Impact of prenatal estimation of the risk of respiratory distress in neonates with congenital pulmonary malformations on the choice of delivery site.

BACKGROUND: The vast majority of prenatally diagnosed congenital pulmonary malformations (CPM) remain asymptomatic at birth. The maximal value of the CPM volume ratio (CVRmax) predicts the risk of neonatal respiratory distress (NRD), and should allow for better assessment of the level of expertise needed at the delivery site. AIM: This study evaluated the level of maternity units currently chosen for the delivery of CPMs, and determined the impact of the choice of delivery site based on the CVRmax, with a threshold of 0.4 cm2. METHODS: Data were extracted from the French prospective MALFPULM cohort, with inclusion between March 2015 and June 2018. RESULTS: The final study population consisted of 383 women. Deliveries in level 1 or 2 maternity units (n = 98, 25%) involved CPMs with lower CVRmax (p<0.001), causing fewer signs of prenatal compression (p = 0.025). Among the 62 children (16%) who presented with NRD, only seven (11%) were born in level 1 or 2 units (p = 0.0078). Choosing the maternity level according to the CVRmax would have increased the number of births in level 1 or 2 maternity hospitals by 70%. In these maternity units, the percentage of children with NRD would have increased from 8% in the actual distribution to 10% in the new strategy. CONCLUSION: Our results showed an overuse of level 3 maternity hospitals for the delivery of newborns with a prenatal diagnosis of CPM. The use of CVRmax should enable a reduction in the use of expertise centers without an adverse impact on newborns.

[Twin pregnancy with complete mole and coexisting fetus: Reach fetal viability is possible]. / Grossesse gémellaire avec môle complète et fœtus sain coexistant : atteindre la viabilité fœtale est possible.

Twin pregnancies combining complete hydatidiform mole and coexistent fetus are a rare situation (incidence in 1/20,000 in 1/100,000 pregnancies) and a challenge for diagnosis. Their complications can be important - bleeding, preeclampsia, miscarriage - and their management remains complex and controversial. In case of continuing the pregnancy, nearly 40% of women have lives babies. Three quarters of fetal loss occur before 24weeks gestation. We report here three new cases; only one of these cases had a favorable outcome.

[Hyperechogenic fetal bowel: Which fetal and neonatal outcome? A French study of 149 cases]. / Hyperéchogénicité intestinale fœtale : quel bilan proposer et quel pronostic ? À propos d'une série continue de 149 patientes.

OBJECTIVES: In case of hyperechogenic fetal bowel (HFB), invasive procedures such as amniocentesis are often proposed to detect an underlying cause. Our goal is to study etiologies and prognosis of HFB according to antenatal sonographic findings in order to evaluate the relevance of antenatal assessment. MATERIALS AND METHODS: It is a retrospective monocentric study lead from 2008 to 2012, including all patients with a suspicion of HFB on routine sonography. We analysed the antenatal and neonatal results, distinguishing four situations: isolated HFB, HFB+other digestive anomalies, HFB+vascular pathology, HFB+other associated anomalies. RESULTS: For 149 patients, HBF was confirmed. Sixty-nine were isolated HFB, 24 associated with other digestive anomalies, 16 with vascular pathology and 40 with other anomalies. Pregnancy outcomes were different with 92.8, 41.7, 0 and 45.0% of healthy newborns. In the case of isolated HBF, we noted 2.9% cystic fibrosis and 2.9% congenital infection. CONCLUSION: Isolated HBF seems to have a better prognosis than associated forms. However, prenatal investigations to eliminate cystic fibrosis or congenital infection should be offered and may be initially non-invasive, if a larger series confirmed the absence of dyschromosomy in this population.

[Esophageal atresia: prevalence, prenatal diagnosis and prognosis]. / Atrésie de l'œsophage : prévalence, diagnostic anténatal et pronostic.

Esophageal atresia (EA) is a rare congenital malformation (1 in 2,500 to 3,500 births). Prenatal diagnosis (PN) is particularly interesting allowing search for associated malformations related to worse prognosis forms (reference ultrasound, MRI and amniocentesis) and planning the birth in an adapted medico-surgical center. Diagnosis of EA is usually suspected because of indirect and non-specific signs: association of polyhydramnios and absent or small stomach bubble. The visualization in ultrasound or MRI of cervical or thoracic fluid image corresponding to the expansion of the bottom of upper esophageal ("pouch sign") increases the specificity of diagnosis. However, prenatal diagnosis remains difficult and less than 50 % of EA are diagnosed prenatally. Biochemical analysis could improve these results. If EA is confirmed at birth, surgical management consists in a primary end-to-end anastomosis in first days of life, or in two-steps surgery if the defect is too large. Although current prognosis of EA is good, frequency of surgical complications and esophageal lesions secondary to gastroesophageal reflux justify a systematic and multidisciplinary extended follow-up.

[Interpretation of atypical values of maternal serum markers]. / Interprétation des valeurs atypiques des marqueurs sériques.

OBJECTIVES: Prenatal screening was set up to identify patients at high-risk of chromosome 21 trisomy based on maternal serum markers measurement. However, the risk of trisomy 21 should not be the only result considered by obstetricians. In fact, abnormal marker values can be associated with other fetal diseases and used to improve maternal and fetal follow-up. Our objective was therefore to study other predictive values of maternal serum markers. MEANS AND METHODS: A search through publications was conducted using the PubMed® or Cochrane® databases. RESULT: In case of high PAPP-A there is no link with any complications. Second trimester high hCG or first trimester low hCG are associated with an increased vascular risk. High α-fetoprotein level is a marker of neural tube defects or abdominal wall defect. Persistence of high α-fetoprotein with normal echography can suggest other rare fetal diseases. Low maternal serum markers suggests 18 trisomy. Oestriol reflects the fetal hypothalamo-hypophyseal axis and can be used as a diagnosis tool. CONCLUSION: Serum markers could be interesting tools for the identification of high-risk pregnancy and the prevention of neonatal complications. They also appear as a potential help to diagnose certain congenital malformations.

[Pregnancy and essential thrombocytemia]. / Thrombocytémie essentielle et grossesse.

OBJECTIVE: To evaluate the management and outcome of pregnancy in women with essential thrombocytemia. PATIENTS AND METHODS: We conducted a retrospective study including all the pregnant women with essential thrombocytemia followed between January 2000 and January 2008 in a University Hospital (hôpital Jeanne-de-Flandre, Lille, France). We report our experience of 18 pregnancies in 13 women. The management and the complications of these pregnancies were reported. RESULTS: All the patients were treated with low dose aspirin during the pregnancy. We observed one intrauterine death, one premature delivery at 29 weeks of gestation and six maternal haemorrhages at delivery (33%). DISCUSSION AND CONCLUSION: It is essential to treat these patients with low dose aspirin as soon as the pregnancy begins. Aspirin will be continued in postpartum with anticoagulant treatment. This management appears to improve the obstetric outcome and decrease the thrombotic complications usually described. A national register seems to be necessary to evaluate the complications occurring during pregnancy and the optimum follow-up.

[Assessment of anxiety, pain and its management in prenatal diagnosis procedures]. / Évaluation de l'anxiété, de la douleur, et de leur prise en charge dans les gestes de diagnostic anténatal.

UNLABELLED: Invasive prenatal diagnosis procedures are numerous and more or less painful and stressful. The purpose of this study was to investigate maternal perception of both anxiety and pain before and after amniocentesis (AC) or transabdominal chorionic villus sampling (CVS), to determine factors associated with pain and anxiety, and to evaluate the pain support. This is a prospective study evaluating the professional practices at CHRU of Lille between March and May 2009 with 132 AC and 22 CVS by aspiration. An original questionnaire has been elaborated in three parts: the first one fulfilled by patients before the procedure, the second one, after the procedure, and the last one by the medical team. Statistical comparisons have used the Chi(2) test, the Fisher exact test, the Student's t test and the U test of Mann Whitney. RESULTS: The anxiety level is high but does not differ between the two groups AC and CVS. CVS are more painful than AC (EVA 5.77 versus 3.07, P<0.0001). No predisposing factor for anxiety has been found. On the other side, procedures are more painful when they are long lasting, considered difficult by the medical team, when needles used are large, the number of needle insertions increases, puncture is performed along a side of the uterus, patients are anxious, and then procedure indication is an hygroma. Patients are satisfied in 98.7% of cases of the support of the medical team. Few drug treatments was prescribed (only 4.5%), however, patients are generally applicant. CONCLUSION: An analgesic, anxiolytic, or a relaxation technique can be proposed to anxious and applicant patients undergoing CVS. Technical conditions of the procedure are more difficult to improve, however, we should use if possible thinner needles, and avoid, wherever technically possible, the punctures on the lateral side of the uterus. Finally, further studies seem necessary for the evaluation of a treatment protocol.

[Maternal and foetal anaesthesia for ex utero intrapartum treatment (EXIT) procedure]. / Anesthésie maternofoetale pour "ex utero intrapartum" traitement (EXIT) procédure: à propos de deux cas.

The ex utero intrapartum treatment (EXIT) procedure is a surgical procedure maintaining utero-placental circulation during caesarean section. Anaesthetic implications are described: foetal transplacental anaesthesia to avoid first breathing and to permit surgical procedure on obstructed foetal airway, deep maternal haemodynamically stable anaesthesia to relax uterine smooth muscle during a long caesarean procedure but avoiding post-partum haemorrhage. Volatile anaesthesia with sevoflurane seems to be adequate for these aims. Two cases are described.

[Fetal thoracic MR imaging]. / IRM thoracique foetale.

Ultrasonography is the method of choice for prenatal malformation screening, but it does not always provide sufficient informations to allow a correct diagnosis or an adequate abnormality evaluation. Fetal MRImaging (MRI) indications are increasing in order to complete sonographic findings. It has been initially used for evaluation of cerebral abnormalities, but it is more and more applied to other fetal areas. An adequate analysis of fetal chest and abdomen can be obtained with fast T2 and T1 weighted sequences. This allows an easy diagnosis of congenital diaphragmatic hernia and an evaluation of the consequences on pulmonary growth. Other pulmonary malformations can be also easily identified (cystic adenoid malformation, sequestration, bronchogenic cyst, tracheal or bronchial atresia). Therefore, fetal thoracic MRI contributes to a better understanding and evaluation of fetal thoracic malformations, which is particularly useful for their postnatal management.

[Cerebral fetal MRI and ventriculomegaly]. / IRM cérébrale foetale et ventriculomégalie.

OBJECTIVE: To evaluate MRI usefulness in diagnosis and management of fetuses with cerebral ventriculomegaly at US. PATIENTS AND METHODS: Sonography depicted cerebral ventriculomegaly in 61 fetuses. Management included MRI in all cases and infectious screening, and karyotype in 51 cases. Final diagnosis was supported by fetal autopsy (n=24), postnatal follow-up>6 months (n=19), infectious screening or karyotype (n=8), and MR imaging when diagnosis was obvious (n=16). RESULTS: MRI was more informative than ultrasonography in 32.8% of cases with identification of the etiology in 21.3% of cases. In 45% MRI and sonography were considered to be normal. In the remaining cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. Ultrasonography never depicted more anomalies than MR imaging. The 2 false negatives were gyration disorders but MR imaging was performed too early. CONCLUSION: US is the imaging modality of choice in the evaluation of fetal anomalies but MRI has to be systematically performed in case of cerebral ventriculomegaly because MRI demonstrates its usefulness in patient counseling, even if there are a few false negative results.

[An ischemic pulmonary malformation of the surviving fetus occurring after selective embryo reduction in bichorionic pregnancy. Report of one case and literature review]. / Une anomalie pulmonaire ischémique inhabituelle du foetus survivant après interruption sélective sur grossesse bichoriale. A propos d'un cas et revue de la littérature.

We describe, to our knowledge, the first case of a pulmonary malformation called acinar dysplasia occurring at a surviving fetus after selective embryo reduction in a bichorionic pregnancy. The chronological and histological observations suggest that this anomaly may be linked with a feticide achieved at 13 week's gestation. Literature review concerning selective embryo reduction shows rare cases of vascular connections in bichorionic pregnancies especially during the first half of gestation, that can explain in part the apparition of survivor's anomalies.

[Trisomy 18: ultrasound aspects. Report of 40 cases]. / Trisomie 18: aspects échographiques. A propos de 40 observations.

OBJECTIVE: We describe the different ultrasound findings suggestive of trisomy 18. PATIENTS AND METHODS: We conducted a retrospective study in 40 cases of trisomy 18 diagnosed in the department of obstetrics at the Lille University Hospital between 1988 and 1998. RESULTS: Eighty percent of the women in this series were multiparous. Mean maternal age at discovery of the trisomy as 33.2 years and the mean gestational age was 20.4 weeks. Fifty-five percent of the cases were discovered during the second trimester of pregnancy, 22.5% during the third trimester and 22.5% during the first trimester. One ultrasound abnormality, at least, was detected in 36/40 cases (90%) a percentage that reached 96.8% taking into consideration the ultrasound examinations performed during the second and third trimesters (30/31 cases). The most frequently detected ultrasound abnormalities were: intra uterine growth retardation (IUGR: 50%), poly-hydramnios (42.5%), limb abnormalities (42.5%), cardiac defects (30%), facial abnormalities (37.5%), meningomyelocele (32.5%), digestive abnormalities (32.5%), urinary tract abnormalities (27.5%), lymphangiectasia and cystic hygroma (15%), and single umbilical artery (12.5%). Medical termination of pregnancy (TOP) was performed in 28 cases. There was one spontaneous miscarriage at 8 weeks and one in utero death (IUD) at 39 weeks in a patient who desired to continue her pregnancy. In 6 cases, the issue of the pregnancy was unknown because the patients were lost to follow-up. In 4 cases (10%), pregnancy was continued to delivery of live babies that only survived a few minutes to 7 days. CONCLUSION: The ultrasound signs suggestive of trisomy 18 change according to the term of pregnancy. At the first trimester, most of the signs are nonspecific, such as cystic hydroma or lymphangiectasia, and do not suggest the need for a karyotype. At the end of the second trimester, an association of various signs that alone would not be highly suspect suggest the need for further exploration in search of other signs: early IUGR, associated or not with poly-hydramnios, limb abnormalities, cardiac defects, omphalocele, diaphragmatic hernia, meningomyelocele, enlarged cisterna magna, choroid plexus cysts, single umbilical artery, facial dysmorphism, facial cleft, hydronephrosis.

[Ultrasonographic signs of chromosome aberrations]. / Signes d'appels échographiques des aberrations chromosomiques.

We reviewed the literature on ultrasonographic criteria allowing prenatal diagnosis of chromosome aberrations, especially the most frequent: trisomy. Signs vary depending on the term of the ultrasound examination (first trimester ultrasound is often performed to early and several signs are observed in the second trimester). During the first trimester, the main criteria is the diagnosis of nuchal clearness 3 mm. The distance can only be measured with an appropriate sagittal CRL section by an experienced operator. The ideal term of this morphology ultrasound is 10 weeks gestation. During the second trimester, there are many suggestive criteria including non-specific signs: anomalous quantity of amniotic fluid, short femur, nuchal thickness 6 mm, isolated anomaly of the umbilical velocimetry, pyelectasy and fetal malformations (mainly cerebral or abdominal, including ophalocele and diaphragmatic hernia, anomalies, abnormal heart anatomy, cystic hygroma, facial anomalies and malformations of the members, often abnormal flexion of the hands).

[Choroid plexus cysts and risks of chromosome anomalies. Review of the literature and proposed management]. / Kyste du plexus choroïde et risque d'anomalie chromosomique. Revue de la littérature et proposition de conduite à tenir.

OBJECTIVE: We propose to specify the different criteria of estimation and management in presence of a ultrasound discovery of a choroid plexus cyst. METHOD: A detailed review of the literature about this subject allowed to better apprehend the different attitudes taken up by the authors. RESULTS: Fetal choroid plexus cysts (CPC) are potentially useful markers for trisomy 18 in as much as they are present in about 50% of affected fetuses and they are easily seen in the standard biparietal diameter view which is obtained for all routine ultrasound scans. However, advice is contradictory as to whether karyotyping should be proposed for all fetuses (1-2% of the population) where fetal CPC are diagnosed. CONCLUSION: The review of the literature show that the majority of the authors advocate amniocentesis when the CPC is associated with another ultrasound abnormality. Isolated, it imposes regular and meticulous morphologic ultrasound supervision to search for another possible associated ultrasound abnormality, if necessary, in a prenatal diagnosis center.

Fryns syndrome and erupted teeth in a 24-weeks-old fetus.

We describe a 24-weeks-old fetus with Fryns' syndrome (FS) and two erupted incisors. The present observations is another example of prenatal diagnosis of FS, based on ultrasonographically detected hernia diaphragmatica and cystic hygroma. It also adds an hitherto non described finding in FS. The presence of prenatally erupted teeth without any similar family history is discussed.

[Gamstorp's disease and pregnancy. A case report]. / Maladie de Gamstorp et grossesse. A propos d'un cas.

Gamstorp's disease or hyperkaliemic periodic paralysis is a rare pathology leading to spells of generalized hypotonia due to hyperkaliema. It is hard to say how far pregnancy affects the course of the disease and what is the impact of the disease on pregnancy. We report a case of Gamstorp's disease during pregnancy and we insist on the fact that because it can be crippling during its acute phases, close surveillance is needed during pregnancy. Screening for malignant hyperthermia should be carried out. During labour, kaliemia level should be monitored repeatedly and the expulsion phase kept as short as possible if necessary by forceps delivery.

[Evaluation and surveillance of blood pressure during pregnancy]. / Evaluation et surveillance de la pression artérielle au cours de la grossesse.

Despite a large body of literature or hypertension in pregnancy, there still is no recognized prognosis factor for this frequent and severe disease. Management still relies on clinical features (occasional blood pressure measurements, weight curve) and appropriate tests including fetal and maternal echodoppler, urinary uric acid, 24 h proteinuria and fetal heart rate monitoring. Recent developments including self measurement and ambulatory monitoring of blood pressure have helped improve follow-up and therapeutic management in high risk pregnancies. By repeating the measurements, these techniques require more intensive medical follow-up and an adapted therapy near the term of pregnancy. They do not however provide a means of predicting outcome or recurrence of preeclampsia. These techniques have effectively been shown to reduce the number and duration of hospitalizations.

[Precocious pseudo-puberty in granulosa cell tumor in children less than 1 year old. 2 cases]. / Pseudo-puberté précoce par tumeur de la granulosa chez des enfants de moins de 1 an. 2 cas.

Two cases of isosexual precocity in relation to granulosa cell tumor in 2 girls aged 6 and 9 months respectively are described. In the two cases clinical and biological signs of hyperoestrogenemia were found but in one, acute signs of tumoral rupture were the first symptom. Histologically, the two classical subtypes were found: macrofollicular ("adult" type) and "juvenile". These two children are alive without any sign of recurrence with a follow up of 12 and 18 months. The occurrence of granulosa cell tumors in such young girls seems extremely rare.