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PubMed1985

[Fetal sinusoidal cardiac rhythm].

The authors describe a case of fetal sinusoidal cardiac rhythm which was observed during a feto-maternal transfusion. This type of cardiographic tracing is found similarly in certain cases of severe fetal anaemia or of isolated fetal hypoxia. It is also found in amnionitis and associated with various iatrogenic factors such as the administration of general anaesthesia and fetoscopy. The literature does not show a consensus when trying to find the criteria for defining this type of rhythm. The aetiology of the pathological condition is much in dispute. The prognosis does not have to be all that serious. In conclusion, the authors suggest the attitude of management to lessen the poor prognosis of these sinusoidal rhythms and help towards a favourable outcome.

Arrhythmia, Sinus↗
PubMed1985

Prenatal diagnosis. A preliminary study of first-trimester chorionic villous biopsy.

Biopsy of the developing placenta before the thirteenth gestational week was performed by transcervical cannula aspiration guided by real-time ultrasound in 21 consecutive patients. Chorionic villi were obtained in 20 patients and chromosomal analysis was possible in 19. One significant complication occurred: perforation of one gestational sac in the only patient in the series with a twin pregnancy. More studies are required in order to provide an adequate assessment of the risk--of fetal loss, culture failure and trophoblastic chromosomal abnormalities not representative of the mature fetus--associated with the technique. In practised hands, the procedure may provide a preferable and safe alternative to amino-centesis and fetoscopy for the prenatal diagnosis of genetic defects.

Biopsy↗
PubMed1985

[Exclusion prenatal diagnosis of chronic familial septic granulomatosis].

We report the prenatal diagnosis in a 20 week male fetus at risk of chronic granulomatous disease (CGD). A previous affected brother was known in the family and the mother was detected as heterozygote. Three different assays were performed on fetal blood obtained under fetoscopy: cytochemical reduction of nitroblue tetrazolium (NBT), chemiluminescence after activation by opsonized zymosan or phorbol myristate acetate (PMA) and production of superoxide anion (O2-.). Results were comparable to those obtained in 6 fetuses investigated for other inherited diseases. Absence of functional polymorphonuclear defects was confirmed at birth. The use of 3 different techniques performed on whole blood for prenatal diagnosis of CGD has to be recommended instead of an isolated technique adapted to whole blood tests.

Female↗
PubMed1985

[Prenatal diagnosis of severe hereditary immunologic deficiencies].

The recent progress in antenatal diagnosis methods led us to develop the antenatal diagnosis of several forms of hereditary and severe immune deficiencies (ID): severe combined ID (13 cases), combined ID associated with a defective expression of HLA (2 cases), X-linked agammaglobulinemia (4 cases), chronic granulomatous disease (1 case). Antenatal diagnosis was performed by studying by micromethods lymphocyte markers and functions in fetal venous blood samples obtained under foetoscopy (20 cases) or echography (1 case). Cytological studies were coupled with microscopical examination of the skin and the hair of a foetus at risk for a Chediak-Higashi disease. These methods allowed the continuation of the pregnancy in 16 cases. Thirteen neonates were normal and two pregnancies go on. In one case, the diagnosis of the integrity of the immune system led to the birth of a child suffering from a severe combined ID not yet described. This child was cured with a HLA semi-identical bone-marrow transplantation. An abortion was proposed for two fetuses affected with severe combined ID which was confirmed by histological examination. Two accidental abortions occurred, one of them probably as a consequence of the fetoscopy.

Female↗
PubMedDate not supplied

Antenatal diagnosis of genetic disease.

During the past decade, a vast methodology has been developed for the study and antenatal diagnosis of genetic disorders. The cytogenetic antenatal diagnosis of chromosome abnormalities is possible through the application of new methods for chromosome visualization in cultured amniotic fluid cells. A variety of inborn errors of metabolism may be diagnosed prenatally by the study of amniotic fluid, amniotic fluid cells and cultivated fibroblasts from this biologic fluid. Additionally, morphologic malformations such as neural tube defects and fetal catastrophies may be diagnosed during gestation by the study of alpha fetoprotein and beta trace protein levels. In the past few years, the application of methods for the visualization of the intrauterine fetus has been made possible by the use of techniques such as sonography, contrast radiography and fetoscopy.

Amniocentesis↗
PubMedDate not supplied

Prenatal diagnosis of thalassemias and hemoglobinopathies.

Thalassemia syndromes and hemoglobinopathies are of clinical genetic significance because of the severity of the sequelae associated with particular genetic constitutions in these conditions, their occurrence at high frequencies in certain populations of Mediterranean, African, and Asian origin, and the high frequency of recurrence in pregnancies of at risk families. Application of recently developed techniques of molecular genetics to the antenatal diagnosis of the most deleterious of these conditions (homozygous beta-thalassemia [Cooley's anemia], homozygous alpha-thalassemia [Barts hydrops fetalis], sickle cell anemia, and related severe homoglobinopathies) now affords parents the option to interrupt a pregnancy in which the fetus has the genetic constitution causing one of these abnormalities. The two different analytical strategies utilize fetal cells obtained by aminocentesis. In one, fetal blood is obtained either by sonographically guided placental aspiration or by aspiration from a placental vein directed by fetoscopy. Globin chain synthesis is monitored by the incorporation of radiolabelled amino acids in the isolated erythrocytes and the determination of the ratio of radioactive label incorporated into the various globin chains separated by column chromatography or electrophoresis. This technique is applicable to the antenatal diagnosis of alpha-and beta-thalassemia and to selected hemoglobinopathies. However, in the most experienced centers, fetal blood sampling is associated with a greatly increased risk of fetal loss. The other analytical approach utilizes desoxyribonucleic acid (DNA) isolated from fibroblasts to evaluate the presence of quantitatively and/or qualitatively normal DNA sequences, which constitute the structural gene(s) encoding specific globin polypeptide chains. This approach is most generally applicable to the detection of structural gene deletions as in a alpha-thalassemia; maternal and fetal risk is the same as that for conventional amniocentesis.

Amniotic Fluid↗
PubMed1982

Antenatal diagnosis of sickle cell disease: amniotic fluid cell DNA analysis.

Using recombinant DNA methods and amniocentesis, the antenatal diagnosis of sickle cell disorders can be accomplished. This article presents the authors' experiences with 21 pregnancies at risk using HpaI and Hind III restriction enzyme digestions of adult leukocytic and fetal amniotic fluid cell DNA. The authors were able to establish direct beta A- and beta S-globin gene linkages to the restricted fragments in 9 families. In 8 families no direct linkages could be determined and estimates of exclusion of fetal beta S homozygosity were used. These estimates were made on the basis of the frequencies of association of the HpaI fragments with the beta S and beta A genes in the Afro-American population. In 4 families, no estimates or linkages could be established, and the patients were counseled in reference to fetoscopy. The data also indicated the frequencies of association of the HpaI fragments with the beta A and beta S gene in the New Jersey-New York population. These studies did not seem to indicate any exclusive preferential segregation of the HpaI and Hind III polymorphisms.

Amniotic Fluid↗
PubMed1983

Prenatal diagnosis of genetic disorders.

One of the most significant advances in medicine is the development of prenatal diagnosis. In many circumstances it is now possible for the physician to learn definitively whether or not a fetus has a given genetic disorder. If the fetus is found to be affected, the couple may elect termination of the pregnancy. The most widely used technique for prenatal diagnosis is midtrimester amniocentesis, which permits chromosomal or enzymatic studies of amniotic liquor and cultured amniotic fluid cells. Recent advances in DNA analysis of amniotic fluid cells have opened new vistas for the antenatal detection of hemoglobinopathies, and potentially, for other genetic disorders. Advances in ultrasonography have not only made amniocentesis safe and more reliable, but have also offered new opportunities for the detection of certain defects. Finally, in addition to allowing direct fetal visualization, fetoscopy has permitted access to fetal tissues (e.g., blood, skin), thereby making feasible the diagnosis of disorders not otherwise detectable.

Abortion, Habitual↗
PubMed1980

Development of cell-mediated lympholysis in human foetal blood lymphocytes.

White cells from pure foetal blood obtained by fetoscopy, or from the cord at birth, were sensitized in mixed lymphocyte culture with irradiated adult peripheral blood lymphocytes. After 6-8 days of culture they were assayed in a standard 4-hr 51Cr-release cytotoxicity assay (CML) using lymphoblastoid cell targets from the stimulator cell donor. The age of the foetuses ranged from 15-22 weeks of gestation. Third-party target cells and adult blood served as controls. The mean cytotoxic responses of cord (11 donors) and adult (10 donors) blood lymphocytes were not significantly different and had similar kinetics. Foetal lymphocytes (25 donors) displayed a wide range of reactivity with half, scattered throughout the age range, totally negative and a further 23% with marginal responses. Definite cytotoxicity was found in the remainder, but not before the 18th week; these responses were evenly distributed in the range 18-22 weeks. Third-party responses were never more than one-quarter of the specific cytotoxicity. It was shown that the negative and very weak responses were almost certainly not due to technical factors. It is concluded that the majority of human foetuses in the range 15-22 weeks, though capable of giving clear mixed lymphocyte reactions, cannot develop full effector function as measured by the CML assay.

Adult↗
PubMedDate not supplied

[Prenatal diagnosis of hemoglobinopathies in the 1st and 2nd pregnancy trimesters].

Fetal diagnosis of haemoglobinopathies, mainly thalassaemia, is widely used for the prevention of these diseases. Since 1975 fetal diagnosis has been carried out in the second trimester of pregnancy (18th - 22th week) on fetal blood samples obtained by fetoscopy or placentocentesis. The biochemical technique most commonly employed has been represented by carboxymethylcellulose chromatography and more recently in our center by isoelectric focusing of haemoglobins which is a faster and cheaper technique. First-trimester fetal diagnosis is now feasible by DNA analysis on chorionic villi. The Milan center experience in second trimester fetal diagnosis of haemoglobinopathies on more than 300 cases and the preliminary data on first trimester diagnosis are reported.

Blood Specimen Collection↗
PubMed1984

Prenatal diagnosis of three cases of severe combined immunodeficiency: severe T cell deficiency during the first half of gestation in fetuses with adenosine deaminase deficiency.

The prenatal diagnosis of severe combined immunodeficiency (SCID) was made in three fetuses by staining fetal blood obtained at fetoscopy with a panel of monoclonal antibodies. There were less than 100 T cells/mm3 of fetal blood in these three cases compared to 2,500/mm3 in 14 immunologically normal fetuses. Cells bearing the cortical thymocyte antigen (NA1/34) were not detected in any of the normal or affected fetal blood samples. Two of the affected fetuses were also homozygous for a deficiency of adenosine deaminase (ADA) with undetectable levels of red cell ADA. All three affected fetuses were aborted and postmortem tissue was obtained in two cases. In both of these cases the thymus was markedly hypoplastic and contained no lymphoid cells. One of these fetuses was homozygous for ADA deficiency and the virtual absence of T cells or thymocytes during the second trimester of pregnancy indicates that placental access to the maternal circulation does not prevent damage to the T lineage stem cells in this disease. Prenatal diagnosis of SCID has previously only been possible in patients with a defined metabolic defect such as ADA deficiency, but these studies indicate that prenatal diagnosis now may be offered for most at risk pregnancies.

Adenosine Deaminase↗
PubMed1982

Transfer of tissue cells to the fetus.

Several diseases of the fetus can be diagnosed prenatally. Some of them are due to insufficient production of a specific substance. It was therefore thought that, with the aid of fetoscopy, it might be possible to supply such an affected fetus with cells capable of producing the deficient substance. To ascertain whether tissue cells injected into the feto-placental circulation can pass through the microcapillaries of the placenta as early as in the second trimester, 125I-labelled cells of fetal liver were injected into an umbilical vessel ex utero after therapeutic abortion by hysterotomy. The distribution pattern of the radioactivity indicated that donor cells passed through the microcapillaries of the placenta and reached the target, i.e., the liver. In each experiment, the activity in the liver was higher than that in other organs studied. The activity in the brain and in the lungs was low. Transfer of tissue cells from a normal fetus to the circulation of an affected fetus in utero thus seems feasible. Permanent colonization of such cells would be facilitated by the fact that the donor as well as the recipient are fetuses of the second trimester and thus immunologically immature.

Blood↗
PubMed1980

Factor VIII coagulant antigen in hemophilic plasma: a comparison of five alloantibodies.

Five independent alloantibodies directed to factor VIII coagulant antigen (VIII:CAg) were assessed against normal, von Willebrand's disease, and severe hemophilia A plasmas. Immunoradiometric assays (IRMAs) were developed for each antibody, one of which had arisen "spontaneously" and four in transfused hemophiliacs. The correlations between assays were very high for normal, vWd, and both CRM+ and CRM- hemophiliacs. This suggests that IRMAs maybe developed from almost any reasonably high titered alloantibody and used with confidence in diagnosing CRM- hemophilia A in utero by fetoscopy.

Antibody Specificity↗
PubMed1982

Studies of circulating hemopoietic progenitor cells in human fetal blood.

High levels of committed erythroid and granulocytic/monocytic progenitor cells have been demonstrated in fresh blood obtained at fetoscopy. The fetal progenitor cells were more sensitive to appropriate stimuli (erythropoietin and colony-stimulating factor) than adult progenitor cells grown under the same conditions, and this was shown to be due to intrinsic differences in the progenitor cells at the different developmental stages.

Adult↗
PubMed1982

[Genetic counseling for dermatologic patients].

Many genetic and environmental influences focus on the skin, thus producing a high frequency of multifactorial diseases in this organ (genetic disposition together with exogenous force leading to manifestation) [2]. Genetic advice must be comprehensive, i.e., include aspects of diagnosis, prognosis, preventive and therapeutic management and psychological guidance of affected families. Ideally it should be given by the genetically trained dermatologist or family doctor. Pedigree analysis combined with clinical, morphological, biochemical and immunological methodology are employed to reach a diagnosis. Consideration must be given to the heterogeneity of many diseases with predominantly or partially genetic background. Here genetic analysis can help to identify clinically overlapping entities. HLA-typing contributes to identify individuals at risk in an increasing number of conditions, for instance in psoriasis. Prenatal diagnosis by fetoscopy has been accomplished in congenital ichthyosis and hereditary bullous epidermolysis. According to a rule of thumb rare conditions (monogenic, chromosomal) with a tendency to syndromic manifestation may carry a high risk of recurrence, up to over 50%, while the common diseases of multifactorial origin with usually single-organ-manifestation (here skin and/or mucous membranes) justify a more optimistical approach. Recurrence occurs in less than 10%. Disorders of fertility call for karyotype analysis in order to exclude balanced aberrations with the potential of severely malformed offspring.

Female↗
PubMed1982

Genetic counselling in holoprosencephaly.

According to the etiological factors the various possibilities of genetic counselling in holoprosencephaly are discussed. In each type of holoprosencephaly a chromosomal analysis is indispensable. Prenatal chromosomal examination of subsequent pregnancies is indicated when dealing with a chromosomal aberration. Fetoscopy is useful under certain conditions. In addition, because of possibly associated neural tube defects, alpha 1-fetoprotein should be determined.

Abnormalities, Multiple↗
PubMed1981

Reversed-phase high pressure liquid chromatography of globin chains: its application for the prenatal diagnosis of beta-thalassemia.

The separation of alpha, beta, G gamma and A gamma globin chains by reversed phase high pressure liquid chromatography has been studied using columns of octadecylsilyl-silica. All separations were performed in solvent mixtures of water and acetonitrile acidified with phosphoric acid or the hydrophobic ionpairing reagent trifluoroacetic acid. The addition of trifluoroacetic acid or the chaotropic agent NaClO4 to the mobile phase increased the resolution and the peak sharpness of the eluted globin chains. The use of decreasing gradients of TFA or NaClO4 and chromatography at 40 degree were useful steps for the separation of alpha and beta globin chains, a prerequisite for the successful application of this method for the prenatal diagnosis of beta-thalassemia. The beta/gamma synthetic ratio obtained from blood samples taken by fetoscopy from normal fetuses and fetuses with beta-thalassemia trait were measured simultaneously by CM-cellulose chromatography and high pressure liquid chromatography. The values obtained by HPLC were very similar but slightly lower than those obtained by CM-cellulose chromatography. The new method is fast and accurate and will prove to be useful for prenatal diagnosis involving globin chain separation.

Chromatography, High Pressure Liquid↗
PubMed1980

[Prenatal diagnosis of upper limb malformations].

Three children with thrombopenia and radial aplasia were examined at the Centre de Génétique Médicale of Marsielles from 1974 to 1976. In each case the genetic basis of the anomaly was discussed with the family at genetic counseling underlining the high risk of recurrence related to the autosomal recessive transmission. Each proband was the only child of the couple. In the first case the father and mother, each having one child from a previous marriage, decided to have no more children. In the second case, the use of fetoscopy and its limitations were discussed as another pregnancy was desired. However, the parents finally refused the procedure during pregnancy which yielded a second child with phocomelia who did not survive. In the third and most recent case the proband died. Since the young couple strongly desired another child, ultrasonic monitoring of pregnancy was cautiously suggested and its limitations clearly exposed. Echography was regularly repeated from the third month of pregnancy. The forearms were never detected on echography, nor on fetal radiography. Pregnancy was thus interrupted with prostaglandins at 21 weeks gestational age. On examination the fetus presented bilateral aplasia of the forearm. Based on these observations, the authors discuss the problems raised by prenatal diagnosis of upper limb malformations.

Ectromelia↗