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F Daffos

Publications and source records attributed to F Daffos.

At least 19 recordsLinked to original sources
PubMed2003

Perinatal-lethal Gaucher disease.

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.

DNA Mutational Analysis↗
PubMed2003

[Foetal sampling techniques].

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.

Amniocentesis↗
PubMed2001

Perinatal management of fetal cardiac anomalies in a specialized obstetric-pediatrics center.

Perinatal teams dealing with fetal heart disease frequently wonder which pregnancies might be terminated, and when delivery should take place in a specialized surrounding. We present a retrospective study of 229 fetuses, in which prenatal ultrasound showed a cardiac anomaly not compatible with a standard maternity ward delivery. One hundred nineteen pregnancies were terminated (group I) while 110 pregnancies led to the birth of a live baby (group II). Pathology in group I was discovered earlier than in group II (24 vs. 29.3 weeks' gestation; p <0.01), and associated malformations or chromosomal anomalies were much more frequent in group I (80/119 vs. 9/110; p <0.001). Among live born babies, three infants with transposition of the great arteries underwent Rashkind atrioseptostomy in the delivery room. With a minimum follow-up of 12 months, 69 children (63%) have undergone surgery. Among 92 survivors (1 child is lost to follow-up), 78 (71%) are asymptomatic and 14 symptomatic. Early prenatal diagnosis of fetal heart anomalies significantly facilitates prenatal work-up and perinatal care. We present the types of pathology having led to termination and define the situations in which children are at risk of perinatal hemodynamic compromise.

Abortion, Eugenic↗
PubMed2000

[Medical termination of pregnancy for fetal anomaly: the patient's point of view].

OBJECTIVES: To analyze the patient's point of view concerning pregnancy termination for fetal anomaly. METHODS: A questionnaire concerning the different steps of medical termination of pregnancy was given to 103 women on day 2 after termination. RESULTS: 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. CONCLUSION: 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.

Abortifacient Agents↗
PubMed1999

Haematological parameters of parvovirus B19 infection in 13 fetuses with hydrops foetalis.

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.

Anemia↗
PubMed1999

High levels of circulating thrombomodulin in human foetuses and children.

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.

Adolescent↗
PubMed1998

Serum C24 bile acids in the developing human fetus.

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.

Alkaline Phosphatase↗
PubMed1998

[Intrahepatic arteriovenous fistula. Prenatal diagnosis, physiopathological study and neonatal management]l.

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.

Adult↗
PubMed1997

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.

Amniotic Fluid↗
PubMed1996

Fetal gammaglutamyl transferase activity: clinical implication in fetal medicine.

In a retrospective study of 3,129 fetal blood samples, we first determined normal values for gammaglutamyl transferase (GGT) activity and found 33 cases with a mean GGT level of 961.8 U/l (prevalence 1.05%) corresponding to more than 10-fold normal values. In such extreme cases, elevations of GGT activity in fetal blood have been poorly studied. The goal of this work was to correlate this highly abnormal biological finding with pathological fetal conditions and try to better understand the pathophysiological mechanisms. The most frequent underlying disorders were infections (n = 11), renal or bowel malformations (n = 12) and genetic abnormalities (n = 5). Two cases of cystic fibrosis and one case of fetal alcohol syndrome were also encountered. In another 2 cases, no explanation was found.

Chromosome Aberrations↗
PubMed1995

[Prenatal diagnosis of fetal varicella in the second trimester of pregnancy].

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.

Acyclovir↗
PubMed1994

Prenatal diagnosis of congenital toxoplasmosis with a polymerase-chain-reaction test on amniotic fluid.

BACKGROUND: Congenital infection with Toxoplasma gondii can produce serious sequelae. However, there is little consensus about screening during pregnancy, and the tests used to establish a prenatal diagnosis of toxoplasmosis are complex and slow. We evaluated a simpler approach that is based on a polymerase-chain-reaction (PCR) test. METHODS: Prenatal diagnostic tests, including ultrasonography, amniocentesis, and fetal-blood sampling, were performed in 2632 women with T. gondii infection acquired during pregnancy. In 339 consecutive women, a competitive PCR test for T. gondii was performed on amniotic fluid, and its results were compared with those of conventional diagnostic tests. The PCR test targets the B1 gene of T. gondii, uses an internal control, and can be completed in a day. Positive tests were confirmed by serologic testing of newborns or by autopsy in terminated pregnancies. RESULTS: Overall, the risk of fetal infection was 7.4 percent, but it increased sharply with gestational age. Congenital infection was demonstrated in 34 of 339 fetuses by conventional methods, and the PCR test was positive in all 34. In three other fetuses, only the PCR test gave positive results, and follow-up testing confirmed the presence of congenital toxoplasmosis. The PCR test gave one false negative result but no false positive results. The PCR test performed better than conventional parasitologic methods (sensitivity, 97.4 vs. 89.5 percent; negative predictive value, 99.7 vs. 98.7 percent). CONCLUSIONS: For the prenatal diagnosis of congenital T. gondii infection, an approach based on a PCR test performed on amniotic fluid is rapid, safe, and accurate.

Amniotic Fluid↗
PubMed1994

Fetal thrombocytopenia: a retrospective survey of 5,194 fetal blood samplings.

Fetal platelet counts were retrospectively studied in a series of 5,194 consecutive fetal blood samplings (FBS). The mean value was 245 +/- 65 x 10(9)/L, without significant variation between 17 and 41 weeks' gestation. After exclusion of false thrombocytopenia due to contamination with amniotic fluid, 247 fetuses had platelet counts less than 150 x 10(9)/L. In 70 cases, thrombocytopenia was due to congenital infectious diseases (toxoplasmosis, rubella, and cytomegalovirus). It was related to immune causes in 45 cases: anti-HPA-1a (n = 23), anti-HPA-5b (n = 2) or possible anti-HLA (n = 2) alloimmunizations, and immune thrombocytopenic purpura (n = 18). Chromosomal abnormality was the etiology in 43 cases (trisomy 13, 18, and 21, Turner's syndrome, triploidy), and other disorders (multiple birth defects, intrauterine growth retardation, rhesus disease, and gestational thrombocytopenia) in 62 cases. No specific cause for the low platelet count could be established in 27 fetuses (range, 115 to 149 x 10(9)/L). Severe thrombocytopenia (< or = 50 x 10(9)/L) occurred mainly in immune cases (16%), congenital infectious diseases (7%), and chromosomal abnormalities (1%). Diagnosis, prognosis, and management of fetal thrombocytopenia are presented in the different clinical situations. In this series, FBS was never associated with serious bleeding, and no fetal exsanguination was observed.

Chromosome Aberrations↗