Prenatal neurosurgical counseling for conditions affecting the fetal nervous system.

OBJECTIVE: The aim of this study was to share a single center's experience of prenatal neurosurgical counseling and explore pregnant women's experiences with counseling. MATERIAL AND METHODS: This retrospective study analyzed data for 81 women who received prenatal counseling in a single institution (same senior pediatric neurosurgeon) over a 6-year period. Additionally, a retrospective questionnaire study was conducted with 33 women who chose to continue their pregnancy, to assess the strengths and weaknesses of counseling and analyze the reasons for their decision. RESULTS: Spinal dysraphism was the most frequent condition leading to prenatal counseling, followed by conditions affecting the cerebrospinal fluid. 57.6% of the women did not follow the French national recommendations on folic acid supplementation in the periconceptional period, and 38.3% underwent termination of pregnancy (TOP). One-third of the 33 women who answered our questionnaire changed their mind about TOP after counseling, and 50% reported that the information provided influenced their decision. CONCLUSION: Prenatal neurosurgical counseling is nowadays an important part of a pediatric neurosurgeon's practice. It provides specific information to the woman to decide whether to continue the pregnancy. Urological concerns are frequent among the malformations encountered. Hence, we conclude that these women should be offered the possibility of seeing a urologist. Areas for improvement include greater awareness regarding folic acid supplementation and improved psychological care. The advantage for a woman of consulting a neurosurgeon consists in receiving information that is as accurate as possible about the level of disability of the future child and about surgery and follow-up.

[Prenatal diagnosis of neural tube defects: Correlation between prenatal and postnatal data]. / Diagnostic prénatal des dysraphismes spinaux : corrélation des données anténatales et postnatales.

OBJECTIVES: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. MATERIALS AND METHODS: A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity. All patients who benefited a prenatal diagnosis of NTD for their foetus, and for whom postnatal data were available were included. Prenatal and postnatal data, especially type of dysraphism, levels of defect and extent, and associated anomalies were compared. RESULTS: Sixty spinal dysraphisms were diagnosed antenataly. Concerning the type of dysraphism, ultrasound diagnosis was well correlated with postnatal findings (ρ=0.7048). Prenatal level and extent were correlated with postnatal data (respectively ρ=0.539 and ρ=0.562). Vertebral upper level defined by ultrasound agreed with postnatal constatations in 80.8% of cases within one vertebra, and in 84.6% of cases within two vertebras. Concerning indirect signs of spina bifida, prenatal data agreed with postnatal ones for most of them, especially for Arnold Chiari II malformation. CONCLUSION: There is a high correlation between prenatal and postnatal data. Prenatal ultrasound seems to be efficient for description of neural tube defects and to identify foetuses for which the benefit of in utero surgery exists.

[Diagnostic imaging evaluation of neonatal vomiting]. / Démarche diagnostique devant des vomissements du nouveau-né et du nourrisson.

Vomiting during the neonatal period is frequent. The purpose is to detect neonates and infants with digestive pathology requiring urgent management such as duodenal atresia, small bowel volvulus, acute intussusception, and hypertrophic pyloris stenosis. All of these conditions may be diagnosed by ultrasound which should be performed when clinically suspected.

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

OBJECTIVE: To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA). METHODS: We used oligonucleotide arrays to perform comparative genomic hybridization after termination of pregnancy in 50 polymalformated fetuses with a normal karyotype. These fetuses presented with at least three significant malformations (42 cases) or a severe brain anomaly (eight cases). RESULTS: We identified a deleterious copy number variation (CNV) in five fetuses (10%). De novo genomic imbalances identified in this study consisted of a 6qter deletion in a fetus with brain and renal malformations, a mosaicism for a 8p tetrasomy in a fetus with agenesis of corpus callosum, growth retardation, mild facial dysmorphic features, and vertebral anomalies, a 17p13.3 deletion in a fetus with a complex brain malformation, and a partial 11p trisomy in a fetus with severe growth retardation and oligoamnios. In one case, we identified a partial 17q trisomy resulting from malsegregation of a cryptic-balanced translocation. CONCLUSIONS: This study shows that array comparative genomic hybridization (aCGH) is particularly effective for identifying the molecular basis of the disease phenotype in fetuses with multiple anomalies. Our study should help to define clinical relevant regions that would need to be included in targeted arrays designed for prenatal testing.

[Lung signal on fetal MRI: normal values and usefulness for congenital diaphragmatic hernia]. / Signal pulmonaire foetal en IRM: valeurs normales et application à la hernie diaphragmatique congénitale.

PURPOSE: To demonstrate the feasibility of lung signal measurements on fetal MRI, present normal signal intensity curves, and assess its value to predict pulmonary hypoplasia. PATIENTS AND METHODS: Prospective multicentric study of 115 fetuses without lung disease and 33 fetuses with left diaphragmatic hernia and high risk of pulmonary hypoplasia. Signal measurements were obtained of the lungs, liver and psoas from fast heavily T2W sequences (HASTE, 2 measurements and 2 orthogonal planes for each organ, oval-shaped ROI of 1 cm2 for lungs and liver, and 0.5 cm2 for the psoas). RESULTS: No direct linear relationship existed between lung signal intensity and gestational age. A direct linear relationship existed between liver signal and gestational age, and between psoas signal and gestational age. An exponential relationship existed for the ratios left lung/liver, right lung/liver, left lung/psoas and right lung/psoas. The inter-observer agreement was excellent, ranging between 0.888 and 0.926. Significant differences were observed between normal fetuses and fetuses with diaphragmatic hernia for the right lung/liver and left lung/psoas ratios. CONCLUSION: Normal fetal lung signal intensity curves can be obtained. Lungs at risk of hypoplasia presented significant alterations of signal ratios. The prognostic value of such results requires additional postnatal clinical follow-up.

[Fetal digestive tract imaging]. / Imagerie du tube digestif foetal.

The exploration of the fetal digestive tract is not systematized and the ends (thoracic oesophagus and anorectal area) are often excluded from the examination excluded from screening. Only the foetal digestive pathology of liquid expression (digestive obstruction, digestive duplication) is easily detected. The most frequent digestive pathologies (oesophagus atresia, anorectal malformation) are still very often a neonatal discovery. With echography or MRI, the antenatal analysis of the digestive tract is optimized by the acquisition of coronal (thoracic oesophagus, small intestine, and colon) and sagittal median cuts (rectal reference mark, sacral concavity). The interpretation of the echosignal of the contents of the digestive tract (liquid or meconial) takes into account the transition periods responsible for the physiological modifications in charge of the modification of images (24-26 WA and 29-30 WA).