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ABSTRACT: The aim of our study was to assess the utility and reliability of magnetic resonance imaging (MRI) in antenatal diagnosis of craniosynostosis.
We retrospectively reviewed the MRI examinations of the head of 15 fetuses requested over a period of 11 years on the basis of sonographic suspicion of craniosynostosis. The postnatal diagnosis was available for 14 neonates.
No termination of pregnancy was performed. There were four neonates with sporadic multisuture craniosynostoses, three of which were syndromic, including one Crouzon and one Pfeiffer syndrome. Eight neonates were normal, two showed cranial vault deformities without synostosis, and one was lost to follow-up. MRI showed a high predictive value for craniosynostosis, as there were no false-negative or false-positive diagnoses. However, the severity of the abnormalities were underestimated in two neonates.
We suggest that prenatal MRI has diagnostic value when synostosis is suspected on ultrasonography. Moreover, MRI is accurate in the detection of associated brain abnormalities, which is an important prognostic issue in this diagnosis. Prenatal diagnosis of craniosynostosis is difficult and could benefit from three-dimensional ultrasonography and three-dimensional CT.
Neuroradiology 07/2007; 49(6):515-21. · 2.82 Impact Factor
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ABSTRACT: Sonography is the imaging modality of choice for initial evaluation of the fetus. However, the role of MR imaging for fetal evaluation is expanding. Based on a review of seven cases, the role of MRI to further characterize renal abnormalities detected at US, especially hyperechoic kidneys, is demonstrated.
Journal de Radiologie 10/2002; 83(9 Pt 1):1073-7. · 0.42 Impact Factor
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ABSTRACT: Antenatal detection of mesoblastic nephroma by US is possible. Reviewing the literature, we found 19 previously reported cases, only 1 of which underwent prenatal MRI. We present a further case diagnosed by US and confirmed with MRI. The imaging findings and differential diagnoses are discussed. Early and correct detection of this rare entity is of great interest, as it may facilitate prevention and management of severe obstetric and neonatal complications such as polyhydramnios and prematurity. MRI can help to evaluate the origin and the morphological features of a fetal abdominal mass.
Pediatric Radiology 04/2000; 30(3):147-50. · 1.67 Impact Factor
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ABSTRACT: We report an exceptional case of para-cervical pregnancy. Ultrasonography enabled accurate diagnosis after explorative laparoscopy. Treatment was conservative involving methotrexate and surgical ablation of the pregnancy by vaginal approach with a successful outcome.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 03/1999; 28(1):69-72. · 0.42 Impact Factor
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ABSTRACT: To determine the prenatal ultrasound criteria of holoprosencephaly and their correlation with embryogenesis.
We report 12 cases of holoprosencephaly that have been discovered between January 1990 and June 1996 (eleven alobar holoprosencephalies and one semilobar holoprosencephaly) at La Grave Hospital, Toulouse.
In all cases, severe facial anomalies have been (cyclopia, cebocephaly or ethmocephaly). Prenatal ultrasound diagnosis was based on the association of brain anomalies (wide monoventricular cavity, thalami fusion, lacking of median structures) and facial dysmorphia (hypotelorism, orbital anomalies, median cleft lip ...). Finding microcephaly was a frequent sign of holoprosencephaly (64% of all cases). Chromosomal abnormalities have been found in 36% of the fetuses (Trisomy 13 is the most common). All patients underwent therapeutic abortions.
Transvaginal sonography diagnosis can be made around the 14th to 16th week amenorrhea. An early diagnosis allows an easier pregnancy termination, when such severe anomalies are found. In order to provide genetic counseling, a cytogenetic study of the fetus is necessary.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 02/1997; 26(7):687-96. · 0.42 Impact Factor
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Journal de Gynécologie Obstétrique et Biologie de la Reproduction 02/1997; 26(3 Suppl):150-3. · 0.42 Impact Factor
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ABSTRACT: The purpose of the present literature review is to assess the screening value of trisomy 21 by measurement of fetal nuchal translucency (NT) thickness in the first trimester. NT is a subcutaneous translucency between the skin and the soft tissues overlying the cervical spine, which disappears in the second trimester. Ultrasound examination was used to image a sagittal section of the fetus to measure the maximum thickness of the subcutaneous translucency. NT is physiological for a measurement < 3 mm but the incidence of chromosomal abnormalities (essentially trisomies 21, 18 and 13) increases when NT > or = 3 mm. Differential diagnoses include cystic hygroma and fetal hydrops. For screening purposes, a cut-off threshold value of > or = 3 mm, with a standardized technique, gave a sensitivity > or = 50%, a false positive rate < 5% and a positive predictive value > 1%. In the chromosomally normal group, prognosis was good, but incidence of structural defects and fetal loss increased, with a sharp rise in these complications for fetal translucency thickness > or = 5 mm.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 01/1997; 26(7):671-8. · 0.42 Impact Factor
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ABSTRACT: The aim was to determine the sensitivity and specificity of a short femur for detection of trisomy 21 in the second trimester.
Thirty-six investigators in 12 centers measured biparietal diameter and femur and foot lengths in 3582 14- to 24-week-old fetuses in mothers undergoing amniocentesis for age, history of genetic disorder, or laboratory signs.
Among the various ratios for evaluating femur shortening the femur/foot ratio appeared to be the most discriminatory. At an upper cutoff level of 0.88 a sensitivity of 35% was obtained for 4.6% false positives in normal infants. However, to only obtain 2.3% false positives, the cutoff limit had to be set at 0.85, giving a sensitivity of no more than 15%.
Determination of the femur/foot ratio improves ultrasonographic detection of trisomy 21 in the second trimester, although for systematic use it would lead to an unacceptable number of unnecessary amniocenteses.
American Journal of Obstetrics and Gynecology 08/1995; 173(1):16-9. · 3.47 Impact Factor
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ABSTRACT: To determine the sensitivity and specificity of soft-tissue nuchal-fold measurement in the second-trimester fetus for the detection of trisomy 21.
Thirty-six investigators in 12 centers measured nuchal skinfold thickness in 3308 fetuses of 14-24 weeks' gestation. All mothers were referred for amniocentesis because of age, history of genetic disorder, or laboratory findings. Those referred with an ultrasound indication for amniocentesis, including nuchal-fold thickening, were excluded.
Overall, nuchal skinfold was 6 mm or more in 8.5% of chromosomally normal fetuses and in 38% of those with trisomy 21. A false-positive rate below 5% was obtained by 81% of the investigators. Raising the cutoff of normality to 7 mm after 18 weeks' gestation improved specificity.
Although the diagnostic value of this sign in skilled hands could allow its use as an indication for genetic amniocentesis at the second trimester, the method does not appear suitable for population screening because of the high variability in the results among the investigators.
Obstetrics and Gynecology 02/1995; 85(1):103-6. · 4.73 Impact Factor
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ABSTRACT: Termination of pregnancy is usually recommended to pregnant women who have infection with Toxoplasma gondii before 26 weeks of pregnancy if the fetus is infected. No prospective studies are available on the outcome if such pregnancies are allowed to continue with anti-parasitic treatment. We prospectively studied 163 mothers with acute toxoplasma infection before 28 weeks of amenorrhoea. All received anti-parasitic treatment with 9 million IU spiramycin orally. 23 also received pyrimethamine and sulphadiazine. All had cordocentesis and regular obstetric ultrasound examinations. The 162 liveborn infants were followed up for 15 to 71 months. 3 fetuses died in utero. 27 of 162 liveborn infants had proven congenital toxoplasmosis: 10 had one or more clinical signs of congenital toxoplasmosis; 5 had isolated or multiple intracranial calcifications; 7 had peripheral chorioretinitis; and 2 had moderate ventricular dilations. All 27 are free from symptoms and have normal neurological development at 15 to 71 months of age. We conclude that in first and second trimester pregnancies with acute fetal toxoplasma infection, the pregnancy need not be interrupted if repeated fetal ultrasound is normal, and antiparasitic treatment is given.
The Lancet 08/1994; 344(8914):36-9. · 38.28 Impact Factor
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ABSTRACT: Extralobar pulmonary sequestration is part of the spectrum of bronchopulmonary foregut malformations. Usually found in the thorax, it may be located in the retroperitoneum. We report one case of subdiaphragmatic pulmonary sequestration detected by prenatal ultrasound, and diagnosed at surgery after birth. This case illustrates the diagnostic and therapeutic problems occurring during pregnancy and the neonatal period.
European Journal of Pediatric Surgery 07/1994; 4(3):173-5. · 0.81 Impact Factor
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ABSTRACT: To determine the value of antenatal diagnosis of congenital toxoplasmosis by ultrasound guided aspiration of cord blood for testing.
This is a prospective study of 176 cases. As well as obtaining fetal blood and amniotic fluid the searched for specific IgM and A as well as culturing for the parasites on human fibroblasts and inoculation of mice, as well as researching them for non-specific signs of fetal infection. 149 children were able to be followed up one year after birth.
15% of the children (22/149) were infected with toxoplasmosis. 11 out of these were diagnosed positive antenatally. For the 11 others the diagnosis of fetal infection could only be made after birth, but the non-specific signs made it possible to expect early that they had been contaminated. 59% (13/22) had latent toxoplasmosis which only showed up after a mean interval of 34 months after birth. 41% (9/22) had clinical and/or paraclinical signs of toxoplasmosis (mainly unilateral non-macular chorioretinitis and intracranial calcifications) but they are well after a follow-up period averaging 30 months.
Ultrasound alone, when it shows up fetal abnormalities, can make the diagnosis of the severity of the condition. The role of taking fetal specimens is to make clear those infants that are infected because of specific signs, and to find those fetuses which are at high risk because of non-specific signs in order to improve the management of the cases. This development has made it possible to avoid carrying out a large number of unnecessary terminations of pregnancy and has resulted in the birth of affected infants that had no functional sequelae from the infection.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 02/1993; 22(3):261-8. · 0.42 Impact Factor
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ABSTRACT: The authors report 8 cases of familial cystic hygroma concerning 3 families. In the first family, the two affected fetuses with normal karyotypes showed cystic hygroma of the neck associated with campomelic long bone disease. No other fetal anomalies in the two fetuses were found in the second family, and only one of the four abortuses revealed associated malformations (meningomyelocoele, cleft palate) in the third family. In all these cases, parental consanguinity is found, supporting an autosomal recessive mode of inheritance.
Genetic counseling (Geneva, Switzerland) 02/1993; 4(4):265-9. · 0.50 Impact Factor
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ABSTRACT: Two techniques can be used to achieve antenatal diagnosis of viral infections, i.e., amniocentesis and cord blood sampling. these procedures and their risks to the fetus are described in this article. Amniocentesis can be performed at the 15th week after the last menstrual period (LMP) under ultrasonographic guidance and carries a risk of fetal death of approximately 0.5%. Cord blood sampling, more difficult technically, can be performed at the 18th week after the LMP but is not useful for the antenatal diagnosis of infectious diseases before the 22nd or 23rd weeks. Fetal death rate is 0.5 to 1% when the procedure is performed by experienced operators. Other sampling methods, including fetal sampling and chorionic villus sampling can be used only in specific clinical situations. Situations in which ovum sampling is appropriate are outlined according to the circumstances of discovery of viral infections and the general problems raised. Emphasis is put on the need to use detailed protocols to perform these sampling procedures in order to minimize fetal risks and effectively exploit collected data.
Pathologie Biologie 10/1992; 40(7):690-3. · 1.53 Impact Factor
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ABSTRACT: The authors give biological reference figures obtained from 106 fetuses that were sampled in utero between the 20th and 34th week of amenorrhoea. These fetuses were considered to be normal because there was no clinical or ultrasound evidence of an abnormality. Furthermore the biological values sought in antenatal testing and the absence of all pathology in the first year of life, confirmed that these were normal fetuses. The result has been expressed as a global figure for all 106 fetuses; then they have been divided up according to the gestational age groups (20-23, 24-27, and 28-34 weeks of amenorrhoea). These biological reference values and their changes as the age of the fetuses advanced are discussed and compared with the figures reported in the literature.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 02/1992; 21(4):355-9. · 0.42 Impact Factor
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ABSTRACT: To study the predictive value of 9 non-specific signs for congenital toxoplasmosis.
The work was carried out as a prospective study comparing non-specific signs in 22 fetuses infected with toxoplasmosis and 59 fetuses free of the disease.
Four of the nine parameters were found to be statistically higher in the group of infected fetuses. These are the level of leucocytes (p < 0.05) gamma glutamyl transferase (p < 0.001) total M immunoglobulin (p < 0.0001) and C4 fraction of complement (p < 0.0001). This last sign which is non-specific for infection has never been looked at until now in congenital toxoplasmosis but is seems to be of great importance because its sensitivity is much greater than of all the other parameters that have been used up till now (81%) and the positive predictive value is excellent (72%). On the other hand the value of a raised leucocyte count is a matter for discussion.
The presence of even one abnormally raised feature in the fetal blood of these non-specific signs is enough to screen for a population which is of high risk for congenital toxoplasmosis and sufficient to change our attitude to treating the condition.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 01/1992; 21(7):791-4. · 0.42 Impact Factor
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Revue française de gynécologie et d'obstétrique 12/1991; 86(11):694-5.
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ABSTRACT: A case of agnathia-astomia-holoprosencephaly with prenatal ultrasound diagnosis at 23 weeks is reported and discussed. This lethal neurocristopathy, well known in mammalians, is rarely observed in humans. Prenatal diagnosis features are intrauterine growth retardation, mandibular absence or major hypoplasia, holoprosencephaly, cyclopia or hypotelorism, and in some instances frontal proboscis. This malformation is usually sporadic, but may be genetically determined as an autosomal recessive trait, since two cases in the same sibship have been reported.
Prenatal Diagnosis 04/1991; 11(3):199-203. · 2.11 Impact Factor
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ABSTRACT: Two cases of maternal-fetal human parvovirus B19 infection are reported. The first case involved a feto-placental anasarca occurring during the third trimester and complicated by in-utero death with expulsion of a fetus with multiple malformations. The second case involved meconial peritonitis during the second trimester with favourable outcome after cesarean section and resolution of the digestive syndrome. Proof of PV B19 infection was obtained by identifying M specific immunoglobulins and viral DNA. After a review of the clinical situations most often encountered and the particular features of these two cases, therapeutic attitudes are proposed for this infection of major gravity during pregnancy.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction 02/1991; 20(6):855-9. · 0.42 Impact Factor
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ABSTRACT: One of the prognostic factors for neuroblastoma is age at the time of diagnosis: neuroblastoma detected prenatally or in the first year of live have a more favorable outcome. Antenatal diagnosis is essential early management. Knowledge of local tumor extent is invaluable in determining the appropriate treatment, and MR imaging has proved to be the most useful procedure in this regard.
Pédiatrie 02/1991; 46(8-9):601-6.
