[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).

Prenatal diagnosis of mosaicism for 11q terminal deletion.

The phenotype of 11q terminal deletion also known as Jacobsen syndrome is a clinically well known entity whose diagnosis in infancy and childhood is based on clinical examination, hematological and cytogenetic findings. Hematological features in Jacobsen syndrome are very similar to those reported in Paris-Trousseau syndrome (PTS) which is also associated with11q terminal deletion. Karyotype analysis shows a variable terminal deletion from 11q23 sub-band extending to the telomere. Most often in patients with Jacobsen syndrome, this chromosomal deletion is present in all metaphases. We report on the identification of a distal 11q deletion in mosaic (20% of deleted cells) in a fetus ascertained after amniocentesis for maternal serum screening test indicative for Down syndrome. The present case is the third prenatal diagnosis of a mosaic for a distal 11q deletion with the lowest mosaicism rate. The 2D-ultrasound examination and cord blood hematological studies were useful to estimate the prognosis at term, considering the contribution of the mosaicism rate to the phenotypic variability in Jacobsen syndrome. The identification of mosaicism for distal 11q deletion is a very rare event in prenatal diagnosis. This case illustrates the complexity in genetic counselling for prenatally ascertained partial monosomy 11qter in mosaic.

Inhaled nitric oxide improves oxygenation in very premature infants with low pulmonary blood flow.

AIM: Inhaled nitric oxide (iNO) is used to reduce right-to-left extrapulmonary shunting by decreasing pulmonary vascular resistance in term or near-term infants. The objectives of this study were to determine, first, the pulmonary blood flow status of very preterm infants with hypoxaemic respiratory failure, then the response of oxygenation to iNO therapy according to pulmonary blood flow (PBF) and, finally, to verify the lack of adverse side effects of iNO on the ductus arteriosus. METHODS: Infants below 32 wk gestational age (GA) with hypoxic respiratory failure and aAO2 < 0.22 were randomized as the control or iNO group. PBF was evaluated by pulsed Doppler measurement of mean pulmonary blood flow velocity (MPBFV) in the left pulmonary artery. Low PBF (LPBF) was defined as MPBFV < 0.2 m/s. RESULTS: Seventy infants of 23 to 31 wk GA with hypoxic respiratory failure were randomized either to receive or not to receive 5 ppm iNO in addition to optimal care. Twenty-eight infants were diagnosed with LPBF (11/35 in iNO vs 17/35 in the control groups). Thirty minutes after receiving iNO the number of LPBF infants dropped to 8/35. In the iNO group, aAO2 increased significantly from 0.14 +/- 0.05 to 0.24 +/- 0.08 after iNO, but only in the LPBF infants (mean +/- SD; p = 0.027). CONCLUSION: In infants below 32 wk GA with hypoxic respiratory failure, Doppler echocardiographic assessment of LPBF seems to be able to determine which patients are likely to benefit from iNO therapy on systemic oxygenation.

[Twin-twin transfusion syndrome: report of two cases with hemodynamic complications]. / Syndrome transfuseur-transfusé: complications hémodynamiques à propos de deux observations.

CASE REPORTS: We report two cases of cardiac dysfunction in twin-twin transfusion syndrome (TTTS) evaluated with serial echocardiography. Two cases of TTTS were referred at 27 and 26 weeks. At delivery at 31 weeks, the first recipient twin had evidence of severe cardiac dysfunction with decreased ventricular function and transient systemic hypertension. There was polycythaemia. Favorable outcome was observed after treatment with arterial vasodilating (nicardipine) and inotropic agents (dobutamine, enoximone), and reduction of haematocrit. At 28 weeks the other recipient twin had cardiac dilatation with hypokinetic myocardium. These alterations were cured by dobutamine. CONCLUSION: These cases show that even severe cardiac dysfunction may be reversed after birth unlike in utero natural evolution.

[Prenatal detection and management of congenital heart disease]. / Détection et prise en charge prénatales d'une cardiopathie.

Antenatal diagnosis of congenital heart diseases rests on a two steps procedure. 1) A first intended fetal echocardiography which takes place during the two first trimesters of gestation, either early oriented by the familial or maternal history or the finding of fetal developmental abnormalities (intra uterine growth retardation, defects), or systematically performed as part of the fetal echography of the second trimester. 2) A second echocardiography which is part of a specialized cardiologic evaluation; its aims are to define the cardiac phenotype, to specify the hemodynamic tolerance of the heart defect, to orientate the genetic diagnosis, and finally to evaluate the cardiac prognosis.

Antenatal diagnosis of Multicystic Renal Dysplasia.

Multicystic Renal Dysplasia (MRD) was discovered during antenatal ultrasound examination in 138 fetuses between 1980 and 1995. Associated malformations were present in 66 % (42 % urological) and 22 % of the fetuses did not survive the pregnancy or the peri-natal period.Anatomical analysis showed a wider variety of MRD than in classical descriptions. Obstruction of the urinary tract was almost invariable. Like the hypothesis published by Beck in 1971, our view is that, with a very early obstruction of the urinary tract (during the first trimester), there is a dysplastic evolution of renal tissue, while later in pregnancy the same obstruction can induce a hydronephrosis with corticomedullary dysplasia.We advise complete neonatal urological investigation, and surgical removal of multicystic kidneys, to avoid multiple and inadequate evaluations of those children with a single functioning renal unit.

Anatomical and sonographical studies on the development of fecal continence and sphincter development in human fetuses.

The aim of this study was to specify the sonographic, anatomical and morphological aspects of the fetal anal sphincter and to compare them with pathological and physiological findings. The sphincter was examined by serial sectioning and staining of embryo and fetal tissue and by real-time ultrasound. Its function was analysed using amniotic fluid digestive enzyme assays in cases of anorectal atresia and cystic fibrosis. Morphological findings indicate that the functional components of the anal sphincter do not differentiate before 30 weeks and therefore do not account for the observed anal continence at 22 weeks. Ultrasound measurements of the sphincter indicate three developmental phases: 1) slow growth from 14 to 19 weeks; 2) rapid growth from 19 to 30 weeks; 3) subsequently, no further increase, but contractions indicative of peristaltism. Amniotic fluid digestive enzyme assays indicate that anal sphincter maturation begins with perforation of the anal membrane at 12 weeks. Comparison of pathological cases (anorectal atresia and cystic fibrosis) suggests two possible explanations of fetal anal obstruction: increasing viscosity of digestive secretion or the presence of the three anal sphincter muscles, even if still immature. Our results clarify the evacuation and retention of meconium during fetal life and the role of the terminal part of the digestive tract, notably the anal sphincter. Prenatal diagnosis of anorectal atresia is therefore possible before 20 weeks of gestation by measurement of amniotic fluid digestive enzymes and ultrasonography, thus enabling better neonatal management.

Diagnosis of small-for-gestational-age fetuses between 24 and 32 weeks, based on standard sonographic measurements.

OBJECTIVE: To create and validate a formula using sonographic biometry measurements for the optimal diagnosis of small-for-gestational-age (SGA) fetuses between 24 and 32 weeks of gestation. METHODS: A logistic model using gestational age, femur diaphysis length, abdominal and head circumferences to diagnose SGA was set up in a first group of 64 fetuses born between 24 and 32 weeks (group I). A Receiver Operating Characteristic (ROC) curve was drawn. Our model was compared with standard single ultrasound measurements or combined into an estimated fetal weight (EFW) formula. An external validation was carried out on a second group of 183 fetuses (group II) from another maternity unit (ROC curve and comparisons). RESULTS: The area under the ROC curve was 0.91 in group I and 0.93 in group II. Using a 0.5 cut off point for our model yielded a sensitivity of 76% and specificity of 91% for group I. This model is more specific than most other measurement methods with a similar sensitivity. Using the same cut off point (0.5) in Group II, our model was more specific (98%) but less sensitive (66%) when compared with single ultrasound measurements and EFW formulae. By varying the cut off point, we were able to demonstrate that, for a similar sensitivity, our model had a higher specificity than single ultrasound measurements and had similar specificity to EFW formulae. CONCLUSION: The logistic model we set up was able to calculate an SGA risk score between 24 and 32 weeks of gestation in a population at high risk for elective delivery. The cut off point with a view to diagnosis can vary and makes it possible to give greater importance to the sensitivity or specificity depending on the clinical context.

A longitudinal study of fetal growth variability.

The aim of this study was to assess the variability in individual fetal growth rhythms in comparison to averaged standard curves obtained from cross-sectional data. Biparietal diameter (BDP), abdominal transverse diameter (ATD) and femur length (FL) were measured by ultrasonography in 24 normal subjects, and the variance in growth rates determined for four time intervals: 12-26, 26-34, 34-37 and 37-39 weeks gestation. BPD, ATD and FL growths were always linear until 26 weeks with low variances in growth rates. Growth rates decreased thereafter whereas related variances increased significantly with a great diversity in individual growth trajectories. This study questions the relevance of mathematically smoothed curves which lead to an erroneous impression of growth trajectory uniformity when ultrasonography does not seem to be able to predict accurately newborn biometrical characteristics by the end of gestation.

[Prenatal diagnosis of a pancreatic cyst due to Ivemark II syndrome]. / Diagnostic anténatal de kyste pancréatique révélateur d'un syndrome d'Ivemark II.

We present a case of pancreatic cyst associated with other malformations which was diagnosed at antenatal ultrasound. Renal, hepatic, and pancreatic dysplasia as described by Ivemark in 1959 was confirmed by the pathology examination. This uncommon and lethal syndrome demonstrates autosomic recessive transmission. Ultrasound evidence of renal, hepatic and pancreatic dysplasia, associated with femoral abnormalities is suggestive of Meckel's syndrome. Other differential diagnoses are more easily distinguished (chondrodysplasia, chromosomal or metabolic abnormalities).

Mortality after an antenatal diagnosis of foetal uropathy.

A longitudinal study identified 987 foetal uropathies over a 13-year period. There were 147 deaths. Forty infants died as a result of a lethal uropathy in the presence of associated congenital anomalies. Sixty-six infants with an isolated uropathy died. There were 4 cot deaths, 2 obstetric related deaths, and 34 deaths caused by associated congenital anomalies. There was 1 termination of pregnancy following a false-positive diagnosis of uropathy. Of the 147 deaths, 34 occurred postnatally, 20 within 24 hours. Twenty-nine infants were spontaneously aborted. There were 78 terminations of pregnancy, 43% occurring after 24 weeks of gestation. There was complete concordance in antenatal and postnatal diagnoses in 113 (77%) cases and incomplete concordance in 19 (13%) cases. There were 14 false-negative diagnoses (9.5%). The relative frequency of different lethal congenital uropathies is detailed. Accurate in utero diagnosis of foetal uropathy and hence prediction of outcome is possible. The relatively late gestational age at time of diagnosis remains a constraint when fatal malformations would otherwise prompt termination of pregnancy.

The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.

UNLABELLED: The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities. CONCLUSION: Renal agenesis and imperforate anus may occur in the Antley-Bixler syndrome.

Growth velocity of the biparietal diameter, abdominal transverse diameter and femur length in the fetal period.

In this study, fetal growth rates of the biparietal diameter (BPD), abdominal transverse diameter (ATD) and femur length were established from 4333 ultrasound examinations. The age of the fetuses ranged from 7 to 40 gestational weeks. The growth rates were computed by periods of 3 weeks, and the velocity curves were plotted with their 95% confidence interval. Results displayed multiphasic patterns of growth velocity for these variables, with a common peak of velocity at about 16 weeks. Between 16 and 28 weeks, growth velocity of femur length decreased, while the ATD and the BPD grew at the same constant rate. From 28 to 37 weeks, only the ATD maintained a high rate of growth. After 37 weeks, all growth rates decreased abruptly. In all cases, no sex differences in growth velocity were found.

[Dilatation of the cerebral ventricles diagnosed in utero. 85 case reports]. / Dilatation des ventricules cérébraux découverte in utero. A propos de 85 observations.

This study concerns a retrospective analysis of 85 case histories of pre-natal dilatations of the ventricles considered by a multi-disciplinary group whose aim it was to try and identify the most favourable features for prognosis that could be found in the whole of this pathological condition. The prognosis for ventricular dilatations found in utero is very poor. Only 36 of the 85 children were born alive. 16 of those died before they were two months old and of the survivors only 4 children developed normally. The least unfavourable elements that were found seem to be solitary areas of dilatation or the association of the dilatation with agenesis of the corpus callosum, late diagnosis, slow evolution and a ventricular-hemisphere ratio no more than 50% of the normal value. Early diagnosis should improve the methods of treating these patients. In order to achieve this, an ultrasound of the skull should be carried out in the fourth month and in the 26th week of pregnancy. Precise diagnosis must be made. A attempt should be made to work out the aetiology as completely as possible as well as to watch carefully how the condition is evolving. When death has occurred, the assessment should be compared with the autopsy results. Finally, the knowledge about the outcome of all these children should make it possible to criticize the decisions that have been taken for management.

Unusual encephaloclastic lesions with paraventricular calcification in congenital rubella.

We report an unusual case of congenital rubella. The infant was suffering from a serious encephalopathy, and both prenatal echography and neonatal CT scan showed passive ventriculomegaly with a calcified periventricular border. Usually, such lesions are strongly suggestive of cytomegalovirus (CMV) infection and have never previously been reported in congenital rubella. Classic cerebral lesions in rubella are related to a prominent obstructive vasculopathy. Conversely, encephaloclastic lesions in CMV infection are likely related to a necrosis of brain parenchyma following upon an initial ventriculitis, and perhaps also to a disturbance of neuronal proliferation. Recently, Carey described a neonate with proven congenital rubella and cranial ultrasound findings typical of ventriculitis. However, in spite of the close similarity between our patient's lesions and the typical CMV lesions, we think it's impossible to assert similar pathogenic mechanisms. Actually, it's quite conceivable that only a severe or extensive vasculopathy can lead to brain atrophy with periventricular calcification in congenital rubella.