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Fetal thyroid is essential for normal fetus development. Echography of fetuses from mothers with Graves' disease is extremely specific for detecting an intrauterine thyroid dysfunction. We report the first correlation of two cases between color Doppler and histologic study of fetal thyroid goiters., (Copyright 2010 S. Karger AG, Basel.)

A case of Aicardi-Goutières syndrome is described in a family with index cases. The diagnosis was made prenatally based on high fetal blood concentration of interferon alpha. The biological measurement could be of interest for further diagnosis of other cases., ((c) 2006 S. Karger AG, Basel)

Objective: To assess the frequency of certain etiologies in fetal echogenic bowel and the related pregnancy outcome., Study Design: A retrospective study including 215 cases. Ultrasound findings included bowel abnormality, malformations, growth retardation and Doppler abnormalities. Amniocentesis was performed in 196 cases to screen for abnormalities in karyotype, cystic fibrosis gene and infection. The color of amniotic fluid and a history of first-trimester bleeding were also noted. Outcome according to different etiologies was reported., Results: 112 cases (57%) had a known etiology, which included chromosomal abnormality (7%), infection (4%), cystic fibrosis (1.5%), bowel abnormality (3%), bleeding or stained amniotic fluid (11%), Doppler abnormality (14%), malformation (16%) and miscellaneous (0.5%). Pregnancy was terminated in 39 cases and fetal demise complicated one third of the cases (13) of severe growth retardation., Conclusion: Fetal echogenic bowel should be investigated and a careful follow-up is necessary if there is associated Doppler perturbation or growth retardation., (Copyright 2003 S. Karger AG, Basel)

In the newborn, cerebral pial arteriovenous malformation has been recognized as a cause of congestive heart failure. Prenatal diagnosis allows early medical treatment of cardiac failure and increases the chance of successful neuroradiological intervention. This paper highlights the importance of careful prenatal cerebral examination in cases of cardiac ventricle enlargement., (Copyright 2002 S. Karger AG, Basel)

Objective: Recent studies on the management of human fetal gastroschisis have produced two major findings: (1) there is an inflammatory response in the amniotic fluid of these fetuses, and (2) amniotic fluid exchange designed to disrupt the inflammatory loop seems to have a favorable impact on the immediate and late outcome of these early operated neonates. To test this hypothesis, we used serial amniotic fluid exchanges in a model of gastroschisis developed in the ewe., Methods: Gastroschisis was created at midgestation in 21 lamb fetuses by an in utero technique. Saline was amnioinfused in some fetuses every 10 days to term. Fetuses were sacrificed on day 145 by cesarean section. Extra-abdominal bowels with fibrous peel were processed for histologic examination. Comparisons were done between fetuses without gastroschisis (controls), fetuses with gastroschisis and amnioinfusion, and fetuses with gastroschisis without amnioinfusion., Results: Of 21 fetuses operated, 8 died in utero or were stillborn; 5 were not amnioinfused, and 8 underwent amnioinfusion. Thickness of bowel muscularis (micrometer) was 92.6 +/- 20.2 for controls, 126.2 +/- 21 for the amnioinfused fetuses, and 182.8 +/- 58.3 for the nonamnioinfused fetuses (p = 0.001). The same significant results were obtained for thickness of serous fibrosis (p = 0.02) and plasma cell infiltration (p = 0.015)., Conclusions: We have created a model of gastroschisis suitable for experimentation in the fetal sheep. Our amnioinfusion data in this model indicate a clear improvement of the deleterious process. This finding correlates well with recent data on amnioinfusion as a therapeutic approach to human gastroschisis., (Copyright 2000 S. Karger AG, Basel.)

Objective: Diagnosis of the Bart's hydrops fetalis [corrected]., Method: Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. Cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin., Result: As there is no known effective treatment, termination of pregnancy was proposed to the patient., Conclusions: Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk.

Objective: To evaluate the prognosis of prenatally diagnosed gastroschisis., Study Design: In a retrospective study, we analyzed the clinical and echographic data of gastroschisis. These data were correlated with fetal outcome including delivery, surgical procedure, follow-up in the neonatal intensive-case unit and in the gastropediatric unit., Result: Twenty cases were analyzed. The overall survival rate was 85%. Classical criteria were analyzed (maximal bowel dilatation, thickening of bowel wall). Fetuses with both severe perivisceritis and meconium-stained amniotic fluid were born earlier than fetuses with mild perivisceritis and normal amniotic fluid (p < 0.01)., Conclusion: Our data suggest that an inflammatory response could follow bowel exposure to amniotic fluid. This response could lead to perivisceritis and premature birth. This hypothesis is currently under investigation.

Background: The association of hyperthyroidism and pregnancy is a rare but serious condition which can jeopardize fetal outcome. Classical follow-up relies on: serial clinical and echographic assessment; serial funipuncture to determine fetal thyroid status, and maternal propylthiouracil (PTU) treatment to treat fetal and/or maternal hyperthyroidism., Case: We report the case of a euthyroid patient with Graves' disease who had already been delivered of two hyperthyroid fetuses; the present pregnancy revealed a hyperthyroid fetus diagnosed by funipuncture. Echography showed a fetal goiter at 28 weeks of gestation (WG) with important signal on colored Doppler echography. We observed an extinction of this signal as maternal PTU treatment was intensified. The patient was delivered of a mildly hyperthyroid newborn at 37 WG. Both newborn and patient are doing well., Conclusion: Fetal thyroid assessment by colored Doppler echography could help in the management of fetal thyroid dysfunction.

In order to evaluate the efficiency of antenatal diagnosis and postnatal management of urinary malformations, we reviewed 142 cases from October 1988 to December 1992 with abnormalities detected by routine ultrasound. A routine karyotype analysis showed 7 fetuses with chromosomal defects. Nine cases with isolated bilateral urinary tract dilatation underwent pelvic fetal urine sampling in order to assess antenatal renal function. The 142 cases comprised 107 children born alive (group I) and 35 intrauterine fetal deaths (group II). In group I, 79 kidneys had a transient pyelectasis, and 11 kidneys had a hydronephrosis which disappeared at postnatal examination. Among 103 pyelectasis cases detected during the second trimester of pregnancy, 22 kidneys were pathological after birth (positive predictive value (PPV) = 21.4%) with 17 ureteropelvic junction obstructions. The PPV was 66% when ultrasound showed hydronephrosis at the end of pregnancy. In that group, 15 cases had vesicoureteric reflux, with 5 cases where the homolateral upper urinary tract was morphologically normal in utero. Group II comprised 27 fetuses with multiple defects in other systems, and 8 cases with urological defects only 7 of which had urethral anomalies. This study confirmed the benefit of antenatal diagnosis for uropathies, and the advantage of prenatal consultation between pediatric surgeon and parents in order to explain what anomalies are involved and to program postnatal follow-up.

A de novo structural abnormality of one X chromosome was prenatally detected in a female fetus. This chromosomal abnormality has been analyzed by conventional cytogenetic methods, fluorescence in situ hybridization, and laser scanning image cytometry. The association of these techniques has demonstrated that this anomaly corresponds to a (X;X) translocation. Analysis of hybridization signals by laser scanning image cytometry allowed to localize that the breakpoints were at the X-centromeric region and Xp11.3, respectively. These results show the usefulness of image analysis and fluorescence in situ hybridization for a rapid characterization of de novo structural chromosome anomalies in prenatal diagnosis.

A case of prenatal gastrointestinal bleeding is presented. Abnormal echogenic amniotic fluid was detected by routine ultrasound during the third trimester of a normal pregnancy. The diagnosis and postnatal implications of antenatal hemorrhage are discussed, with a review of the literature. To our knowledge, this is the first case to be diagnosed in utero and resulting in preterm delivery.

This study was aimed at testing if measurement of adult hemoglobin (HbA) by ion exchange high-performance liquid chromatography could serve as a purity control of fetal blood samples. We studied 240 samples obtained for karyotyping by cordocentesis under ultrasound guidance. Mean red cell volume (MCV), red cell distribution width (RDW) and HbA were measured on each sample. HbA was determined from 5 microliters of blood in 8 min. From 18 to 30 weeks of gestation, HbA values in fetal blood do not vary and are tightly clustered around 5.4% (SD:1.1%). After 30 weeks, HbA increases as the fetal to adult switch begins. Experimental contaminations of fetal blood by maternal blood show that HbA variations are more pronounced than MCV or RDW variations. A 5% contamination is readily detected. This approach is rapid, sensitive and reliable. Incidentally, it readily detects the presence of an abnormal hemoglobin.

Cerebral hemorrhages are the most serious complication in preterm and hypotrophic neonates. The mechanisms underlying the formation of these hemorrhages are unclear. In utero Doppler cerebral velocimetry is not yet used as a parameter to predict this complication. Our case allowed us to analyze the evolution of cerebral Doppler abnormalities with the appearance of an intracerebral hemorrhage. The modifications in the Doppler cerebral velocimetry could not be predicted. Therefore it is necessary to determine other parameters which show the evolution of the intracerebral vasomotricity.

We have investigated the ultrasonographic signs that can help in the prenatal diagnosis of cystic fibrosis in 197 risk fetuses and compared them with 353 control fetuses. In 60 fetuses with a 1:4 risk for the disease, the gallbladder was also examined. All ultrasonograms were performed just before amniocentesis at 17-19 weeks of gestation. A previously described intra-abdominal hyperechogenic mass was found in 73% of the 48 affected fetuses, but 32 of the 149 unaffected fetuses also had this feature, giving a specificity of 77% and a sensitivity of 78%. When we investigated the gallbladder, we found 9 of the 12 affected fetuses to be without evidence of a gallbladder during the sonographic examination (none of the healthy or control fetuses had such a feature), giving a positive predictive value of 100%, a specificity of 100% and a sensitivity of 75%. The combined presence of an abnormal gallbladder and a hyperechogenic intra-abdominal mass yields the same positive predictive value and specificity, but does not improve the accuracy. Ultrasonography appears to be a good additional diagnostic tool for the prenatal diagnosis of cystic fibrosis, especially when the enzyme activities disagree. Furthermore, these results lead us to think that such a finding during routine ultrasonographic examination at 17-29 weeks could be a means of screening for cystic fibrosis. The absence of the gallbladder during the sonographic examination of fetuses at risk for cystic fibrosis at 17-19 weeks of gestation can help in the prenatal detection of the disease.