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Resume Hormis les situations de pathologie vasculaire maternelle majeure, les retards de croissance intra-uterins severes et precoces sont le plus souvent rapportes a une pathologie ovulaire. Nous rapportons le cas d'une anomalie chromosomique homogene (tetraploidie) confinee au placenta illustrant une etiologie rare des retards de croissance intra-uterins severes. Le diagnostic precoce, sur biopsie placentaire, a permis d'organiser une surveillance prenatale specifique et la naissance prematuree d'une enfant au caryotype normal recuperant en postnatal son retard de croissance. A partir de la pathologie en cause, nous discutons de la chronologie des examens realises dans le bilan des retards de croissance in utero.

Resume Cet article decrit les techniques actuelles des prelevements fœtaux. Tous ces prelevements sont maintenant echoguides et donc globalement tres surs. Un apprentissage serieux est neanmoins indispensable ainsi qu’une attention particuliere a la qualite du dialogue medecin-patiente. Le choix de la technique depend de l’indication et du terme de la grossesse. Le prelevement le plus frequemment realise est l’amniocentese, avec un risque de fausse couche tres faible, estime entre 0,2 et 0,5 %. L’interet de la biopsie de trophoblaste est d’obtenir des resultats plus tot dans la grossesse — vers 10–11 semaines d’amenorrhee — avec une prise de risque moindre que lors d’une amniocentese precoce. Nous realisons ce geste, de facon quasi exclusive, par voie abdominale a l’aiguille. Le prelevement de sang fœtal est un acte plus delicat, avec un risque de complications estime autour de 1 %, mais qui reste a ce jour incontournable dans certaines indications.

En este articulo se describen las tecnicas de extraccion de muestras fetales que se emplean hoy en dia. En la actualidad, todas ellas se efectuan bajo control ecografico, por lo que, en terminos generales, son muy seguras. No obstante, resulta indispensable un aprendizaje formal, asi como una especial atencion a la calidad del dialogo medico-paciente. La eleccion de la tecnica depende de la indicacion y del termino del embarazo. La extraccion de muestras mas frecuente es la amniocentesis, con un riesgo de aborto muy bajo, estimado entre el 0,2-0,5%. El interes de la biopsia trofoblastica radica en obtener resultados lo antes posible en el embarazo -hacia las 10-11 semanas de amenorrea-; esta conlleva menos riesgo que una amniocentesis precoz. Los autores de este articulo realizan esta intervencion, de forma casi exclusiva, por via abdominal con aguja. La extraccion de sangre fetal constituye una intervencion mas delicada, con un riesgo de complicaciones que se estima en alrededor del 1%, pero que, hasta el momento, resulta ineludible en determinadas indicaciones.

Resume La circulation fœtale a toujours attise l’enthousiasme des physiologistes. Les principes generaux presidant a la circulation fœtale sont d’abord nes de l’imagination des premiers physiologistes, puis ont ete demontres chez l’animal. Plus recemment, les progres realises par la technologie des ultra-sons ont permis une etude non invasive de la circulation fœtale chez l’homme. Ces travaux ont permis de confirmer la plupart des concepts decrits chez l’animal. Cependant, ils ont aussi mis en lumiere des differences notables refletant vraisemblablement des differences entre les especes. Ces differences pourraient egalement rendre compte des limites de l’interpretation de donnees issues d’experimentations realisees par des techniques invasives chez l’animal.

Resume Les techniques de prelevement de sang fœtal ont permis d'enrichir considerablement les connaissances sur les valeurs physiologiques des parametres hematologiques avant la naissance. Avant d'interpreter les resultats, il importe de verifier la qualite de l'echantillon et l'absence de contamination d'origine maternelle. La connaissance des normes biologiques du sang fœtal est un prealable indispensable a la qualite du diagnostic et des indications therapeutiques.

Resume Le prelevement de sang fœtal a ete mis au point dans les annees 1980. Cette technique d’exploration fœtale invasive est devenue, entre des mains experimentees, un outil diagnostique majeur avec un taux de complications faible. Elle permet d’elargir les possibilites et la precision du diagnostic antenatal en hematologie fœtale et d’envisager des therapeutiques in utero, au premier rang desquelles la transfusion. Le present article fait le point des aspects techniques et des indications hematologiques actuelles de l’acces direct au sang fœtal.

Gaucher disease is a lysosomal storage disease caused by glucocerebrosidase deficiency. Although purely visceral in most cases, some Gaucher disease patients have neurological signs. Signs of Gaucher disease appear after a symptom-free period, except in rare cases with fetal onset. The description of such cases was based mainly on single reports and siblings. We report here a series of perinatal-lethal Gaucher disease cases highlighting the specificity of this phenotype. We retrospectively studied eight original cases of proven Gaucher disease with fetal onset. Non-immune hydrops fetalis was present in all cases but one, and associated with hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphy. The similarities between our cases and 33 previously described cases allow us to better delineate the perinatal-lethal Gaucher disease phenotype. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurological involvement begins in the first week and leads to death within three months. Hepatosplenomegaly is a major sign, and associated with ichthyosis, arthrogryposis, and facial dysmorphy in some 35-43% of cases. Perinatal-lethal Gaucher disease is a specific entity defined by its particular course and signs that are absent in classical type 2 Gaucher disease. Our study provides clues to the diagnosis of this likely underdiagnosed condition, which must be biochemically confirmed in order to propose appropriate genetic counselling.

Une naissance avant 28 semaines de gestation definit ce qu'il est convenu habituellement d'appeler l'extreme prematurite. Ces naissances avant 28 semaines, qui representent moins de 0,5% des naissances, sont celles qui, d'une part, posent le plus de problemes en termes de pathologies somatiques et de devenir neurodeveloppemental et, d'autre part, ont les durees d'hospitalisation neonatale les plus prolongees.

Toutes les etudes epidemiologiques sur les prematurissimes (c'est-a-dire les enfants nes avant 28 semaines d'amenorrhee, soit jusqu'a 27 SA + 6 jours) et en particulier leurs taux de survie, sont conditionnes par l'attitude specifique des equipes et par leur type de recrutement.

L' ensemble des communications precedentes sur le CMV montre la grande quantite d'interrogations qui persistent dans tous les domaines.

Resume La survenue d'une varicelle clinique en cours de grossesse est une eventualite rare entrinant des risques de complications maternelles et foetales. Les complications maternelles sont essentiellement pulmonaires (environ 16 % des cas) avec menace vitale. Les complications foetales sont de 2 types differents: u • Avant 24 semaines d'amenorrhee (SA) la transmission au foetus (estimee a 8 % environ) peut etre responsable: d'un syndrome de varicelle congenitale (VC) (environ 2 % des cas) associant des lesions cutanees et nerveuses peripheriques a des lesions systemiques et nerveuses centrales, d'un zona dans les premiers mois de vie dans environ 3 % des cas ou d'une forme asymptomatique dans environ 3 % des cas. Le diagnostic prenatal est accessible sur liquide amniotique par analyse en biologie moleculaire. • La varicelle perinatale comporte un risque d'environ 25 % de contamination peripartum et entraine une varicelle neonatale souvent grave et parfois letale. Ce risque existe essentiellement dans les eruptions maternelles entre 5 jours avant et 2 jours apres l'accouchement. La survenue d'un zona en cours de grossesse n'entraine pas d'augmentation du risque malformatif foetal.

Sur pres de 3 200 seroconversions toxoplasmiques pergravidiques prises en charge par notre equipe, le diagnostic d'infection fœtale in utero a ete confirme dans 6,3 % des cas. Sur cette population de fœtus infectes, 1,8 % (un tiers d'entre eux) ont subi une interruption medicale de la grossesse alors que 4,4 % (deux tiers des infectes) ont donne naissance a des enfants atteints de toxoplasmoses congenitales sans sequelles importantes sur le plan neurologique et/ou ophtalmologique. Cette information met d'emblee en evidence le fait que la conduite a tenir face a une toxoplasmose fœtale n'est pas univoque. Mais la simplicite de ces chiffres cache des disparites considerables selon le terme de la grossesse au moment de l'infection. Le terme de l'infection est le facteur determinant pour conseiller au mieux les patientes quant a la conduite a tenir.

La toxoplasmose congenitale peut entrainer des sequelles graves qui peuvent s'observer durant la periode neonatale en cas de toxoplasmose severe ou plusieurs annees apres la naissance (chorioretinites). Le diagnostic prenatal de l'infection fœtale est difficile et repose classiquement sur l'echographie (7), l'amniocentese et le prelevement de sang fœtal (2). Obligatoire en France, le depistage des femmes enceintes reste controverse a l'etranger (5). L'introduction du diagnostic prenatal en France a permis de preciser les risques, d'ameliorer le suivi et le traitement in utero, de diminuer l'incidence des toxoplasmoses congenitales severes et enfin de diminuer le nombre d'interruptions de grossesse pour cette pathologie. Considerant le risque d'accidents lies au prelevement de sang fœtal, les delais pour l'obtention des resultats parasitologiques definitifs et la possibilite de diagnostics faussement negatifs (6), une nouvelle strategie a ete definie pour augmenter la securite, la rapidite et la sensibilite du diagnostic prenatal.

Resume Cet article met l'accent sur le role important du laboratoire dans la recherche de signes biologiques specifiques et non specifiques de l'infection toxoplasmique. Les auteurs exposent egalement leur conception de la conduite therapeutique en fonction de la periode ou l'infection s'est produite.

Hydrocolpos may be associated with a lower urinary tract obstruction in a spectrum of urorectal malformations ranging from persistent urogenital sinus to cloacal dysgenesis. As cloacal dysgenesis carries the worst postnatal prognosis, detailed prenatal ultrasound should focus on the fetal pelvic anatomy to provide the parents with appropriate prenatal counseling. We report three cases of fetal hydrocolpos associated with low urinary tract obstructions, including two with a normal appearance of the anal canal and rectum on prenatal ultrasound and one with a complex cloacal malformation which contributed to the precise prenatal assignment of the malformation in each case within the spectrum of urogenital sequence malformations.

Except for cases due to maternal hypertension, severe and early intrauterine growth retardations are most usually due to fetal abnormalities. We report a case of confined placental homogenous tetraploidy associated with major fetal growth retardation leading to the premature delivery of a life born baby with a normal caryotype. We discuss the interest of chorionic villus sampling in cases of unexplained severe fetal growth retardation.

The fetal circulation has been an exciting area of study for centuries. The principles which grew from the period of hypotheses have been demonstrated in several animal models. These experiments have shaped the major concept of fetal circulation. More recently, the improvement in ultrasound technology has allowed a non invasive study of the fetal circulation in humans. Although the general schema of the fetal circulation has been confirmed in humans, in some aspects some substantial differences have been demonstrated. They may not only reflect some inter-species differences, but also underscore the limitation of chronically instrumented animal studies.

This article describes the current techniques of foetal sampling. All of them are actually ultrasound guided, and therefore generally very safe. Nevertheless, an elaborate learning process remains indispensable, in addition to a particular attention to the quality of the physician-patient dialogue. The choice of a technique depends on the indication and on the term of the pregnancy. The most frequently used technique is amniocentesis which presents a low risk of foetal loss, estimated between 0.2 and 0.5 percent. The interest of chorionic villus sampling is the possibility to obtain results at an earlier stage of pregnancy, with a lower risk taking when compared to early amniocentesis. We prefer the transabdominal chorionic villus sampling to the transvaginal. Foetal blood sampling is still required in some cases, but the risk of complications is higher--around 1 percent.

Gaucher disease is a lysosomal storage disease caused by glucocerebrosidase deficiency. Although purely visceral in most cases, some Gaucher disease patients have neurological signs. Signs of Gaucher disease appear after a symptom-free period, except in rare cases with fetal onset. The description of such cases was based mainly on single reports and siblings. We report here a series of perinatal-lethal Gaucher disease cases highlighting the specificity of this phenotype. We retrospectively studied eight original cases of proven Gaucher disease with fetal onset. Non-immune hydrops fetalis was present in all cases but one, and associated with hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphy. The similarities between our cases and 33 previously described cases allow us to better delineate the perinatal-lethal Gaucher disease phenotype. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurological involvement begins in the first week and leads to death within three months. Hepatosplenomegaly is a major sign, and associated with ichthyosis, arthrogryposis, and facial dysmorphy in some 35-43% of cases. Perinatal-lethal Gaucher disease is a specific entity defined by its particular course and signs that are absent in classical type 2 Gaucher disease. Our study provides clues to the diagnosis of this likely underdiagnosed condition, which must be biochemically confirmed in order to propose appropriate genetic counselling.

High-resolution real-time ultrasonography now permits the differentiation between nuchal translucencies and cystic hygromata of the neck in the first trimester. A series of 85 nuchal anomalies are presented that were diagnosed by ultrasonography at 9–14 weeks' gestation; their association with chromosomal defects and fetal outcome are also presented. Chromosomal anomalies were found in 8/29 nuchal translucencies and in 16/56 cystic hygromata of the neck. However, in fetuses with normal karyotype, additional defects were diagnosed in l0/40 fetuses with cystic hygromata and in none with nuchal translucency. These data may be important for the management of these conditions and for counselling the patients toward further pregnancy. Copyright © 1992 International Society of Ultrasound in Obstetrics and Gynecology

To analyze the patient's point of view concerning pregnancy termination for fetal anomaly.A questionnaire concerning the different steps of medical termination of pregnancy was given to 103 women on day 2 after termination.Most women thought that they were the ones who should make the decision (67%). Complete information prior to the procedure was greatly appreciated (81%). Physical pain remained one of the main concerns for patients given Dilapan. 94% of the women had epidural anesthesia before induction. Various mourning patterns were observed. Only 41% of the women wished to see their baby after termination; there was a correlation with age of pregnancy and social environment. Psychological assistance involved the entire team and a consultation with a pedopsychiatrist (81%). The most painful moment was the moment when breaking the new of the fetal anomaly.The women were very much in need of expressing their sorrow very soon after the event. Team work and lack of rigidity in care taking enhances the expression of individual resources, both by the medical team and the patients. Three points were highlighted by the patients.--the desire to participate in the decision making;--the importance of in-depth information on technical aspects of the procedure;--initial new breaking is recognized as a major trauma.

Thrombomodulin (TM) is an endothelial cell surface proteoglycan with anticoagulant functions, also implicated in cell proliferation, cell-cell adhesion and differentiation. In this study we determined circulating plasma TM (pTM) levels in human foetuses at different stages of pregnancy, at birth and in childhood. TM levels increased with gestational age, the median level reaching a peak of approximately 165 ng/ml between the 23rd and 26th week, thereafter decreasing gradually, reaching a value of 108 ng/ml at birth. pTM continues to decrease progressively during childhood, reaching in the 5-15 years group a median of 56 ng/ml which approaches the adult value. The pTM peak was statistically significant and represents a specific foetal phenomenon as it was independent of the corresponding maternal values. As a whole, the pTM pattern during foetal maturation appears totally different from that of protein C, prothrombin and other coagulation activators and inhibitors and thus, TM may play in the foetus another role in addition to its well-known anticoagulant function.

Thirteen cases of fetal parvovirus B19 infection with hydrops foetalis are reported. Viral DNA was identified by polymerase chain reaction (PCR) of amniotic fluid sampled between the 19th and the 29th week of gestation. Haematological examination revealed severe anaemia in all cases and thrombocytopenia in 11/13 cases, which was severe in two cases. Six fetuses died in utero; two after intrauterine transfusion. Complete recovery was observed in seven fetuses; five cases were treated by intrauterine transfusions, and in two cases spontaneous recovery occurred. Upon follow-up, no case of congenital anaemia was observed.

Objective To evaluate the prognostic value of ultrasound abnormalities and of selected biological parameters in blood of fetuses infected with cytomegalovirus (CMV). Design Retrospective observational study. Setting Two fetal medicine units in Paris, France. Population All fetuses infected with CMV referred between 1998 and 2006. Methods We retrospectively analysed data collected prospectively in 73 fetuses infected by CMV with a positive CMV polymerase chain reaction in amniotic fluid. Fetal blood sampling (FBS) was performed for evaluation of platelet count, plasma levels of aminotransferases and gamma-glutamyl transpeptidases (GGT), presence of viraemia and specific fetal immunoglobulin M. Targeted ultrasound examination was performed every fortnight. Ultrasound findings were categorised into normal examination and any ultrasound abnormality, which was further grouped as ultrasound abnormality of the fetal brain and noncerebral ultrasound abnormality. Main outcome measures A combination of histological findings after termination of pregnancy and evidence of cytomegalic inclusion disease at birth when pregnancies were continued. Clinical symptoms at birth or histological lesions attributable to CMV were considered as poor outcome. Statistical analysis was conducted to determine the value of each parameter to predict outcome. Logistic regression was used to build up a multivariate model combining the relevant parameters. Results In univariate analysis, only thrombocytopenia and the presence of any ultrasound abnormality were associated with a poor outcome (P < 10−4 for both abnormalities). In the multivariate analysis, both thrombocytopenia and the presence of ultrasound abnormalities remained significant independent predictors of a poor outcome. Based on univariate logistic regression, odds ratio for a poor outcome were 1.24, 7.2, 22.5 and 25.5 for each 10 000/mm3 decrease in platelet count, the presence of noncerebral, any ultrasound and cerebral ultrasound abnormalities, respectively. Conclusions The prognosis of CMV-infected fetuses relies independently on both targeted ultrasound examination and fetal platelet count. FBS for platelet count may therefore justify FBS in infected fetuses even in the absence of ultrasound. features of brain involvement.

A case of arteriovenous fistula of the liver diagnosed at 30 weeks of gestation is reported. The etiologies of an hypoechogenic structure in the fetal liver are discussed showing the contribution of pulsed wave Doppler and color Doppler to the diagnosis. The clinical evolution towards heart failure led us to examine the pathophysiology of such a lesion. The prenatal management of this arteriovenous malformation is exposed.

The C24 bile acids (BA) in the serum of 22 healthy human fetuses between weeks 20 and 37 of gestation were determined by capillary GC-MS. Fetal blood samples were taken in utero from the umbilical cord monitored by echography. There was no correlation between total bile acids (TBA) and gestational age. The TBA concentration was 5.14 +/- 2.13 microM. Primary BA (cholic acid and chenodeoxycholic acid) were the main BA (66.78 +/- 13.47%) with chenodeoxycholic acid being the main one. There were low concentrations of secondary BA (deoxycholic acid and lithocholic acid) (10.28 +/- 7.85%), which formed by intestinal bacterial 7 alpha-dehydroxylation of primary BA in the adult, despite the germ-free gut. The tertiary BA (ursodeoxycholic acid) was also detected (12.06 +/- 9.64%). There was 6 alpha-hydroxylation of chenodeoxycholic acid and of lithocholic acid to produce hyocholic acid and hyodeoxycholic acid respectively. Two 1 beta-hydroxylated BA were detected at different times of gestation. Cholic acid was rarely found in the 6 alpha- and 1 beta-hydroxylated forms. These additional hydroxylations could help to protect the fetal liver against the accumulation of cytotoxic bile acids at a time when other detoxification pathways are poorly developed. Traces of unsaturated bile acids like 3 beta-hydroxy-5-cholenoic acid were detected, showing that 27-hydroxylation of cholesterol does occur.

The first case of prenatal diagnosis of congenital varicella by amniotic fluid viral culture and PCR is reported. Chickenpox is a benign disease in children, but it can lead to severe complications in the adult, especially in the pregnant woman. Five percent of women in childbearing age are not immunised, and the incidence of gestational chickenpox is between 1 and 7 per 10,000. The consequences of this primary infection during pregnancy can be severe for the mother, because of the risk of serious varicella pneumonia, and for the fetus. The fetal infection depends on the gestational age at which the maternal infection occurs. The 2% evaluated risk of fetopathy is maximal between the 7th and 20th week of amenorrhoea. The reported congenital abnormalities are essentially cutaneous, neurological, ophthalmological and musculo-squeletal lesions. A prenatal diagnosis can be suggested: the revelation of defects by ultrasound scan confirms the fetal affection, and can justify pregnancy termination; on the other hand, amniocentesis and cordocentesis are not totally safe, and cannot always assert the fetal contamination or its level of affection. From the therapeutical point of view, prevention with polyvalent gamma-globulin is prescribed to non-immunised pregnant women who have been in contact with the virus. On the opposite, in case of contracted chickenpox, the treatment of the mother with an association of polyvalent gamma-globulin and acyclovir is still controversial since, although probably effective, it may not be safe for the fetus. The solution may reside in the vaccination, soon available, of non-immunised women in childbearing age.

Fetal/neonatal immune thrombocytopenias result from increased platelet destruction by maternal antiplatelet antibodies. There is a risk of intracerebral haemorrhage and therefore of neurological impairment or death during the thrombocytopenic period, especially if a defective platelet function co-exists. As no maternal parameter is predictive of the fetal platelet count, the only reliable assessment of the fetal status depends on the fetal blood sampling. Only in case of materno-fetal alloimmunisation the therapy initiated to reverse fetal thrombocytopenia was shown to be effective, but the optimal mode of antenatal treatment is currently under study. As the neonatal therapy and the management of subsequent pregnancies are somehow different it is mandatory to make the distinction between the auto or allo-origin of the fetal thrombocytopenia. The definition of high risk pregnancies will be of help for the development of a routine screening program.

Ocular toxoplasmosis is often the result of a congenital infection. However, the earlier stages of the ocular lesions in the fetus have not been well studied. The purpose of the present study is to analyze the ocular findings in four aborted fetuses that were infected congenitally with Toxoplasma gondii.Eight eyes from four fetuses of 22 to 27.5 weeks with T. gondii infection were studied by routine and immunohistochemical techniques. Two of the four were also examined by polymerase chain reaction (PCR).In two cases, the results of gross and histopathologic of the eyes were normal; marked retinal necrosis was present in the other two cases. Although no toxoplasmic cysts were identified by routine histopathologic examination, antigens of the tachyzoite were detected by immunohistochemistry analysis in the areas of retinal necrosis. In one of the cases with ocular lesions, the presence of T. gondii was confirmed by PCR. The presence of ocular lesions correlated with the severity of pathologic changes in the central nervous system. Large numbers of T cells were observed in the retinal lesions and in the choroid.Retinal necrosis, neovascularization, and marked chorioretinal inflammations despite the absence of bradyzoites are characteristic findings in the fetal eyes infected with T. gondii, and infiltrating T lymphocytes play a role in early recognition of the toxoplasma organism.

Congenital toxoplasmosis results from contamination of the foetus by Toxoplasma gondii during pregnancy. It is a frequent and severe condition calling for close surveillance of mothers at risk. During the last few years, numerous advances have been made in the diagnosis and treatment of toxoplasmosis. Its diagnosis in the mother is now more reliable due to improvements in serological techniques, while in the foetus the use of foetal vascular techniques has made it possible to detect those who are infected. Owing to a new and effective therapeutic method certain foetuses can now be treated successfully in utero, so that induced abortion is reserved to cases with severe and early toxoplasmosis. The contribution of new molecular biology techniques to advances in this ever moving field is explained.

High-resolution real-time ultrasonography now permits the differentiation between nuchal translucencies and cystic hygromata of the neck in the first trimester. A series of 85 nuchal anomalies are presented that were diagnosed by ultrasonography at 9-14 weeks' gestation; their association with chromosomal defects and fetal outcome are also presented. Chromosomal anomalies were found in 8/29 nuchal translucencies and in 16/56 cystic hygromata of the neck. However, in fetuses with normal karyotype, additional defects were diagnosed in l0/40 fetuses with cystic hygromata and in none with nuchal translucency. These data may be important for the management of these conditions and for counselling the patients toward further pregnancy.

Prevention of congenital toxoplasmosis requires identification of non immune women at the beginning of pregnancy, instruction on how to avoid contamination and a serological follow-up of the women until the delivery. The latter is easily achieved by a repeated testing for specific IgG and IgM. Most of the interpretation difficulties arise from results suggestive of recent infection obtained on a first specimen. If no rise in IgG titer is demonstrated on a second serum sample, the use of additional tests studying other Ig-isotypes or acute-phase IgG antibodies can be helpful, mainly as a way to exclude the possibility of infection acquired during pregnancy. Congenital infection can be investigated by biological measurements on fetal blood and by ultrasound examination. Detection of specific IgM and IgA in fetal serum must be interpreted with care because of the existing risk of contamination with maternal blood. Demonstration of Toxoplasma gondii in fetal blood or amniotic fluid by mouse inoculation definitely proves the diagnosis; though less sensitive, tissue culture offers the advantage of a more rapid result. The very promising results obtained by the PCR-method applied to amniotic fluid samples give the hope that it can replace som of the existing confirmatory methods.

Les grandes nouveautes de la medecine prenatale pourraient venir des avancees de la physique (utilisation de la resonance tissulaire ou des sondes a multicristaux en echographie, amelioration des techniques laser dans la prise en charge des grossesses gemellaires), de la biologie (hybridation in situ sur noyau interphasique pour la cytogenetique, amplification d'ADN fœtal recupere dans le sang maternel pour le phenotypage Rhesus, etc.) ou encore de l'epidemiologie (utilisation des donnees statistiques pour l'evaluation du risque d'aneuploidie sur la combinaison des marqueurs seriques, âge maternel, et aspects echographiques chez un fœtus donne, etc.). On pourrait evoquer la meilleure comprehension des mecanismes de tolerance immunitaire de la grossesse normale, leur dysfonctionnement dans certaines situations pathologiques, ou faire le point sur les progres therapeutiques dans la prevention des retards de croissance, ou la prevention de l'accouchement premature. Ces progres medicaux pourraient chacun faire l'objet d'un article autonome. Nous avons plutot choisi d'aborder aujourd'hui leur nouveau mode d'utilisation qui modifie largement la medecine prenatale en tant que telle. Ces dernieres annees ont vu se modifier progressivement et profondement l'image du fœtus et le role des medecins du prenatal dans l'esprit des patientes, des medias, des responsables politiques et des soignants eux-memes.

alpha 1-Acid glycoprotein concentrations and reactivity to concanavalin A were measured in maternal and fetal serum and amniotic fluid obtained from 24 women undergoing diagnostic cordocentesis at 20 to 33 wk gestation and in 30 additional fetal sera (19 to 34 weeks gestation). Maternal alpha 1-acid glycoprotein serum levels were five to ten times higher than fetal and amniotic levels. Fetal alpha 1-acid glycoprotein levels were found to increase with advancing gestational age. Using crossed immunoaffino electrophoresis with concanavalin A, alpha 1-acid glycoprotein patterns were identical in maternal serum and amniotic fluid but totally different in fetal serum. The fetal concanavalin A pattern changed progressively during fetal life towards that of the newborn. These data confirm earlier assumptions of fetal synthesis of alpha 1-acid glycoprotein and provide normal reference values for alpha 1-acid glycoprotein in fetal serum. In addition, the specific fetal concanavalin A pattern indicates that the alpha 1-acid glycoprotein glycosylation process during fetal life differs from that in post-natal life.

Many congenital infections can produce foetal diseases and are sometimes responsible for major disablements. The most frequent infectious foetal diseases are toxoplasmosis, rubella and chickenpox. Diseases caused by parvovirus or cytomegalovirus are exceptional. Foetal blood sampling has considerably simplified the prenatal diagnosis and made it accessible to more medical centres; it has also widened the therapeutic possibilities and above all, it has considerably reduced the number of therapeutic abortions. It may well be that the development of molecular biology, which has the great advantage of permitting an earlier diagnosis, will in the near future make it possible not only to detect numerous monogenic diseases before birth, but also to diagnose some foetal infections. We might then hope that a much earlier treatment in utero will also be more effective.

Eighty-nine cases of proven Toxoplasma gondii fetal infection were studied in order to describe the morphological lesions which could be demonstrated on ultrasound examination; these were present in 32 of the infected cases. Cerebral ventricular dilatation was the most common sign and was generally bilateral and symmetrical. Its evolution was always very rapid over a period of a few days. Other signs observed included intracranial and intrahepatic densities, increased thickness and hyperdensity of the placenta, ascites and rarely pericardial and pleural effusions. Thirteen fetuses demonstrated two or more ultrasound features. Intrauterine growth retardation and microcephaly were not observed. Ultrasonographic assessment of the fetus injected with Toxoplasma gondii is important. It improves the reliability of prenatal diagnosis and is of important prognostic value in cases with severe brain lesions, but is of little value in detecting brain necrosis without ventricular dilatation.

The mothers of 52 cases of toxoplasmic fetopathy diagnosed in utero by fetal blood and/or amniotic fluid sampling were treated with the combination pyrimethamine-sulfadiazine (or sulfisoxazole) and by spiramycine. The infants were compared with 51 other infants with congenital toxoplasmosis whose mothers had received spiramycine alone. Patients of both groups received the same pyrimethamine-sulfadiazine and spiramycine treatment after birth. Parasitologic examination of the placenta was positive in 42 and 76.6% of patients, in group I and group II respectively. The newborns had specific IgM in 17.4 and 69.2% of cases respectively in both groups. These differences were significant. The mean specific IgG titer was significantly reduced at birth and 4 to 6 months of age in the first group. Patients in group I had more often subclinical infection than patients of the comparison group: 57% vs 33.3%. They had less often a high cerebro-spinal protein content during the first week. Prenatal treatment with pyrimethamine-sulfadrugs resulted in a less progressing infection at birth. However in cases with clinically patent toxoplasmosis, the frequency of overt localizations and their sequellae was not significantly altered. This might be related to a relatively late onset of the treatment. The pyrimethamine-sulfadrug combination given to mothers of proved infected fetuses can be rewarding. The indication might be extended to well-documented seroconverted mothers if, in the future, the acquired experience and necessary pharmacological studies bring the proof of its innocuousness.