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Background: To examine disparities by maternal place of birth in the opportunity to make an informed choice about Down syndrome screening, in France, where the national guidelines recommend that physicians offer it to all pregnant women., Methods: We used population-based data from the nationally representative French Perinatal Surveys in 2010 and 2016 (N=24,644 women) to analyze the opportunity for an informed choice for prenatal screening, measured by a composite indicator., Results: Among the 24 644 women in the study, 20 612 (83.6%) were born in France, 861 (3.5%) elsewhere in Europe, 1550 (6.3%) in North Africa, and 960 (3.9%) in sub-Saharan Africa. The probability of screening was lower for women born outside France. After adjustment for survey year, maternal age, parity, education level, and the maternity unit's level of perinatal care, women born outside France had the opportunity to make an informed choice less often than women born in France. This association remained essentially the same even after excluding women without adequate prenatal care., Conclusions: Women born outside France, including those with adequate prenatal care, had less opportunity than women born in France to make an informed choice about prenatal screening for Down syndrome., (© 2021. The Author(s).)

Objective: Principal objective of this work was to analyse the cost effectiveness of different sequences of cytogenetic techniques from the hospital's point of view, after prenatal ultrasound has identified fetal malformations., Methods: Cytogenetic tests were performed for each case in 3 strategies, and their results are reported and compared to one reference strategy. Two new simulated strategies were considered: chromosomal microarrays alone and a direct test + CMA., Main Outcomes Measures: cost-effectiveness ratio., Results: A single test result was positive in 234 of the 835 pregnancies studied (28%). CMA alone would have identified 239 abnormalities. In the simulated direct test + CMA sequence, the direct test alone would have been positive for 66.1% of the abnormalities identified. When testing was indicated for NT, reference strategy (Direct + karyotyping) costs 1 084.8 euros by positive test results. Strategies Direct + CMA and CMA alone cost respectively 992.7 and 550.0 euros by positive test results. For OUM indications, reference strategy costs 2 937.8 euros by positive test results. Strategies Direct + CMA and CMA alone cost respectively, 2 118.4 and 1 304.7 euros by positive test results., Conclusions: CMA appears to be the most effective test for prenatal cytogenetic diagnosis of fetal abnormalities identified by ultrasound.

Objectives: The aim of this study was to evaluate the prevalence, the prenatal, and postnatal evolution of isolated fetal splenic cysts., Methods: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported., Results: Among 5450 cases of fetal anomalies, 14 patients (0.3%) had a prenatal diagnosis of fetal splenic cysts. Median gestational age at diagnosis was 30.1 weeks. A unique cyst was present in 78.6%, whereas 2 cysts were observed in 14.3% and 3 cysts in 7.1%. During the pregnancy, cysts remained the same (78.6%) or disappeared (21.4%). Ultrasound scans at 6 months of age found total disappearance of the cysts (36.4%), spontaneous reduction from 2 to 1 cyst (18.2%) or persistence of the cysts (45.4%)., Conclusion: Fetal splenic cysts are rare images, always isolated, usually unique and mainly found during third trimester of pregnancy. Their evolution is to disappear spontaneously during pregnancy or at 6 months of age leaving only half of them to remain beyond that age but without any symptoms., (© 2018 John Wiley & Sons, Ltd.)

Objective: Fetal serum β2-microglobulin has been shown to predict postnatal renal outcome in cases of fetal obstructive uropathy. We assessed the value of serial measurements of fetal serum β2-microglobulin in the prediction of postnatal renal outcome., Methods: We retrospectively studied renal outcome in 42 fetuses with bilateral or low urinary tract obstruction that had fetal blood sampling on at least two occasions to assay serum levels of β2-microglobulin. Amniotic fluid volume at the time of each sampling was recorded. We classified renal outcome as either favorable (when postnatal renal function was normal) or adverse (when postnatal chronic renal failure occurred or when renal dysplasia at autopsy was noted). A β2-microglobulin cut-off of 5 mg/L and amniotic fluid index of 5 cm were used to predict postnatal renal outcome., Results: Renal outcome was adverse in 28 cases and favorable in 14. In 12 (28.6%) cases, fetal serum β2-microglobulin concentration differed between the first and last measurement. Prediction of postnatal renal outcome was correct in 11 of these cases based on the last β2-microglobulin measurement. The sensitivity of β2-microglobulin in predicting renal outcome was significantly higher (P = 0.005) when using the last rather than the first measurement (96.4% vs 64.3%), with similar specificity for both measurements (85.7% vs 78.6%, non-significant). The sensitivity of amniotic fluid volume was also significantly higher (P = 0.005) when using the last rather than the first measurement (75.0% vs 35.7%), with similar specificity for both measurements (64.3% vs 71.4%, non-significant)., Conclusion: Sequential measurement of serum β2-microglobulin, performed for adverse ultrasound findings, such as renal parenchymal abnormality or decreasing amniotic fluid volume, predicts postnatal renal outcome more accurately than does a single assay. This may be due to possible worsening of renal injury with increasing duration of urinary tract obstruction. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd., (Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.)

Objectives: Selective Termination of Pregnancy (STOP) for discordant fetal condition in monochorionic twin pregnancy is a rarely performed procedure raising technical and ethical considerations. There are no epidemiological data available in France concerning STOP and no guideline or scientific consensus on how or when to perform has been published., Materials and Methods: We conducted a study of national practice using a declarative questionnaire sent by e-mail to each medical coordinator of every 48 Multidisciplinary Center for Prenatal Diagnosis in France. The questions focused on the issues of 2010 and 2011. Two reminders were sent in case of no answer., Results: The response rate to the questionnaire was 56 %; 81 % of centers have experienced at least once during the two years 2010-2011 a discordant fetal anomaly in monochorionic twin pregnancy. Only 59 % of centers perform all the techniques of STOP. When interruption of the umbilical blood flow is considered, bipolar forceps coagulation is the most used (75 %). Achieving STOP during a cesarean section is a common practice (75 % of centers). Locoregional anesthesia is the preferred mode of anesthesia for STOP., Discussion and Conclusion: STOP on monochorionic twin pregnancy is not practiced in all Multidisciplinary Center for Prenatal Diagnosis in France. The most widely practiced and most studied technique is bipolar forceps coagulation. The option of an expectant management should always be considered and its risks should be balanced with those of STOP. The practice of STOP during cesarean section is not unusual., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Background: The poisoning of carbon monoxide (CO) is the leading cause of death by poisoning in France. Its consequences are potentially serious to the fetus. Literature is ancient and little known., Purpose and Method: Make an inventory of knowledge about carbon monoxide poisoning during pregnancy., Result: The CO causes maternal then fetal tissue hypoxia primarily by binding to hemoglobin with which it has a high affinity. Its transplacental passage may cause fetal harm, predominantly in the brain. Severity seems correlated with maternal symptoms during exposure. In the absence of maternal symptoms, however, the available data are reassuring. Hyperbaric oxygen therapy may reduce the risk to the fetus., Discussion: Oxygen therapy should be offered in all cases of CO poisoning, especially if there are maternal symptoms during exposure. In addition, a fetal echography directed on the cephalic pole - even a fetal magnetic resonance imaging three weeks after exposure - should also be proposed., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Objectives: To investigate the determinants of Group B streptococcus (GBS) maternal colonization, as well as factors associated with its vertical transmission., Patients and Methods: Case-control study on all singletons pregnancies delivered beyond at least 24 weeks of amenorrhoea in Southern Reunion maternities for which GBS screening was known. Multiple logistic regression analysis using 2004-2007 dataset of South Reunion birth registers., Results: Out of 17,430 women delivered between 1st January 2004 and 31st December 2007, 2911 (16.7%) carried GBS. In a model adjusted on antenatal care, risk groups for GBS carriage were the women indigenous from another island of the Indian Ocean than Reunion (OR: 1.29, CI95%: 1.05-1.57) and obese women (body mass index ≥ 30, OR: 1.19, CI95%: 1.03-1.18). Protective factors included birthplace in mainland France (OR: 0.82, CI95%: 0.69-0.97) and underweight (OR: 0.81; CI95%: 0.69-0. 95). In a model controlling for a composite obstetrical variable delineating the protective roles of C-section and antibioprophylaxis as well as the putative role of meconium-stained fluids (thin, thick or fetid), all previously found in our setting, three key factors were independently associated with GBS vertical mother-to-child transmission: obesity (OR: 1.48, CI95%: 1.05-2.09), fetal tachycardia (OR: 4.92, CI95%: 2.79-8.68) and late preterm birth (35 to 36 wks, OR: 2.14, CI95%: 1.32-3.45)., Conclusion: These findings strengthen the putative roles of corpulence and ethnicity in GBS acquisition previously found in the United States, while confirming an authentic role of obesity in its vertical transmission, independently of other classical cofactors lighted by our study., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Objectives: To define where should twin pregnancies be managed and delivered., Materials and Methods: A literature search was performed using the Pubmed and Cochrane database. Foreign societies guidelines were also consulted., Results: There is little or no evidence to answer the question. Risk of premature labor and chorionicity are the two main factors involved in twin management. When there is a risk of prematurity, in utero transfer is recommended. Twin care must be performed by a team trained in the specificity of management according to chorionicity. There is not enough evidence to support specialized clinics. Labor and delivery need permanent and immediate disponibility of a perinatal team including an OB-gyn, an anesthesiologist and a pediatrician., Conclusion: Needs assessment and chorionicity are the best indicators to define the optimal place of care and delivery for twin pregnancies. More than a specific location, it seems more logical to define all necessary means to enforce an optimal management of these pregnancies., (Copyright © 2009 Elsevier Masson SAS. All rights reserved.)

Chorionic villous sampling (CVS) has been available for more than twenty years. Together with amniocentesis, it helps the cytogenetician to determine the fetal karyotype for prenatal diagnosis. The choice between these two methods depends on the team and the indication. CVS can now provide sufficient material for both histopathologic and cytogenetic analyses. We evaluated the accuracy of microscopic examination of CVS for detecting primary ovular, uteroplacental vascular (preeclampsia) and inflammatory disorders. Four hundred CVS were examined in the pathology laboratory of Pellegrin Hospital, Bordeaux, France, from January 1995 to February 2008. The results were analyzed according to the indication, the karyotype, the results of placental examination, pregnancy outcome and, when available (following spontaneous or medical termination), fetoplacental findings. The sample was representative of patients requiring CVS for prenatal diagnosis, with respect to maternal age, the stage of pregnancy, and the indications. When used to screen for preeclamsia (prevalence 29.6% in the sample), the sensitivity and specificity of placental biopsy were respectively 56.8% and 87.2% (76.9% in case of intra-uterine growth retardation). When used to screen for chromosomal aberrations (prevalence 7.4%), the specificity was 14.3% and the sensitivity 93.2%. The prevalence of other disorders, and particularly chronic intervillitis, was too low for meaningful analysis. This study shows that histopathologic analysis of chorionic villous samples is useful for detecting the utero-placental vascular origin of intrauterine growth retardation in the absence of other clinical, biological or ultrasound signs, and that it is complementary to cytogenetic analysis. Being a simple and inexpensive examination, histopathologic analysis of CVS could be performed systematically in this indication. Its value and diagnostic signs in other settings need to be determined in larger series.

Progress in prenatal diagnosis has led to more frequent detection of fetal abnormalities which, if left untreated, would be fatal or cause severe disabilities despite optimal postnatal care. Intrauterine surgery is possible in selected cases. Most procedures involve microendoscopy with local or regional analgesia. Fetal analgesia is indicated for procedures that are directly invasive for the fetus. Surgical treatment of twin-to-twin transfusion is so far the only example of successful fetal therapy, as demonstrated in a randomized controlled trial. The most severe forms of congenital diaphragmatic hernia may also benefit from temporary occlusion of the fetal trachea in order to allow lung growth and prevent pulmonary hypoplasia. The future of open fetal surgery will depend partly on the results of the ongoing MOM study of intrauterine coverage of myelomeningocele. These developments also raise ethical questions, including the competence of the surgical team, and the borderline between therapeutic innovation, experimental surgery, and standard of care. The possibility of therapeutic termination should not be overlooked.

The development of the Regional Plan for Health Organisation (SROS III) in the Nord-Pas-de-Calais has provided an opportunity for further reflection on the operation and organisation of professionals and structures in the field of prenatal diagnoses. The alleged claims resulting from this reflection process are not only integrated in the perinatal stream of the SROS but also in the objectives of the regional public health plan. The study which was carried out takes into account the regional data available, complemented by interviews with professionals working on the ground, which are then compared with national data. All of these elements contributed to the construction of proposals for an improved organisation of this regional management system, on the one hand curative and on the other preventive.

Preimplantation genetic diagnosis (PGD) purpose is to assess the genetic status of 3 day-old embryos. PGD offers thus to couples "at-risk" of a genetic disorder an earlier option to prenatal diagnosis (PND). At the beginning, PGD's indications, patients and law were very closed to PND, but PGD specificities are gradually raising. Particularly, indications vary considerably in countries where the absence of law authorizes all the practices. Some of these applications are moreover raising serious ethical issues. Even in France, where this activity is particularly supervised, the recent modification to the law marks this evolution.

Prenatal diagnosis is available for many lysosomal storage disorders (LSD) using chorionic villus samples or amniocytes. Such diagnoses can be problematical if sample transport and culture are required prior to analysis. The purpose of this study was to identify useful biochemical markers for the diagnosis of lysosomal storage disorders from amniotic fluid. Amniotic fluid samples from control (n=49) and LSD affected (n=36) pregnancies were analysed for the protein markers LAMP-1 and saposin C by ELISA, and for oligosaccharide and lipid metabolite markers by electrospray ionisation-tandem mass spectrometry. Lysosomal storage disorder samples include; aspartylglucosaminuria, galactosialidosis, Gaucher disease, GM1 gangliosidosis, mucopolysaccharidosis types I, II, IIIC, IVA, VI, and VII, mucolipidosis type II, multiple sulfatase deficiency, and sialidosis type II. Each disorder produced a unique signature metabolic profile of protein, oligosaccharide, and glycolipid markers. Some metabolite elevations directly related to the disorder whilst others appeared unrelated to the primary defect. Many lysosomal storage disorders were clearly distinguishable from control populations by the second trimester and in one case in the first trimester. Samples from GM1 gangliosidosis and mucopolysaccharidosis type VII displayed a correlation between gestational age and amount of stored metabolite. These preliminary results provide proof of principal for the use of biomarkers contained in amniotic fluid as clinical tests for some of the more frequent lysosomal storage disorders causal for hydrops fetalis.

Feto-maternal alloimmune thrombocytopenia (FMAIT) results from the maternal production of antibodies against fetal platelets with incompatible antigens inherited from the father. We present a case where this condition was diagnosed prenatally without previously affected siblings. The severe fetal thrombocytopenia was due to anti-HLA-5b maternal alloantibodies. This was treated successfully by intravenous immunoglobulins. Our case reflects that FMAIT due to anti-HPA-5b may be severe and may be corrected successfully with intravenous immunoglogulins.

Objective: To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP., Methods: AFP values below 2 microg/L and borderline values up to 3 microg/L were retrospectively analysed in 839 773 singleton pregnancies included in a programme for routine screening of trisomy 21 maternal serum markers., Results: Serum AFP was undetectable (< or =2 microg/L) in 8 cases, giving a frequency of 1/105 000. The calculated risk of Down syndrome was > or =1/250 in 5 cases. Fetal karyotype was normal. Seven of these pregnancies went to term (39-41 weeks) uneventfully, and birth weight was normal (3050-4110 g). In the 8th case, fetal death occurred at 35 weeks due to severe maternal diabetes. AFP levels between 2.1 and 3.0 microg/L were noted in 7 other cases. The calculated risk of Down syndrome was > or =1/250 in 5 cases, and fetal karyotype was normal. Pregnancies went to term in 4 cases (33-41 weeks), and birth weight was normal (3000-3380 g). In 3 cases, low hCG (<0.6 MoM) was associated with low AFP, and fetal death occurred at 15 to 16 weeks., Conclusion: Once technical errors have been excluded (repeat assay in a second run, calcium assayed to exclude the interference of EDTA for fluorimetric methods, dilution to exclude interfering antibodies, running on an alternative analyser, checking a second sample), very low second-trimester maternal serum AFP should prompt ultrasound examination in order to check fetal viability. Congenital AFP deficiency, an extremely rare disorder (1/100 000), should be suspected. It has no consequences for fetal and infant development, and parents should be reassured., (Copyright 2003 John Wiley & Sons, Ltd.)

Objectives: To assess the impact of a screening programme for haemoglobinopathies which was organised from 1978 to 1985 in high secondary schools of the Marseille region., Methods: Several variables that reflected the influence of this preventive programme on the uptake of prenatal diagnosis were investigated. To evaluate the partner's uptake for the testing, a letter was sent, together with an anonymous questionnaire, to all the haemoglobin carriers detected in this programme. To evaluate the number of prenatal diagnoses, the charts of all couples from the Marseille area who underwent genetic counselling for haemoglobinopathies were compiled. The number of affected children born between 1980 to 2000 was recorded, and the cases in which one of the parents had previously been screened at school were noted., Results: Half of the carriers replied to the questionnaire: 86% knew that they have to test their partner. Six carrier couples were identified, four asked for genetic counselling and requested eight prenatal diagnoses, two couples did not request genetic counselling and have had two affected children., Conclusions: Despite the time lapse between screening, informing, and pregnancy (mean 15 years), the information was well conserved and resulted in testing of the partner. The screening programme was effective in motivating requests for prenatal diagnosis.

From February to September 1993, we have established the serotype of group B Streptococcus (GBS) taken from diverse microbiological samples, in particular from gastric liquids. The method utilized was a technic of coagglutination (Dako Group B Streptococcus Serotyping Test, France) allowing the search for serotypes Ia, Ib, II, III, IV and V. All in all, 169 samples have been tested: 117 vaginal samples, 17 diverse samples, 26 gastric samples, 3 placentas and 7 ammmiotic liquids. Serotypes are spread as follow: III (41), II (33), Ia (26) et V (23).... Usually, serotype III was the most frequently found and the most virulent, particularly in infections in neonates.

The authors report their experience of 790 villous specimens taken either early (for 430 cases) or late (360 cases) between 10 and 37 weeks of amenorrhea (WA) using a transabdominal syringe. In the early choriocentesis cases, they conclude that use of the transabdominal route after 12.5 WA, regardless of the position of the chorion, makes it possible significantly to reduce the rate of fetal loss which becomes similar to that for amniocentesis. Placentocentesis has been used at later stages, either for high-risk couples as an alternative to amniocentesis (183 cases), or in cases of ultrasound abnormalities (177 cases) as an alternative to amniocentesis or cordocentesis. Placentocentesis makes it possible to obtain the fetal karyotype very rapidly within 1 to 2 days.

A prospective and retrospective study of the consequences of neonatal surgery started recently in a neonatal intensive care unit. After a prenatal diagnosis of a surgical malformation has been established, the importance of a meeting with parents, neonatologists and surgeons is stressed. The relationships between the family and the neonatal team were good, although sometimes the surgeons seemed to be "forgotten". The infant's pain was usually prevented. Infants were actively managed before surgery and after surgery their rhythms were better respected.

A multicenter study was able to utilize 120 medical files of children born from mothers who presented an abnormal thyroid function, 67 euthyroid goiters, 29 hyperthyroidisms, and 24 hypothyroidisms. In the first case, whether or not an inhibiting treatment was initiated, all children were perfectly normal. In case of maternal hyperthyroidism, the risk of malformations is not increased, deaths in utero and mostly in utero growth delays (1 case in 2) are more frequent. At birth, the child may present a hyperthyroidism due to the effect of SAT with elevated TSH and a goiter, sometimes compressing and impairing breathing, or also a hyperthyroidism due to transplacental crossing of stimulating immunoglobulins with possibility of thyreotoxic crises and heart failure. The diagnosis could be made in utero in the presence of tachycardia or with T4 and TSH assays in the cord. In case of maternal hypothyroidism, usually the children have no problems and the risk of neonatal hypothyroidism is mostly present in premature infants if the maternal balance is poor (2 in 24 cases in our series). Finally, in the reference population, the risk of neonatal hypothyroidism remains 1 in 3600 and justifies systematic screening on the 5th day of life.