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At least 289 records · Page 16Linked to original sources
PubMed1990

[Prenatal diagnosis of Duchenne muscular dystrophy by fetoscopic muscle biopsy. Report of a case].

A needle muscle biopsy through a fetoscope for the antenatal diagnosis of Duchenne muscular dystrophy (DMD) was reported the mother was a carrier of 30 years old with a family history of Duchenne muscular dystrophy. Her brother died of DMD and her son had suffering from DMD. At 17 weeks of her second gestation, an amniotic puncture was performed. The cellular chromosome was found to be a male fetus (46,xy). At 20 weeks of her gestation, a needle muscle biopsy of the male fetus was performed under fetoscopy and turned out to be Duchenne muscular dystrophy. At 23 weeks, a male fetus was born with induced labor. The pre and postnatal muscles were examined under the light and electron--microscopes. The large hyaline round fibres were positive for calcium. There was evidence of a break down of the basement membranes, appearance of A and I bands and fragmentation of Z bands. Myofibrils were replaced by thin filaments. The diagnosis of Duchenne muscular dystrophy was established on the basic of these findings. This was considered the first case of antenatal fetal Duchenne muscular dystrophy diagnosed with the aid of fetoscope and needle muscle biopsy.

Abortion, Induced↗
PubMed1986

Fetal blood velocities in Rh isoimmunization: relationship to gestational age and to fetal hematocrit.

Doppler blood cell velocities were measured in the aortas, inferior vena cavas, and umbilical veins of fetuses from isoimmunized pregnancies and related to the hematocrit levels of the fetal blood determined at fetoscopy. Pourcelot Index of flow in the umbilical artery was similarly studied. The mean velocities in the descending aortas and the Pourcelot Indexes of the umbilical arteries of both normal and affected fetuses correlated with fetal age. These velocities and indexes of affected fetuses also correlated inversely with the fetal hematocrit levels independently of the correlation with fetal age. The affected fetuses had higher mean velocities in the aorta and in the inferior vena cava than did normal fetuses. A simple model of multiple regression predicted the fetal hematocrit levels with a mean error of 3.8 hematocrit units (volume %).

Blood Flow Velocity↗
PubMed1986

Blood gases and acid-base status of the human second-trimester fetus.

Maternal arterial, umbilical venous, and umbilical arterial blood were obtained at fetoscopy in the second trimester and analyzed for blood gases and acid-base indexes. In comparing umbilical venous (N = 31) with maternal arterial (N = 39) samples, the mean (+/- SD) PO2 was lower (55 +/- 7 versus 100 +/- 15 mmHg, P less than .001) and PCO2 (37 +/- 4 versus 34 +/- 4 mmHg), bicarbonate (20 +/- 2.0 versus 18.5 +/- 1.5 mmol/L), lactate (1.10 +/- 0.25 versus 0.80 +/- 0.30 mmol/L), and base excess (-4.2 +/- 2.3 versus -6.0 +/- 1.5 mmol/L) were higher (P less than .001). The mean umbilical venous pH did not differ significantly from the maternal arterial (7.358 +/- 0.040 versus 7.373 +/- 0.035). Comparing umbilical arterial (N = 21) with umbilical venous (N = 31) samples, the PO2 level was lower (34 +/- 4 versus 55 +/- 7 mmHg, P less than .001) and PCO2 higher (42 +/- 4 verus 37 +/- 4 mmHg, (P less than .001); the pH was marginally lower (7.339 +/- 0.03 versus 7.358 +/- 0.040; P less than .05) and bicarbonate higher (22 +/- 1.5 versus 20 +/- 2.0 mmol/L, P less than .001). Umbilical arterial and umbilical venous values were similar in the case of lactate and base excess.

Acid-Base Equilibrium↗
PubMedDate not supplied

Serological study of rubella in pregnancy: two years of experience in Palermo (1984-1986).

A serological survey was carried out by means of an ELISA capture-immunoassay for IgM and by means of the haemagglutino-inhibition method or ELISA for IgG antibodies on 715 women in fertile age and on 12 patients suffering from rubella or rubella-like syndrome. Fetal serum samples were obtained at fetoscopy from 4 pregnant women at different gestational age. The overall results show that although the high percentage (greater than 80.0%) of anti-rubella positive women in fertile age in our country, 18 out of 54 women in pregnancy, having had contacts with people affected by rubella or rubella-like syndrome, showed a seroconversion for rubella virus. The outcome of the pregnancy in these patients is known for 11 cases only: six women decided for abortion, four had a normal baby and one, mother of twins, bore an apparently healthy child the other one being dead 4 hrs after the delivery owing to fetal respiratory distress. Conclude this study some considerations on the necessity to emphasize the opportunity for a mass vaccination program and on the importance for more than one serological test to discriminate among different rubella-like syndromes.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of genetic diseases.

The prenatal diagnosis of genetic disorders has become one of the most important tools in medical genetics and has changed the face of genetic counseling. Over 100 inherited metabolic diseases, all chromosomal abnormalities and a number of major congenital malformations can already be diagnosed at relatively early stages of fetal development. Various techniques at different stages of pregnancy are presently available. The earliest procedure, using chorionic villus biopsies, can be performed at approximately 8 weeks of gestation; however, the safety and efficacy of this method are not clear. Amniocentesis is performed at 16 weeks of gestation, and analyses of amniotic fluid and amniocytes are still the most commonly used diagnostic procedures to detect genetic disorders in the fetus. Moreover, real-time ultrasonography and fetoscopy permit the detection of a large number of fetal structural abnormalities in the second trimester of pregnancy through fetal blood samples, fetal skin biopsies, and observation of the fetal external anatomy.

Amniocentesis↗
PubMedDate not supplied

[Contact embryoscopy (author's transl)].

Prenatal diagnosis based on anatomic definition of the fetus in utero is an difficult task, in the first trimester of pregnancy. The authors have recently introduced a new method : contact embryoscopy which consist in applying the optic piece of a contact hysteroscope (diameter of six millemeters) to the intact and translucent ovular membranes by the cervix. They have performed fifty embryoscopy prior to termination of pregnancy at 8 to 12 weeks. In 41 cases, they have seen the hands of fetus with the fingers. If this technic fails, it is possible, later, to use Echography and fetoscopy. The side-effects are discussed. Contact embryoscopy would be particularly useful in the detection of malformations of the extremities, for instance : chondro-ectodermal dysplasia (Ellis Van Creveld Syndrome) or ectrodactily.

Female↗
PubMed1979

Prenatal diagnosis of the hemoglobinopathies: ethical issues.

Prenatal diagnosis of the hemoglobinopathies has been increasingly reported. This article discusses those ethical issues stemming from pregnancy studies by fetoscopy or placental aspiration: diagnostic accuracy and safety for mother and fetus, abortion of the fetus diagnosed as homozygous for thalassemia or sickle cell diseases, and access to prenatal diagnosis for those who cannot afford it. The author's position on these issues attempts to mediate between the poles in current ethical debate on abortion in public policy.

Abortion, Therapeutic↗
PubMed1981

In utero diagnosis and treatment of non-human primate fetal skeletal anomalies. I. Hydrocephalus.

We describe the antenatal diagnosis and intrauterine treatment of hydrocephalus induced (corticosteroid teratism) in fetal rhesus monkeys. Diagnostic techniques included (1) maternal serum alpha-fetoprotein (AFP) measurement, (2) ultrasonography of the fetal ventricular system, (3) roentgenography, and (4) fetoscopy. After measuring excessive intracranial CSF pressures in hydrocephalic fetuses, an indwelling prosthetic valve was devised--the hydrocephalic antenatal vent for intrauterine treatment (HAVIT). The HAVIT was surgically implanted in the fetal skull so that when CSF pressures exceeded 60 mm H2O, the ports opened to vent CSF from the fetal ventricular system into the amniotic fluid. Whereas unaided hydrocephalic neonates seldom survived more than ten to 14 days, manifesting progressive muscular weakness and frequent seizures, fetal monkeys receiving the HAVIT demonstrated markedly superior postnatal development of motor skills and weight gain. Although additional laboratory studies are indicated, ultimately, clinical investigations combining early diagnosis and in utero insertion of the HAVIT or similar prosthesis may significantly enhance the prognosis of children in whom severe antenatal hydrocephalus develops.

Animals↗
PubMed1982

[Applications and limits of prenatal diagnosis (author's transl)].

By means of antenatal diagnosis mainly chromosome aberrations, malformations and inborn errors of metabolism may be recorded. At present there exist four ways for gaining information on the fetus in a pregnant woman: analysis of the amniotic fluid after amniocentesis, fetoscopy, ultrasound diagnosis and analysis of the maternal serum. Prenatal diagnosis becomes necessary in pregnancies where a child suffering from a severe illness or malformation is to be expected. Only if the disorder can be diagnosed by antenatal diagnosis and its severity justifies abortion prenatal diagnosis is to be carried out. Most cases transferred to antenatal diagnosis are pregnancies of women in advanced age because of the increasing risk of carrying a child with Down's syndrome. Another important group is formed by pregnant women with a previous child with Down's syndrome or another chromosomal disorder.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of sickle cell anemia and beta-thalassemia by amniocentesis.

Prenatal diagnosis by amniocentesis alone is possible for about 90% of pregnancies at risk for sickle cell anemia and about 70-75% of pregnancies at risk for beta-thalassemia. It should be stressed that to obtain these percentages, a previous homozygous normal or affected child or, alternatively, the couple's parents are needed to confirm the linkage of variant genes to respective DNA markers (polymorphic restriction sites). Families at risk should be studied prior to or early in pregnancy to determine whether these methods will be applicable to their specific case. If appropriate markers are identified and their linkage to the genes being studied is verified, then prenatal diagnosis by amniocentesis can be done at 16-18 weeks; and for these couples, fetoscopy, with its increased risk of fetal loss, can be avoided. The change of errors in diagnosis due to crossing-over between the mutant gene and the linked marker is small. The probability of such a recombination between the beta-globin gene and the polymorphic G gamma Hind III or the 3' Hpa I site is 1/3,000 and 1/14,000 per generation, respectively (13). A more serious problem is non-paternity because of the errors caused in linkage analysis. Improved methods to enable direct detection of the beta S and/or beta thal mutations would remove both of these potential sources of error.

Amniocentesis↗
PubMed1983

Prevention of thalassemia.

Prevention of thalassemia and hemoglobinopathies is the only solution to efficiently reduce the huge medical, social and economic impact of these diseases in countries where they occur in high frequencies. In Greece, a serious effort has been undertaken towards this goal over the last years. Prevention is carried out at various levels: ample public education, easy provision of the necessary laboratory tests for carrier identification and thorough counseling of the couples at risk. Availability of prenatal diagnosis has contributed significantly to the acceptance by the public of various screening programmes. To date, the experience of the Greek group for prenatal diagnosis totals 1088 cases (June 1977 to December 1982). The number of couples at risk seeking the test prior to having any children is steadily increasing (prospective counseling). The efficacy of the overall prevention programme in Greece is reflected by the fact that the number of babies with thalassemia major admitted for transfusion to the major Units of the country has decreased substantially in the last years. Routine method used for prenatal diagnosis is biosynthesis of hemoglobin in samples of placental blood drawn by fetoscopy. With increasing experience the procedure now is safe (less than 1% of obstetrical complications in the last year) and the prediction accurate (no false diagnoses in the recent years). However, it is anticipated that the conventional method will soon be replaced by studies of amniotic cell DNA, a procedure both safer and less traumatic, or by studies of trophoblast DNA, which will allow prenatal diagnosis at an earlier stage of pregnancy.

Amniocentesis↗
PubMed1983

[Prenatal diagnosis of a harlequin fetus using electron microscopy].

We have diagnosed a Harlequin fetus at 22 weeks' gestation. Harlequin syndrome is a fatal, congenital disorder of keratinization whose biochemical basis is unknown. The parents were second cousins and had had four children, two with the Harlequin syndrome who had died at birth and two normal children. During the fifth pregnancy the parents asked us to find out if the fetus was affected. Multiple skin biopsies were done by fetoscopy during the 22nd week of gestation. On binocular loupe examination the skin appeared thickened and fragile to the touch; light and electron microscopy revealed a remarkably thickened stratum corneum with involvement of both follicular and interfollicular epidermis, a feature characteristic of a Harlequin fetus at term. The pregnancy was terminated in the 24th week of gestation: the fetus had all the characteristic clinical features of Harlequin fetus.

Abnormalities, Multiple↗
PubMed1984

Antenatal diagnosis of haemoglobinopathies by improved method of isoelectric focusing of haemoglobins.

An improved method of isoelectric focusing (IEF) of haemoglobins, utilizing a spacer molecule to increase the separation between HbA and acetylated HbF, was carried out in parallel with carboxymethylcellulose (CMC) chromatography in 85 antenatal diagnoses for haemoglobinopathies (mainly thalassaemia). In 19 of 21 affected fetuses no HbA band was detectable on IEF while in two a very faint band was observed; in heterozygotes or normal fetuses a more obvious HbA band was present. Moreover, IEF was useful for the demonstration of HbLepore in two cases at risk for beta-thalassaemia/ HbLepore and for interpreting a radioactive pre-beta globin peak on CMC chromatography. Pure fetal blood is needed for IEF. It can therefore be used for most cases in centres using fetoscopy for fetal blood sampling. About 80% of antenatal diagnosis of haemoglobinopathies may be carried out by IEF which is a very simple, rapid and inexpensive method.

Female↗
PubMed1981

[Genetic questions of hemophilia].

Haemophilia A and B are X-chromosomally recessively inherited. In the GDR the frequency of these genuine haemophilias is 1 to 6,500 male births. The frequency of sporadic haemophilias is still in dispute and certainly depends on the intensity of genealogic examinations. The mutation rate for haemophilia A is estimated to 1.3 to 3.6 x 10(-5). In secure female conductors the lyonisation evokes a considerable dispersion of the factor VIII coagulation activity, wherefore this is able to prove also only a small proportion, about 20-50%. The lyonisation apparently takes place in a critical anlage of less than 32 cells. Bleeding female conductors are in the first place the sequel of extreme lyonisation, more infrequently homozygotes or such ones with anomalies of the X-chromosomes. The state of female conductors is best characterized by th discrepancy between decreased factor VIII coagulation activity and the normal factor VIII associated antigen. At present numerous variants of this female conductor test are used, particularly concerning its calculatory evaluation. In many places only quotients from the two parameters are formed. Discriminancy-analytical methods brings without doubt better results. They allow to coordinate a certain probability to each result, which with the help of genealogic criteria may be combined to an evidence. Immunochemical determinations of the factor IX are certainly not of value for the proof of the state of female conductors of haemophilia B. The prenatal diagnostics of sex is recommended for pregnant conductors by amniocentesis in the 14th week of pregnancy. Only in few countries the prenatal diagnostics of haemophilia is possible. In blood tests taken by means of fetoscopy beginning with the 18th week of pregnancy the factor VIII coagulation property is determined by immunoradiometrical methods or recently even by means of a coagulation method. Though for the genetic consultation only female conductors in the reproductive phase are of importance, for the search of female conductors the whole lineage must be worked up genealogically, at least over four generations and with the help of archives material. The genetic consultation of haemophils and female conductors should be performed early and directedly, for important reasons also repeatedly.

Amniocentesis↗
PubMed1981

Prenatal diagnosis of skin disorders.

Prenatal diagnosis of inherited diseases has hitherto been obtained mainly by cytogenetic or biochemical analysis of cultured amnion cells. Xeroderma pigmentosum, Fabry's disease and x-linked ichthyosis can be diagnosed in this way. Recently, techniques for taking fetal blood or skin samples by fetoscopy in the 16th to 20th week of gestation have been developed. Epidermolysis bullosa lethalis and ichthyotic erythroderma have thus been diagnosed on fetal skin samples.

Biopsy↗
PubMedDate not supplied

[Prenatal diagnosis of hemoglobinopathies].

Fetal red blood cells are necessary for the antenatal diagnosis of hemoglobinopathies. Fetal blood may be obtained in utero, by amniocentesis or fetoscopy, from the 17th to the 20th week of pregnancy. At this time, biochemical techniques may detect bêta-thalassemia major (fetal synthesis of hemoglobin btaA chain totally absent or less than 2% and sickle cell disease (fetal synthesis of btaS chain, without any production of bêtaA chain). When fetal blood has been severely contaminated by maternal blood, purification techniques allow enrichment of the sample in fetal red blood cells by the elimination of adult reticulocytes which may lead to errors in diagnosis.

Erythrocytes↗
PubMed1982

Antenatal diagnosis--its present status and future prospects.

In the past decade dramatic developments have taken place in antenatal diagnosis. Various techniques are now fully established as routine procedures and these are applicable to several categories of genetic diseases. Transabdominal amniocentesis is currently the most important method for the prenatal diagnosis of chromosomal conditions, neural tube defects and biochemical disorders. Ultrasonography is playing an increasingly important role in the detection of malformations, while fetoscopy is now employed for fetal blood sampling, biopsy and visualization. Recombinant DNA techniques hold great promise for the intra-uterine diagnosis of common and important disorders in which the fundamental defect is unknown.

Amniocentesis↗