Véronique Mirlesse

Prenatal diagnosis of fetal varicella-zoster virus infection with polymerase chain reaction of amniotic fluid in 107 cases ☆ ☆☆ ★

OBJECTIVE Varicella, resulting from primary infection by varicella zoster virus, carries a risk of severe congenital varicella. Prenatal diagnosis is rarely applied because methods remain to be validated. STUDY DESIGN From 1989 to 1994, 107 women contracted clinical varicella before 24 weeks of pregnancy. Amniocentesis was performed in all cases, with simultaneous fetal blood sampling in 82 cases. Virus was detected in amniotic fluid by cell culture inoculation and polymerase chain reaction. Fetal blood was tested for anti-varicella zoster virus immunoglobulin M. RESULTS Of the 107 amniotic fluid samples tested, nine of 107 (8.4%) were positive by polymerase chain reaction, but only two of these (1.8%) were positive in cell culture; none of the blood samples from infected fetuses were positive for specific anti-varicella zoster virus immunoglobulin M. The outcome of 99 pregnancies was fully documented. CONCLUSION The risk of transplacental passage before 24 weeks of pregnancy was 8.4% in our series. The risk of congenital varicella is 3 in 107 (2.8%) and that of isolated postnatal varicella zoster infection is 3 in 78 (3.8%). Polymerase chain reaction is more sensitive than cell culture for the detection of varicella zoster virus in amniotic fluid.

FETAL SERUM INTERFERON-ALPHA SUGGESTS VIRAL INFECTION AS THE AETIOLOGY OF UNEXPLAINED LATERAL CEREBRAL VENTRICULOMEGALY

We assayed fetal serum interferon‐alpha (IFNA), a cytokine produced by leukocytes as a response to viral infection, in a series of 59 consecutive cases of ventriculomegaly diagnosed in utero and in 89 controls. Results were correlated with other findings including karyotype, maternal–fetal screening for serum antibodies to specific infectious pathogens, viral cultures of amniotic fluid, and neuropathological examination or postnatal follow‐up. Fetal serum IFNA assay was negative in the five ventriculomegalies associated with a genetic anomaly and positive in the three cases with documented cytomegalovirus infections. In addition, fetal serum IFNA was detected significantly more often in the cases of ventriculomegaly with unexplained pathogenesis (15/51, 29·4 per cent) than in controls (1/89, 1·1 per cent). Detection of IFNA suggestive of viral infection in fetuses with otherwise unexplained ventriculomegaly underscores the need for more extensive viral screening in such cases.

Successful Treatment of a Severe Second Trimester Fetomaternal Hemorrhage by Repeated Fetal Intravascular Transfusions

Objective: It was the aim of this study to report a case of fetomaternal hemorrhage (FMH) that was successfully treated with fetal intravascular transfusions in which the middle cerebral artery peak systolic velocity (MCA-PSV) detected fetal anemia. Methods: A massive FMH occurred twice in a healthy 33-year-old pregnant woman at 26 and 29 weeks of gestation with no evident cause. Four repeated intravascular transfusions were performed. The MCA-PSV increased in the presence of anemia and decreased following correction of fetal hematocrit. Results: A healthy neonate was delivered at 33 weeks of gestation. Conclusion: MCA-PSV detected fetal anemia both before the first transfusion and following the next intravascular transfusions. In our case, the change in fetal blood viscosity following transfusion with adult blood did not affect the MCA-PSV value for detection of fetal anemia.

Prenatal diagnosis of zygosity by fetal DNA analysis, a contribution to the management of multiple pregnancies. A series of 31 cases.

Objective: To evaluate the contribution of prenatal diagnosis of zygosity by fetal DNA analysis to the management of multiple pregnancies. Methods: Between March 1999 and March 2000, 31 same-sex multiple pregnancies, were referred to our Institute during their second trimester to have amniocentesis done. Fetal DNA variants were studied in addition to karyotype. The main indications for amniocentesis were fetal growth discordance, fetal malformations or selective pregnancy termination. Zygosity results were compared to the first-trimester ultrasound diagnosis. Results: 21 out of the 31 multiple pregnancies were dizygous, and 10 out of the 31 pregnancies were monozygous. First-trimester ultrasound provided information on chorionicity only in 24 out of the 31 cases (77%). Of these 24 reports, 21 proved to be correct (87.5%). Moreover, in 2 cases among 14 pregnancies with growth discordance, DNA analysis ruled out a twin-to-twin transfusion syndrome, while ultrasound could not yield a conclusion. In 2 twin pregnancies with fetal malformations affecting one of the fetuses, DNA analysis made it possible to assess the risk for the other twin. In the 5 cases leading to selective termination, prenatal diagnosis of zygosity had a decisive value for the surviving fetus. Conclusion: Fetal DNA analysis is a simple and highly useful test for prenatal diagnosis of zygosity in the management of complicated multiple pregnancies.

The uses of ultrasonography in relation to foetal malformations in Rio de Janeiro, Brazil

The world-wide diffusion of prenatal ultrasound has encountered local historical, cultural and political particularities. The purpose of this article is to study the varied uses of this technology in cases of detection of a foetal anomaly, in Rio de Janeiro, in a context of generalized access to ultrasound, restrictive legislation on abortion and major social inequalities. An ethnographic approach was chosen combining from 2009 to 2011, observations of prenatal consultations and interviews with specialist physicians and pregnant women, in both public and private sector institutions. Analysis of the data allowed us to identify three ideal-typical moments in the trajectory of the pregnant women when a foetal malformation was detected. The first moment occurs before the detection of the anomaly, when an initial ultrasound is carried out, essentially in private centres. The standardized actions of pregnancy monitoring are performed in the background while practitioners use the technology to support the local culture of praise to motherhood and the family. The second ideal-typical moment shows how detection of an anomaly leads to fragmentation of the foetus at the public referral centre for foetal malformations. But far from depersonalizing the consultation, the formalism of the diagnostic procedure is considered by some professionals as a political lever to empower women from poor neighbourhoods as they acquire knowledge and comprehension of the situation despite their lack of decisional autonomy. During the third ideal-typical moment, professionals put the data produced by the image into the larger perspective of the logic of care: the focus is no longer on access to knowledge and autonomy, but on the joint collaboration of women and professionals towards solving the problems of everyday life. The combination of these three moments in time illustrates a process whereby the malformed foetus is humanised, dehumanised and re-humanised with respect to the technological tool.

Prenatal diagnosis: From policy to practice. Two distinct ways of managing prognostic uncertainty and anticipating disability in Brazil and in France

Prenatal diagnosis (PND) has gradually established itself as part of the pregnancy monitoring process, with a view to reducing the number of births of children exposed to disability by combining the use of biomedical tools with laws that authorise abortion in cases of foetal pathology. This article looks at how laws which vary from one country to another modulate the way in which PND practices are organised on a daily basis, determine the discourse of practitioners and lead them to adopt specific stances during prenatal consultations with couples coping with a foetal anomaly. We present a comparative ethnographic study, which took place between 2009 and 2011 in France and Brazil, in reference units, based on observation of consultations, professional meetings, and interviews with health practitioners. The fact that access to abortion due to foetal pathology is possible in France, and criminalised in Brazil, conditions how doctors analyse the framework of their medical practice and approach the issue of disability with couples during consultations. In France, practitioners would appear to be satisfied with a professional framework that they themselves created. Faced with prognostic uncertainty, the legal obligation to inform encourages them to discuss all of the potential complications of the diagnosed anomalies and leads them to provide probabilistic information about the life of the child to be, supported by evidence-based medicine. In Brazil, in the public service, the lack of access to abortion has created a malaise among practitioners who criticise this impediment to the objective nature of their practice and to the quality of the information that they provide. Some use prognostic uncertainty to direct the thoughts of women and couples towards the dynamics proper to each individual human trajectory within a given family and a specific social environment.