAPS were included. Laser therapy or intrauterine transfusion (IUT) was performed on the donor twin in 9 cases. Eleven cases were included in the 'nontreated' group (managed expectantly or diagnosed at birth). The gestational age at diagnosis was lower in the group with treated TAPS [difference (diff) = -22.20 days (-57.13, 14.28), probability (Pr) (diff >0) = 10.6%]. The rate of preterm premature rupture of membranes was higher in the group with treated TAPS [diff = 22.5% (-14, 57), Pr (diff >0) = 89%], but overall mortality was similar. The interval between diagnosis and delivery was longer [diff = 44.37 days (9.41, 77.90), Pr (diff >0) = 99.2%], the TAPS resolution rate was higher [diff = 49.9% (12, 81), Pr (diff >0) = 99.4%], and the neonatal transfusion rate was lower [diff = -30.5% (-60, 0), Pr (diff >0) = 2.6%] in the treated group. CONCLUSION: In utero treatment for TAPS is associated with a higher resolution rate of TAPS and a longer time between diagnosis and birth, but overall mortality is the same as with expectant management.

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.

Vascular pattern in monochorionic placentas with spontaneous TAPS and TTTS with residual anastomoses after laser: a case-control study.

OBJECTIVE: This study aimed to compare the angio-architecture of monochorionic placentas of spontaneous twin anaemia-polycythemia sequence (TAPS) with placenta of twin-to-twin transfusion syndrome (TTTS) with residual anastomoses after laser coagulation and placentas of uncomplicated monochorionic twin pregnancies. METHODS: This case-control study compares the angio-architecture of monochorionic placentas of spontaneous TAPS (n = 12) with that of monochorionic placentas of TTTS treated by laser coagulation with residual anastomoses (TTTS + RA; n = 20) and placentas of monochorionic pregnancies without complications (n = 24), matched for gestational age. Placental sharing and angio-architecture were assessed by injection of colored dye. RESULTS: The median diameter of the arterio-venous (AV) anastomoses in TAPS placentas was 2.26, 0.215 with TTTS + RA and 4.17 mm in normal monochorionic pregnancies (p < .03). The mean diameter of the arterio-arterial (AA) anastomoses in monochorionic placentas with spontaneous TAPS was 0.2 mm versus 0.15 mm in TTTS + RA and 2.0 mm in normal pregnancies, respectively (p < 0.03, p < 0.007). The number of AA anastomoses was lower with TAPS (0.3 versus 0.50 and 1, respectively, p < 0.015, p < 0.0001). Besides, unequal sharing was more frequent in TAPS as compared with monochorionic normal pregnancies (75% versus 29%, p = 0.03). CONCLUSION: Age matched placentas of spontaneous TAPS are characterized by very small AV anastomoses and very few AA anastomoses of smaller diameter than placentas of monochorionic twins with TTTS or without obvious complications.

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.

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries.

BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year. METHODS: The cases were retrospectively identified through two French population-based birth defect registries (Auvergne and Bas-Rhin) between 1995 and 2013. Stillbirths and fetuses up to 22 weeks of gestation and infants up to 1 year old with URA were included. RESULTS: A total of 177 cases of URA were registered. The prevalence at birth was 4.0/10,000. The overall prenatal prevalence was 3.6/10,000 (isolated URA: 2.8/10,000). URA were isolated (59.9%), associated with isolated contralateral congenital anomaly of kidney or urinary tract (CAKUT) (7.3%) and with other extra-renal anomalies (32.8%). The total proportion of contralateral CAKUT was 15%. Only three cases presented an aneuploidy, prenatally detected and conducting to a termination of pregnancy. The sensitivity of prenatal diagnosis improved over time (from 54.2% in 1995 to 1997 to 95.8% in 2010 to 2013; p = 0.002). CONCLUSION: Our study provides estimates of prevalence of URA at birth. A longitudinal cohort from the antenatal period to puberty should be performed to determine the prognosis of the contralateral kidney among these children with isolated, associated with contralateral CAKUT and URA with extra-renal anomalies. Birth Defects Research 109:1204-1211, 2017. © 2017 Wiley Periodicals, Inc.

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.

Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome.

BACKGROUND: Pallister-Killian syndrome (PKS) is a multiple malformation syndrome caused by a chromosomal abnormality in which the presence of four copies of the short arm of chromosome 12 results in severe mental retardation. Cytogenetic diagnosis is particularly difficult due to the specific tissue distribution of the abnormality. PKS may be suspected based on the prenatal ultrasound detection of polyhydramnios and diaphragmatic hernia, possibly associated with rhizomelic micromelia. METHOD AND RESULTS: We report here a case of PKS in which the 3D ultrasound examination of facial features after prenatal PKS diagnosis showed signs suggestive of the syndrome. CONCLUSION: A detailed 3D examination of the fetal face may help to guide diagnosis, particularly when the only sign detected on ultrasound is polyhydramnios, as in the case reported here.

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.

Prenatal sonographic diagnosis of the 49,XXXXY syndrome.

The 49,XXXXY syndrome is a rare sex chromosome anomaly with an approximate incidence of 1 in 85,000 male live births. The diagnosis is usually ascertained postnatally by the association of mental retardation, variable growth deficiency, Down syndrome-like facial dysmorphy, hypogenitalism and other malformations, especially involving the heart and skeleton. Prenatal diagnosis of the pentasomy 49,XXXXY is generally fortuitous and sonographic features have rarely been described in the literature. We report here on two cases of 49,XXXXY syndrome diagnosed prenatally because of sonographic abnormalities. In the first, amniocentesis was performed at 26 weeks' gestation for polyhydramnios, unilateral clubfoot and micropenis. In the second, a karyotype was carried out on chorionic villi at 13 weeks' gestation for cystic hygroma. These observations and the six previously reported cases demonstrate that cystic hygroma in first or second trimester of pregnancy may be associated with sex chromosome aneuploidy other than Turner syndrome. Moreover, they emphasize the importance of detailed sonographic examination in the second trimester, as small penis and abnormal posturing of the lower extremities are very suggestive of the 49,XXXXY syndrome.