Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Fetoscopy”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources
PubMed1999

Trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency.

We report a case of the prenatal diagnosis of trisomy 10 in a fetus presenting with an increased nuchal translucency thickness (5 mm) on a routine first-trimester anomaly scan at 12 weeks' gestation. Multiple abnormalities were diagnosed by ultrasound and fetoscopy. Karyotyping on chorionic villus sampling led to the diagnosis of homogeneous trisomy 10 which was confirmed by in situ hybridization on fetal tissue samples. Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation. Trisomy 10 is an uncommon chromosomal abnormality that is likely to be associated with increased fetal nuchal translucency. This case also emphasizes the value of a detailed anomaly scan in high-risk patients in the first trimester of pregnancy.

Abnormalities, Multiple↗
PubMed1998

The cobweb syndrome: first trimester sonographic diagnosis of multiple amniotic bands confirmed by fetoscopy and pathological examination.

Amniotic band syndrome is a well described clinical entity presenting with deformities of the limbs, thorax, craniofacial skeleton, soft tissues and umbilical cord, but it still lacks a precise definition and a coherent hypothesis for its pathogenesis. We report on a case of first trimester diagnosis of amniotic band syndrome by sonography and fetoscopy. This revealed multiple abnormalities including facial cleft, brain and limb deformities; the appearance of the amniotic cavity was that of a cobweb containing the fetus. Post-mortem examination and histopathological studies confirmed the diagnosis of amniotic band syndrome. These results may enhance the knowledge of its natural course. In addition, based on histological and newly identified ultrastructural features, we present a hypothesis which could help to explain the aetiopathogenesis of the amniotic band syndrome.

Adult↗
PubMed1980

Obstetric aspects of midtrimester fetal blood sampling by needling or fetoscopy.

We describe our experience at University College Hospital, London, with the first 135 patients submitted to midtrimester fetal blood sampling for antenatal diagnosis of beta-thalassaemia major, other thalassaemias and homozygous sickle cell disease. Blind needling and fetoscopy with sampling are evaluated and their application discussed. With experienced operators 9 per cent of patients experienced a fetal loss.

Anemia, Sickle Cell↗
PubMed1981

Prenatal diagnosis of alpha 1-antitrypsin deficiency by analysis of fetal blood obtained at fetoscopy.

Two women had each borne a child who had alpha 1-antitrypsin (alpha 1AT) deficiency Pi ZZ and who developed liver cirrhosis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of blood from the two fetuses were obtained at fetoscopy. In a control group of five Pi MM fetuses aborted by hysterotomy, the mean alpha 1AT level was 0.73 g/liter. Of the two fetuses at risk, one had an alpha 1AT concentration calculated as 0.60 g/liter, i.e., within the Pi MZ range. The electrofocusing pattern indicated a heterozygous Pi MZ phenotype which was confirmed at birth. The other fetus at risk had a markedly decreased concentration of alpha 1AT, 0.06 g/liter. Electrofocusing showed a homozygous Pi ZZ phenotype. Analysis of blood from the abortus confirmed these findings and thus the diagnosis of alpha 1AT deficiency. Speculation Most of the alpha 1-antitrypsin in amniotic fluid is derived from the mother. It therefore appears that the only possible way of making a prenatal diagnosis of alpha 1-antitrypsin deficiency is by examination of blood from the fetus. One fetus examined in the present study had an abnormal Z-pattern. This abnormality may indicate a disturbance of fetal liver function already in utero.

Female↗
PubMed1983

Prenatal exclusion of Herlitz syndrome by electron microscopy of fetal skin biopsies obtained at fetoscopy.

Two women had each borne a child who had died of Herlitz syndrome, i.e., epidermolysis bullosa atrophicans generalisata gravis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of skin from the two fetuses were obtained at fetoscopy in the 19th week of gestation. In both cases the disorder could be ruled out prenatally on the basis of ultrastructural demonstration of the regular presence of normal hemidesmosomes with well-developed sub-basal dense plates at the dermo-epidermal junction. The infants were subsequently born and had normal skin, the sites of fetal skin biopsies showing no scarring.

Epidermolysis Bullosa↗
PubMed1984

Prenatal diagnosis. Fetoscopy.

Since its introduction just over a decade ago, fetoscopy has become an effective procedure for the diagnosis of at least 50 congenital abnormalities. It can also be employed as an aid to therapeutic interventions in utero.

Amino Acid Metabolism, Inborn Errors↗
PubMed1982

Prenatal diagnosis of hemoglobinopathies: evaluation of techniques for analysing globin-chain synthesis in blood samples obtained by fetoscopy.

Three techniques for analysing hemoglobin synthesis in blood samples obtained by fetoscopy were evaluated. Of the fetuses studied, 12 were not at risk of genetic disorders, 10 were at risk of beta-thalassemia, 2 were at risk of sickle cell anemia and 1 was at risk of both diseases. The conventional method of prenatal diagnosis of hemoglobinopathies, involving the separation of globin chains labelled with a radioactive isotope on carboxymethyl cellulose (CMC) columns, was compared with a method involving globin-chain separation by high-pressure liquid chromatography (HPLC) and with direct analysis of labelled hemoglobin tetramers obtained from cell lysates by chromatography on ion-exchange columns. The last method is technically the simplest and can be used for diagnosing beta-thalassemia and sickle cell anemia. However, it gives spuriously high levels of adult hemoglobin in samples containing nonlabelled adult hemoglobin. HPLC is the fastest method for prenatal diagnosis of beta-thalassemia and may prove as reliable as the CMC method. Of the 13 fetuses at risk for hemoglobinopathies, 1 was predicted to be affected, and the diagnosis was confirmed in the abortus. Of 12 predicted to be unaffected, 1 was aborted spontaneously and was unavailable for confirmatory studies, as were 3 of the infants; however, the diagnosis was confirmed in seven cases and is awaiting confirmation when the infant in 6 months old in one case. Couples at risk of bearing a child with a hemoglobinopathy should be referred for genetic counselling before pregnancy or, at the latest, by the 12th week of gestation so that prenatal diagnosis can be attempted by amniocentesis, safer procedure, with restriction endonuclease analysis of the amniotic fluid cells.

Amniocentesis↗
PubMed1980

In utero paternity testing utilizing fetal blood obtained by midtrimester fetoscopy.

To evaluate paternity in a case where both rape and conjugal coitus had occurred close to the time of conception, fetoscopy with fetal blood sampling was performed at 20 weeks gestation. Detailed blood group typing of the wife, husband, and fetus, and the presence of a very long Y chromosome in the last two, indicated a 99.9% chance that the fetus was fathered by the husband and only a 0.1% chance that it was fathered by "some other male Caucasian." The couple elected to continue the pregnancy. Neonatal testing verified the prenatal findings.

Adult↗
PubMed1976

[Fetoscopy. A new method in prenatal diagnosis (author's transl)].

Fetoscopes are now being developed which make possible the inspection of human fetuses as well as withdrawal of a fetal blood sample in the early mid-trimester of pregnancy. The preliminary experiences of several groups are presented in this report. In addition, a fetoscopy including fetal blood sampling in a 24 week pregnancy prior to therapeutic abortion is described. The first prenatal diagnoses which have been made using this novel technique, concern defects of the fetal erythrocytes (sickle cel Hb, thalassemia). The fetal blood sample that was obtained in the present case was studied by appropriate methods. As expected, there was no evidence of either of these anomalies.

Anemia, Sickle Cell↗
PubMed1997

Diagnostic embryoscopy and fetoscopy in the first trimester of pregnancy.

Embryoscopy is the examination of the embryo at 9-10 weeks' gestation through the intact membranes by introducing an endoscope into the exocoelomic space transcervically or transabdominally. This is likely to remain confined to the management of early pregnancy in selected families affected by recurrent genetic syndromes with recognizable external fetal abnormalities. The procedure-related risk of fetal loss is around 12 per cent. Fetoscopy is the examination of the fetus after 11 weeks' gestation. This is performed transabdominally in the amniotic fluid. The technique has evolved with the miniaturization of the optical device by using fibre-optics technology. This procedure is likely to find new applications with the development of ultrasound examination at 10-14 weeks' gestation in order to, either confirm, or rule out suspected external fetal abnormalities. Amniocentesis can be performed at the same time. The procedure-related risk is likely to remain below 10 per cent but no accurate figures can be drawn from the literature.

Amniocentesis↗
PubMed1981

Sampling pure fetal blood in twin pregnancies by fetoscopy using a single uterine puncture.

A technique for sampling pure fetal blood in twin pregnancies using a single uterine entry with a fetoscope is described. The fetoscope was inserted into one sac and after blood had been obtained from that twin, the fetus in the other sac was sampled by trans-septal passage of the blood-sampling needle. This was done in six out of seven patients, the first in the series having two separate insertions of the fetoscope, one into each sac. Pure fetal blood was taken from all 14 fetuses, either from the placental insertion of the umbilical cord or the umbilicus, and the volume of the samples ranged from 200 mul to 1200 mul. In six patients the fetuses were at risk of beta-thalassaemia and in one of haemophilia A. Some observations are made relating zygosity to the ultrasonic and fetoscopic appearance of the septum between the sacs.

Abortion, Induced↗
PubMedDate not supplied

Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: use of the method for analysis of keratins and filaggrin.

This paper describes a method for biochemical analysis of proteins from fetal skin biopsy samples. The method has wide potential application for diagnosis of disorders with a known protein abnormality detectable by protein staining or a specific antibody. Analysis requires a single 1 mm biopsy, is rapid (2 days) and extremely sensitive. In the present study, fetal skin biopsies from normal fetuses and a fetus at risk for lamellar ichthyosis were obtained. The epidermis or hairs with attached follicular cells were dissected from the remaining skin. Proteins were extracted and separated by SDS-polyacrylamide gel electrophoresis. Proteins from duplicate gels were transferred to nitrocellulose and immunostained for the acidic and basic keratins and for the keratin filament associated protein, filaggrin, using monoclonal antibodies. All samples contained keratins typical of fetal epidermis at 20 weeks gestation. Presence of filaggrin is variable at this age and depends on the presence of keratinized cells of hair canals. No keratin abnormalities in the fetus at risk for lamellar ichthyosis were detected, however, in one presumably normal biopsy, an abnormally low proportion of the 67 kd keratin and the presence of follicular keratins were evident. These results demonstrate that biochemical analysis of fetal biopsies is possible, thus increasing the diagnostic potential of the fetal biopsy procedure for disorders in which a known protein or antigen is altered in utero.

Biopsy↗