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Fetal myelomeningocele surgery was introduced in France in 2014. Developments in prenatal diagnosis of neural tube defects have accompanied the development of prenatal diagnosis. This fetal surgery represents one of the three possible care paths for pregnant women faced with this prenatal diagnosis. The ethical issues of this fetal surgery are discussed and in particular regarding prenatal counselling and patient autonomy of choice.

Performing a feticide as part of termination of late pregnancy is recommended in many countries. Feticide avoids a live birth of a severely affected premature newborn and prevents fetal pain. There are limited data on feticide procedures since only a few countries in the world authorize late termination of pregnancy. The objective of this review was to assess the most appropriate feticide procedure based on published data during the last thirty years. Administration of an initial fetal analgesia followed by a lethal lidocaine injection through the umbilical cord, under ultrasound guidance, appears to be the most effective, safe and ethical way to perform feticide. According to the current knowledge regarding the risk of fetal pain and survival of extremely preterm infants, a feticide should be discussed as early as 20-22 weeks of gestation.

Intra-abdominal calcifications (iAC) detected during fetal ultrasound examinations are characterized by their isolated or associated nature, as well as their location. Our objective was to describe all cases of isolated iAC along with their etiological investigations and neonatal outcome, during a 10-year practice in a referral center.We conducted a retrospective descriptive monocentric study on neonates diagnosed with isolated iAC after antenatal expert ultrasound scan and referred to the Multidisciplinary Center for Prenatal Diagnosis at Trousseau Hospital and born between January 1st, 2008 and June 30th, 2018. The exclusion criteria were: retroperitoneal calcifications, iAC associated with other digestive abnormalities or with congenital malformations.The 32 isolated iAC cases accounted for 46% of all iAC. Nine cases were excluded for missing neonatal data. Among the 23 remaining isolated iAC cases, we observed 15 intra-hepatic calcifications, 5 peri-hepatic and two peritoneal calcifications. One fetus had both intra- and peri-hepatic calcifications. The majority of iAC remained stable throughout pregnancy. No cases of aneuploidy, fetal infection, or cystic fibrosis were detected. The neonatal outcome was favorable in all cases.In case of isolated and stable iAC after expert ultrasound scan, after having ruled out infectious diseases of the fetus and looked for the most frequent mutations of cystic fibrosis in the parents, the prognosis is favorable. Fetal karyotyping is recommended when additional structural anomalies are present.

The systematic use of ultrasound during pregnancy aims at birth defect detection. Our objective was to assess the economic efficiency of prenatal ultrasound screening for fetal malformations.We carried out a literature review on Medline via PubMed between 1985 and 2015, from the economic perspective of the prenatal ultrasound screening for fetal malformations.The literature on this subject was sparse and we selected only twelve articles presenting relevant economic data, of which only eight were proper medico-economic studies. We found arguments for the economic effectiveness of ultrasound screening for fetal malformation detection, which is largely linked to the terminations of pregnancies and to the cost of the handicaps "avoided". However, none of the reviewed articles could reach medico-economic conclusions. Additionally, we highlighted various elements making economic analyses more complex in this field: the choice of the method, the uncertainty around two essential parameters (the efficiency of ultrasound and the costs of procedures) and the difficulties to compare or to generalize results. We also noticed important methodological heterogeneity among the studies and the absence of French study.Previously published data are insufficient to assess the economic efficiency of prenatal ultrasound screening for fetal malformations.

The aim of our study was to evaluate in utero blood transfusion's (IUT) performed in France, among the French prenatal diagnosis centers in order to study the etiology of severe anemia requiring IUT.We conducted a national retrospective descriptive study between 2011 and 2014. The data were collected using a survey sent by email to all French prenatal diagnosis centers.Among the 49 centers, 18 (38 %) had performed at least one IUT during the study period. The geographical repartition of these centers was appropriate for the "Aquitaine Pyrénées" region. Five centers performed 68 % of the national activity and one center performed 40 % the national activity. Each year, a mean of 204 IUTs were performed in 113 pregnancies. The principal etiology of severe fetal anemia requiring IUT was hemolytic disease of the fetus (69 % of the etiologies) with anti-RhD being the most prevalent antibody. The second etiology was represented by parvovirus B19 infection (17 % of IUTs).The French IUT activity was stable in numbers and indications during the study period. A national register could be set up in order to better evaluate prospectively the number of pregnancies concerned by IUT and to study the prevalence of hemolytic disease of the fetus due to anti-RhD antibodies.

The objective of this study was to establish a simple and reproducible method for the assessment of the fetal head position when measuring crown-rump length (CRL) at the nuchal translucency scan.Two observers conducted a retrospective analysis of a consecutive series of 570 images of CRL collected by the French College of Fetal Echography (CFEF) national practice assessment program for the first-trimester scan. The images were deemed hyper-flexed if no fluid was visible between the chin and the chest of the fetus. The images were deemed hyper-extended if the angle between the palate and the CRL line was 90° or more. The images were deemed neutral if no hyper-extension nor hyper-flexion was observed.The proportion of agreement for a non-neutral position of the fetal head was 91.3% (kappa=0.80, 95% CI [0.75 to 0.86]). Images with a non-neutral position corresponded to poor CRL quality images according to the CFEF score (relative risk=4.2, 95% CI [2.9 to 6.1] for one observer and 4.9, 95% CI [3.3 to 7.2] for the other observer). Proportions of agreement for the hyper-flexion and for the hyper-extension were 94.6% (kappa=0.80, 95% CI [0.72 to 0.87]) and 96.8% (kappa=0.81, 95% CI [0.72 to 0.90]), respectively. No additional lines were drawn on the ultrasound images during the evaluation process.The proposed method for evaluating the extent to which the fetal head has a non-neutral position at measurement of the CRL appears both simple and reproducible.

The objective of this study was to establish a minimum subset of simple criteria for the self-assessment of the quality of first-trimester ultrasound images of nuchal translucency (NT) and crown-rump length (CRL).We designed 162 simplified image-scoring methods (ISM) based on 1, 2, 3 or 4 binary criteria derived from the 8 criteria of the original image scoring method of the French College of Fetal Ultrasound (CFEF). These ISM were assessed on 68,250 consecutive scans of the French national audit conducted by the CFEF on NT and CRL images. The ISM associated with the best precision to identify excellent/reasonable quality scans were selected.Simplified ISM based on 1, 2, 3 and 4 criteria showed maximum positive predictive values of 95.3% (95.11-95.50) 98.0% (97.87-98.14), 99.3% (99.17-99.35) and 99.7% (99.68-99.79), respectively, to identify excellent/reasonable quality scans. The proportion of excellent/reasonable scans was 2.8 to 16.7% when three criteria among the 8 were insufficient, and 0.17 to 3.95% when four criteria were insufficient.The best performing ISM was based on the following four quality criteria: (i) sagittal plane of the NT, (ii) calipers placement for measuring the NT, (iii) image magnification of NT images and (iv) CRL measurement. This score might be the most relevant in clinical practice in the first-trimester screening.

To present the preliminary results of the PRIUM study, a French pilot study of prenatal repair for myelomeningoceles (MMC).The fetal surgery for MMC is offered in cases of patients that did not opt for termination of pregnancy.Thirty-six patients were referred in an 18-month period. Eight patients were not eligible for prenatal repair. Another type of dysraphism was made in 6 cases (one spina-lipoma, 5 cases of limited dorsal myeloschisis). Twenty-two patients were eligible to fetal surgery. A prenatal repair was performed in three cases (14%). Four patients opted for a conventional postnatal treatment. Fifteen patients opted for termination of the pregnancy.The establishment of a prenatal repair of MMC protocol in France was justified. The experience of the first 18months of this study however suggests that only a limited number of couples will choose this procedure after specialized counseling in a reference center.

Both the improvement of pathophysiological knowledge of major fetal anomalies and the development of therapeutic tools have allowed in some specific cases in utero therapy by foetoscopy. We discuss the state of art and recent advances for four major anomalies: twin-to-twin transfusion syndrome, congenital diaphragmatic hernia, myelomeningocele and lower urinary tract obstruction. Fetoscopic laser surgery for twin-to-twin transfusion syndrome has become the gold standard for treatment of TTS. In terms of fetal surgery, severe congenital diaphragmatic hernia and myelomeningocele are the two main indications, even if open fetal surgery is still the gold standard for management of myelomeningocele. New techniques using fetal cystoscopy are currently under development. Although the maternal morbidity associated with foetoscopy is low, preterm rupture of membranes and preterm delivery remain an important problem. Long-term evaluation of those neonates remains mandatory.

Myelomeningocele is characterized by the extrusion of the spinal cord into a sac filled with cerebrospinal fluid. One part of the postnatal disabilities could be related to the spinal damage and to the cerebral repercussion of the leak of cerebrospinal fluid from the defect. Several experimental studies in animals have demonstrated that a surgical repair of the lesion at middle gestation reduced the postnatal disabilities. These results were confirmed in humans by the Management of Myelomeningocele (MOM) Trial. However, the prenatal surgical repair is associated with maternal and fetal morbidity.

To evaluate the management of prenatally diagnosed cleft lip with or without cleft palate and the immediate postnatal outcome.Retrospective study of all cases of cleft lip with or without cleft palate referred to our fetal medicine unit, between January 2005 and January 2011. The anatomical type of cleft, associated malformations, and the postnatal outcome were reviewed.Forty-three cases of fetal cleft lip with or without cleft palate were reviewed. The mean gestational age at diagnosis was 24 weeks ± 4. The postnatal distribution of clefts was: 30 cleft lip and palate (70%) and 13 cleft lip (30%). The prenatal diagnosis of the cleft type was exact in 27 cases (62.8%). Nine cases had associated anomalies (21%), detected prenatally in three cases (37.5%). There was no karyotypical abnormality. Six pregnancies were terminated (14%). The immediate postnatal outcome was comparable with unselected newborns.The prenatal diagnosis of cleft lip with or without cleft palate is correct, with two thirds of exact diagnoses. Large clefts palate are the best detected. Associated malformations cannot always be diagnosed by prenatal ultrasound, but have to be searched for because they modify the fetal outcome.

Rupture of membranes (ROM) occurs frequently and requires specific management depending on gestational age in order to avoid maternal and fetal complications. In 80% of cases, ROM is associated with large amniotic fluid (AF) leakage making diagnosis easy. The aim of the current review is to precise which biological test is useful for the physician facing ambiguous clinical picture. Vaginal pH assessment demonstrates alkalinisation (6.5-7.5) when AF is present (sensitivity 73-91%, specificity 72-83%). Drying test, fern test or fetal cells staining have been supplanted by detection of AF proteins. Diamine oxidase activity required specific radioanalytical assay leading to restrictive use and progressive abandon. Immunoassay tests detecting Insulin-like Growth Factor-Binding Protein-1 (IGFBP-1) or Placental Alpha 1-Microglobulin (PAMG-1) are currently considered as the most useful tools for ROM diagnosis. Literature fails to provide sufficient evidence that one of these two approaches should be favoured. Distinction between IGFBP-1 and PAMG-1 remains controversial as they seem to correspond to the same molecule.

To describe the outcome of neonates with prenatal intestinal volvulus.All neonates with prenatal intestinal volvulus managed in our institution between May 2004 and December 2010 were retrospectively studied. All neonates with prenatal or neonatal diagnosis of prenatal intestinal volvulus were included. We analyzed age at diagnosis, fetal ultrasound (US) scan and magnetic resonance imaging (MRI) findings, clinical signs at birth, surgical findings, management, and postoperative outcome.Ten neonates with prenatal intestinal volvulus were identified. Prenatal US scans or MRI demonstrated evidence of meconium peritonitis in one fetus and bowel dilatation in 2 others. The mean gestational age at birth was 36 weeks (range, 31-38 weeks) and the mean birth weight was 2811g (range, 2050-3700g). One premature neonate developed respiratory distress and required ventilatory support at birth. In 7 neonates, clinical examination showed distended abdomen and emesis, whereas plain abdominal radiographs showed intestinal obstruction. All neonates underwent surgery and all had normal intestinal rotation, except one with total intestinal volvulus secondary to malrotation. Other causes of volvulus were suspected in 4 neonates: mesenteric defect (n=1), intestinal atresia (n=2) and narrow mesentery (n=1). Detorsion of total volvulus, ileostomy, or intestinal resection with primary anastomosis was performed in 2, 5, and 3 neonates, respectively. One patient with total intestinal volvulus secondary to malrotation died, whereas all other neonates survived. In one patient, the postoperative course was complicated by intestinal dysmotility of the distal small bowel requiring a secondary jejunoileostomy. Stoma closure was subsequently performed at 1 year of age with good outcome. One patient developed angiocholitis treated successfully with antibiotics. Median time to initiate enteral feeds was 7 days (range, 4-16 days) and all patients were subsequently weaned from parenteral nutrition. Median duration of parenteral nutrition was 29 days (range, 6-667 days). None of the patients had cystic fibrosis. Unlike postnatal volvulus, most prenatal volvulus occurs without malrotation. Although prenatal volvulus is a life-threatening condition, our results suggest that good long-term outcome can be achieved in most cases.

We report a posterior urethral valves case diagnosed at 33 week's gestation on a fetus presenting with anamnios and urinary ascites. In this fetus, the serum beta2 microglobuline rate was high, suggesting a very poor renal prognosis. At 1-year-old, the creatinine rate is nearly normal. In case of urinary ascites, the serum beta2 microglobuline rate could be improved in relation with the transperitoneal reabsorption of this protein.

Palliative care in newborns may take place in the delivery room and then continued either in maternity wards or in the neonatal unit. For babies developing a chronic condition, going home may be advantageous. The population concerned includes babies born with a severe intractable congenital malformation and certain extremely preterm newborn babies at the limits of viability. Care procedures as well as withholding and withdrawing treatments are reviewed.

To describe the preliminary results of fetal cardiac scanning in the first trimester of pregnancy for fetuses at higher risk for congenital heart defect (CHD).Echocardiographic examination was performed at 12 to 14+6 in 67 patients at higher risk for fetal CHD. The indications for referral were: increased nuchal translucency more or equal to 99(e) centile (56 cases), risk of recurrence for CHD (eight cases), embryonic toxic exposure (eight cases), maternal disease (four cases).Complete examination of the fetal heart was possible in 54/55 cases. Fetal cardiac examination was normal in 58 cases (87 %). Six cases of severe CHD were diagnosed: hypoplastic left heart syndrome, pulmonary atresia with intact septum, complex univentricular CHD leading to termination of pregnancy, conotroncal Fallot like abnormality, and transposition of great arteries. Post-mortem examination was performed in three cases and confirmed the cardiac anomalies.Our preliminary results confirmed that fetal heart scanning is feasible at the end of the first trimester of pregnancy. Severe CHD are amenable to prenatal diagnosis in the first trimester in the population at higher risk for CHD.

We describe a case involving spontaneous retroperitoneal hematoma complicating a normal delivery in a context of a Disseminated Intravascular Coagulation (DIVC) at the end of the pregnancy. Given the defaced symptomatology, an abdomino-pelvic scanner and an examination with a general anaesthesia made it possible to diagnose and to monitor the hematoma in intensive care. The correction of the hemostasis troubles and of the anemia, without another invasive intervention, allowed a return to home at the eighth day. The pathophysiological mechanisms underlying development and practicable treatments of this post-partum hematoma are discussed.

To report the rules and the activity of the institutional review board of the French college of obstetricians and gynecologists (Comité d'éthique de la recherche en obstétrique et gynécologie [CEROG]) created in 2008. The submission requirements are also described.Retrospective study.The Ethical Review Committee [institutional review board of the French college of obstetricians and gynecologists (CNGOF)] CEROG have examined 65 project studies in 2008. The median number of submitted studies was 5.5 per month (IQR: 3.75-6.25). The origins of the submission were as follows: tertiary care university hospitals (n=63, 97 %), Inserm (n=1), INRA (n=1). Researches were found to be in conformity with the French laws and regulations, to conform to generally accepted scientific principles and medical research ethical standards in 44 cases (68 %). In 13 cases (20 %), the study has been forwarded to the Persons Protection Committee (PPC) since it concerned biomedical research or "usual care research" (soin courant). In six cases (9 %), the investigators have not responded to IRB suggestions. In two cases (3 %), the information form has been judged unsatisfactory.The CEROG is the first national IRB in obstetrics and gynecology. This new committee clarifies IRB submission procedure in France concerning non-interventional studies in the field of obstetrics and gynecology.

The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal corpus callosum agenesis (CCA) was made, given that beginning in 2003, the information provided to couples facing this problem related a good prognosis in nearly 80 % of cases of isolated CCA and a poor prognosis in 20 % of cases. We retrospectively analyzed all pregnancies with a fetal diagnosis of CCA between 2000 and 2006 (n=155) and compared two periods: the first group from 2000 to June 2003, the second from July 2003 to 2006. For each group, we analyzed the type of CCA during pregnancy - either isolated or associated - and the outcome of pregnancy. We compared the rate of pregnancy termination before and after 2003 and analyzed the accuracy of the prenatal CCA diagnosis. Of the 155 patients studied, 62 terminated the pregnancy. The overall rate of termination decreased from 31/70 to 31/85. When CCA was said to be isolated prenatally, the rate of pregnancy termination fell from 13/35 to 9/44 (-17 %) (p0.05). Nine diagnoses of CCA were corrected after birth or by postmortem examination. Improvement of prenatal diagnosis requires better quality of prenatal screening, with a more systematic study of dysmorphic features, a study of correlations between the type of CCA and the neurological prognosis, and more genetic studies.

The prenatal diagnosis of ambiguous genitalia requires a complete examination of the fetal anatomy to rule out any other congenital defects and the analysis of the fetal genotype. In addition any additional information on the anatomy of the internal genitalia, i.e. the presence or absence of fetal uterus, may be relevant to the prenatal evaluation of female pseudo-hermaphroditism. The recent development of 3D and 4D ultrasound technology may be relevant to a more clearly identification of the fetal uterus. Volume contrast imaging (VCI) provides high contrast images by the realization of thick slices of the region of interest (ROI) thereby providing a clearer picture of the fetal uterus. The multiplanar mode may also facilitate the differentiation of the fetal uterus from the other intra-pelvic organs by offering images in three perpendicular planes. Finally, the tomographic ultrasound imaging (TUI) mode offers the ability to display on a single panel numerous 2-dimensional sections, as obtained using computed tomography imaging.

The prenatal management of fetuses with intrauterine growth restriction (IUGR) has been a matter of perpetual evolving in obstetrics and has been the topic of numerous studies. The management of IUGR fetuses is currently available in tertiary centres using fetal heart monitoring, short term variability, or doppler investigation of the umbilical artery, ductus venosus and middle cerebral artery. The aim of the prenatal management is to detect anomalies that may predict severe fetal hypoxemia. On the other hand, any efforts should focus on the possibility to delay the time for delivery as gestational age at delivery together with birth weight appear to be essential parameters of the postnatal outcome.

The fetal circulation has been an exciting area of study for centuries. The principles which grew from the period of hypotheses have been demonstrated in several animal models. These experiments have shaped the major concept of fetal circulation. More recently, the improvement in ultrasound technology has allowed a non invasive study of the fetal circulation in humans. Although the general schema of the fetal circulation has been confirmed in humans, in some aspects some substantial differences have been demonstrated. They may not only reflect some inter-species differences, but also underscore the limitation of chronically instrumented animal studies.

We report a case of fetal immobility following antenatal corticosteroid therapy administered to women in thirty weeks at risk of preterm labor. The short-term side effect of corticosteroid, a decrease in fetal heart rate variation are well known. This case report presents the difficulty of therapy choice in front of fetal immobility and acute fetal distress. We chose a medical supervision. A review of the literature suggests other criteria, such as Doppler of umbilical artery, which could help therapeutical choice.

Brain imaging now provides exquisite images of the central nervous system (CNS) enabling identification of CNS malformations early during pregnancy. However, pathogenical evaluation, necessary for genetic counselling, requires a detailed neuropathological analysis. Brain imaging of a female fetus at 27 weeks gestation disclosed a paramedial cystic formation, considered to be a porencephalic lesion. Neuropathological correlation after pregnancy termination disclosed partial atresia of the third ventricle, responsible for lateral ventricle dilatation and corpus callosum lamination. Atresia of the third ventricle, that we suggest could be called "diencephalo-synapsis", is a rare CNS malformation due to an unknown cause. Further neuropathological studies and phenotype-genotype correlations are necessary for the delineation of the entity and the comprehension of its cause and pathogenesis.

A case of arteriovenous fistula of the liver diagnosed at 30 weeks of gestation is reported. The etiologies of an hypoechogenic structure in the fetal liver are discussed showing the contribution of pulsed wave Doppler and color Doppler to the diagnosis. The clinical evolution towards heart failure led us to examine the pathophysiology of such a lesion. The prenatal management of this arteriovenous malformation is exposed.