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PubMed1983

Fetal blood group studies during mid-trimester pregnancy and the management of severe isoimmunization.

Fetal blood samples collected at 14-22 weeks' gestation by fetoscopy have been analysed for 25 different red cell antigens and anti-A antibodies. The results obtained demonstrate that the technique can be used to determine fetal blood groups during mid-pregnancy and also to provide the opportunity to study the physiological and pathological developments of blood groups and their antibodies and to manage more rationally those pregnancies threatened by erythroblastosis fetalis.

Antibodies, Anti-Idiotypic↗

PubMedDate not supplied

Can infantile hereditary agranulocytosis be diagnosed prenatally?

Fetoscopy and fetal blood sampling were performed in an attempt at prenatal monitoring of a pregnancy at risk for infantile hereditary agranulocytosis (Kostmann's disease). In smears of fetal blood three segmented neutrophils were found out of 200 nucleated cells (1 1/2 per cent). Their presence, although in a lower percentage than in six age-matched controls, was considered to indicate that the fetus was not affected. The newborn infant has developed normally and at the age of four months has a normal number of segmented neutrophils in his peripheral blood. Feasibility of prenatal diagnosis of infantile hereditary agranulocytosis is discussed.

Adult↗

PubMed1983

Early prenatal detection of diastrophic dysplasia.

Diastrophic dysplasia, an autosomal recessive disorder, results in severe short-limbed dwarfism, progressive spinal and joint problems, and secondary psychosocial disability. The results of treatments are unsatisfactory. Four pregnant mothers at risk for an affected fetus were studied with an ultrasound scanner at 16 and 19 weeks of gestation. Each mother had a previous child with diastrophic dysplasia. The biparietal distance and the length of the long bones of the extremities were normal in three fetuses, whereas in one fetus there was a 30 per cent shortening of all long bones. The biparietal distance corresponded with the gestational age in all fetuses. In one fetus, diastrophic dysplasia was confirmed by fetoscopy and fetal radiograph at 19 weeks of gestation after the parents had decided to terminate the pregnancy. The skeletal radiograph and autopsy findings of the fetus verified the diagnosis. All other mothers were followed with repeated ultrasound examinations, and they delivered healthy babies. The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. These complications were, however, mild and transient, and they could not be regarded as specific for pregnancies with affected fetuses.

Abnormalities, Multiple↗

PubMedDate not supplied

False elevation of amniotic fluid enzymes of relevance for prenatal diagnosis: creatine kinase measurement in relation to Duchenne muscular dystrophy.

The creatine kinase activity of amniotic fluid was measured in samples collected at fetoscopy. In our first study, the control sample range was 0.25 IU/l, although four samples had activities of 35-85 IU/l. Elevated values did not correlate with the activities in the fetal or maternal circulations. Electrophoresis revealed the presence of the BB isozyme of creatine kinase rather than just the MM form as expected. This suggested that the source of the elevated enzyme activity was from the myometrium, damaged by insertion of the trocar and cannula. In a further series the first 2 ml of amniotic fluid withdrawn yielded a much higher creatine kinase activity than a second aliquot. A control series of such second samples (first 2 ml discarded) gave an activity range of 0-7 IU/l with no spuriously high values. This compares favourably with a series from single samplings taken by amniocentesis. Normal creatine kinase activities were found in the amniotic fluids from 20 pregnancies at risk of Duchenne muscular dystrophy. We conclude that for accurate measurement of amniotic fluid enzyme activity the first portion withdrawn should be discarded. Amniotic fluid creatine kinase activity is of no value for the prenatal diagnosis of Duchenne muscular dystrophy.

Amniocentesis↗

PubMedDate not supplied

Prenatal diagnosis of mandibulofacial dysostosis.

Four fetuses at risk of the autosomal dominant Treacher-Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post-mortem examination.

Female↗

PubMedDate not supplied

Creatine kinase estimation in pure fetal blood samples for the prenatal diagnosis of Duchenne muscular dystrophy.

This paper compares the results of a survey of plasma creatine kinase (CK) activity measured in fetuses at-risk for Duchenne muscular dystrophy (DMD) with a reliable control series. Only pure fetal blood samples obtained by fetoscopy at between 17-24 weeks gestational age were used. Of the at-risk group 19 male pregnancies, mostly at low risk for DMD, proceeded to term with a normal outcome; there was no significant difference between their fetal plasma CK activities and the control group. Another 21 male pregnancies were terminated. This group included the highest risk mothers and hence was expected to contain a significant proportion of affected fetuses. The fetal plasma CK activity range was overlapping but significantly higher than the control group. No grossly elevated CK value was obtained. We conclude that, on average, DMD fetuses at this gestational age have higher plasma CK activity than controls. The problems of applying this finding to the prenatal diagnosis of DMD are discussed.

Creatine Kinase↗

PubMedDate not supplied

Immunoreactive trypsin level in fetoscopically-obtained cord sera of second trimester fetuses.

Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based on IRT estimation might be valid if the onset of pancreatic dysfunction associated with the disease also occurs at mid-trimester.

Cystic Fibrosis↗

PubMedDate not supplied

Prenatal detection of rubella-specific IgM in fetal sera.

Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Specific IgM was detected in the other three fetuses. In one case the level was low (1 unit) and this pregnancy went to term resulting in a neonate with clinical and laboratory evidence of congenital rubella infection. The remaining two fetuses had 2.8 and 2.4 units of specific IgM and the pregnancies were terminated. Blood obtained from these two fetuses after abortion showed levels of 5.4 and 2.9 units respectively. No specific IgM was detected in sera from eleven other fetuses aborted because of maternal rubella but five of these cases were terminated before 19 weeks and in five the interval between rash and abortion was three weeks or less. The results show that the human fetus can produce detectable specific IgM antibody by 19-20 weeks' gestation after exposure to rubella several weeks earlier. However, a larger study is required to define the reliability of fetoscopic blood sampling for the diagnosis of intrauterine infection.

Amniotic Fluid↗

PubMedDate not supplied

Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome).

Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorism-dysphagia syndrome (or Opitz-G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz-G syndrome.

Adult↗

PubMed1987

Prenatal diagnosis of congenital non-bullous ichthyosiform erythroderma (lamellar ichthyosis).

We report the first positive prenatal diagnosis of congenital non-bullous ichthyosiform erythroderma or lamellar ichthyosis. Fetal skin samples were obtained by fetoscopy at 21 weeks' gestation and examined by light and electron microscopy. Light microscopy revealed a thickened interfollicular epidermis with multiple layers of flattened cells and excessive keratinization of the epidermal lining of the follicular infundibulum. Electron microscopy of the thickened epidermis revealed granular cells that contained larger-than-normal keratohyalin granules and multiple layers of parakeratotic cornified cells. Although there was regional variation in the degree of interfollicular keratinization, follicles from all regions showed greater and more complete keratinization, indicating that they express the abnormality early enough in development to permit prenatal diagnosis at about 20 weeks' gestation.

Abortion, Therapeutic↗

PubMed1987

Prenatal diagnosis of the fragile X syndrome using fetal blood and amniotic fluid.

Nineteen pregnancies at risk for the Martin-Bell syndrome have been monitored during the second trimester for the presence of the fragile Xq27. Of the 19 potential carrier mothers, 14 showed the presence of the fragile X in their lymphocytes at a level of 4 per cent or above. As one was a twin pregnancy, fetal blood was obtained at fetoscopy from 20 fetuses and amniotic fluid obtained simultaneously from 19 of them. Of the 20 fetuses, 18 were males (including both of the twins) and two were females. Of these 18 males, seven were found to carry the fragile Xq27 in lymphocytes and subsequently six of the seven were terminated. The diagnosis was confirmed in five of the six terminated fetuses (the sixth case was a patient whose pregnancy was terminated abroad) and also in a full-term male baby. Five of the seven males without the marker X who came to term had their karyotypes confirmed post natally. Of the two female fetuses one was found to be a carrier of the fragile X and the other was not. Both babies had full-term deliveries and both had their karyotypes confirmed post natally. In some cases the diagnosis made in fetal lymphocytes was confirmed later in amniocytes.

Adult↗

PubMed1990

Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa.

Recently a monoclonal antibody (19-DEJ-1) was produced with binding specificity for the mid-lamina lucida of the skin dermo-epidermal junction, in very close association with overlying hemidesmosomes. Since skin cleavage occurs within the lamina lucida in the inherited blistering disorder, junctional epidermolysis bullosa (EB), and is associated with aberrations in the morphology and/or number of hemidesmosomes in such tissue, we have sought to determine whether this monoclonal antibody could be used for prenatal diagnosis. Fetoscopy-directed skin biopsies were obtained from two fetuses at risk for junctional EB and post-mortem samples from two other fetuses with the Herlitz type of junctional EB, the latter after prenatal diagnosis by electron microscopy and termination of each pregnancy. Specimens were examined in part by light and electron microscopy for evidence of skin cleavage or other alterations in morphology, and in part by indirect immunofluorescence for altered basement membrane antigenicity. Three of four fetuses were shown to have intra-lamina lucida blister formation indicative of, and hemidesmosome hypoplasia proving, junctional EB. Each was also shown to lack expression of GB3 and 19-DEJ-1 antigens, consistent with findings noted postnatally in junctional EB; diagnosis was confirmed in each at the time of therapeutic abortion. A fourth fetus had no abnormalities detected; lack of disease involvement was confirmed at the time of delivery, and subsequently over 8 months of careful serial evaluation. We conclude that 19-DEJ-1 monoclonal antibody is an accurate and sensitive immunohistochemical probe for junctional EB, and may be employed in the prenatal diagnostic evaluation of fetuses at risk for this disorder.

Antibodies, Monoclonal↗

PubMed2003

Transcervical fetoscopic diagnosis of structural defects in four first-trimester monochorionic twin intrauterine deaths.

OBJECTIVE: While chromosomal abnormalities are often the cause of early failed pregnancies, other mechanisms could be involved in monochorionic twin intrauterine deaths, that might be screened for careful morphological analysis. METHODS: Transcervical fetoscopy prior to instrumental evacuation of the uterus was performed in four first-trimester monochorionic twin intrauterine deaths. RESULTS: We present fetoscopic and cytogenetic findings in four cases of monochorionic twin intrauterine deaths. In the first, generalized abnormal embryonic development observed in both twins was a manifestation of trisomy 20. The second (thoracophagus) and third (acardius) pair of twins had anomalies peculiar to multiple gestations. The fourth pair of twins was remarkable because of the concordance for the observed limb-reduction defects. CONCLUSION: Malformations of first-trimester monochorionic twin intrauterine deaths might cover a wide spectrum of etiologies from abnormal chromosomes and single gene defects to rare duplication anomalies. Their detection by careful morphological analysis and the identification of a specific mechanism provides valuable information for genetic counseling and prenatal investigation in a future pregnancy.

Abnormalities, Multiple↗

PubMed1997

Reducing the deleterious effects of intrauterine CO2 during fetoscopic surgery.

The fetoscopic approach to fetal intervention is a promising minimally invasive technique for correcting congenital anomalies in utero. However, expansion of the amniotic cavity with CO2 to visualize the fetus causes fetal hypercarbia and acidosis. We assessed whether maternal hyperventilation during intrauterine CO2 insufflation could attenuate the fetal hypercarbic acidosis. Seven fetal lambs of 105 +/- 2 days (mean +/- SEM) gestation (term = 145 days) were instrumented with a carotid arterial catheter in utero. After 7 +/- 1 days of recovery, fetoscopic exposure was obtained with intrauterine insufflation of CO2 at 10 mmHg of intraamniotic pressure. After 30 min, the ewe was hyperventilated at a mean respiratory rate of 23/min for 30 min under continuous insufflation. The uterus was then deflated and following 1 hr of stabilization, and the same protocol of CO2 pneumometrium was repeated. Fetal and maternal arterial blood was sampled at baseline and at 15 min intervals. Fetal PaCO2 increased during 30 min of CO2 insufflation (50.8 +/- 2.8 vs. 72.3 +/- 5.0 mmHg, P < 0.01); however, this change was reversed (to 51.5 +/- 3.0 mmHg, P < 0.01) by 30 min of maternal hyperventilation. The fetus developed acidosis after 30 min of CO2 pneumometrium (pH 7.350 +/- 0.012 vs. 7.236 +/- 0.026, P < 0.01); this was also reversed (to 7.366 +/- 0.019, P < 0.01) by maternal hyperventilation. These results were reproducible during the second CO2 insufflation challenge. Fetal hypercarbic acidosis during fetoscopy with CO2 insufflation is reduced by maternal hyperventilation.

Acidosis↗

PubMed1977

[Detection of genetic defects by amniocentesis in early pregnancy (author's transl)].

In the view of the obstetrician the development of prenatal diagnosis of genetic diseases is the consequent continuation of preventive measures for mother and child during prenatal care. In vitro cultivation of fetal cells after amniocentesis in the beginning second trimester enabled the use of those cells for cytogenetic and biochemical analyses. In doing so, chromosomal anomalies, an increasing number of inborn metabolic diseases and open neural tube defects can be detected or excluded in early pregnancy. We are today in a position to encourage carrier families suffering from hereditary defects to have children in cases which have so far been dissuaded from pregnancy. Due to the fact that in approximately 95% of the cases an inborn anomaly can be excluded prenatal diagnosis of congenital defects has got a positive effect on the ongoing pregnancy and over all family planning. Based on our studies of 1000 amniocenteses indications, risks and results are being presented. The diagnostic possibilities of the fetoscopy are being discussed in the light of the first own experiences.

Amniocentesis↗

PubMed1996

Transesophageal echocardiography in fetal sheep. A monitoring tool for open and fetoscopic cardiac procedures.

BACKGROUND: Cardiac procedures in exteriorized fetuses or assisted by fetoscopy require monitoring capabilities not attended by conventional maternal transabdominal echocardiography. METHODS: We, therefore, assessed the potential of fetal transesophageal echocardiography (TEE) utilizing an intravascular ultrasound catheter (IVUC) for fetal cardiac monitoring. We inserted a 10-F-10-MHz IVUC into the esophagus in 12 exteriorized fetal sheep and by a fetoscopic approach in 4 fetal sheep. Cardiac events were observed. Heart rate, cardiac rhythm, patency of the foramen ovale and ductus arteriosus, and the width of the branch pulmonary arteries could be assessed in all fetuses. Ventricular contractility could be assessed only in fetuses weighing less than 2.5 kg. Larger fetuses did not allow adequate imaging of the apical portion of the ventricles because of limited tissue penetration of the IVUC. Fetal TEE permitted placing small guide wires in the cardiac atria and left ventricle. Short-lived premature beats following intracardiac manipulations of these wires could be observed by fetal TEE in all cases. RESULTS: At autopsy, no complications from IVUC insertion were observed in the exteriorized fetuses. Fetoscopic placement of the IVUC resulted in minor perioral skin erosion in two nonexteriorized fetuses. CONCLUSIONS: In conclusion, fetal TEE can be achieved with minor fetal injury and may provide useful information during open and fetoscopic cardiac procedures. Further improvements in IVUC design will permit the application of this technique to monitor human fetal cardiac procedures.

Animals↗

PubMed1985

Prostaglandins in the fetal circulation following maternal ingestion of a prostaglandin synthetase inhibitor during mid-pregnancy.

To assess the possible effect upon the fetus of maternal ingestion of the prostaglandin synthetase inhibitor, mefenamic acid, taken during mid-pregnancy (15-22 weeks) to prevent spontaneous abortion, samples of fetal blood were collected at fetoscopy from 13 treated and 14 untreated control cases. Mefenamic acid levels in the fetus were 32-54% of those in the mothers in the treated group, while prostaglandins E2 (PGE2), 6-oxo-PGF1 alpha and PGFM were all slightly but not significantly lower in those patients given 500 mg mefenamic acid 40-180 min prior to sampling than in untreated controls. Results indicate that the prostaglandin synthetase inhibitor crosses the placenta at this early gestation and may possibly suppress fetal prostaglandin production.

6-Ketoprostaglandin F1 alpha↗

PubMed1988

A fetoscopic method for enucleation in developmental studies of the visual system.

Prenatal enucleation is accomplished by fetoscopy using an arthroscope and a needle for the delivery of electric current into the uterus of anesthetized, pregnant cats. Under direct vision, the eye(s) of the fetus are easily discerned and can readily be lesioned by the application of an electrical current delivered through the needle. The procedure is relatively simple to perform, minimizes uterine trauma and therefore postsurgical recovery times for the mother cat, enhances the prolongation of pregnancy and allows a shorter operating time for accomplishing the enucleation than does normal surgical invasion. It should be possible to make other uses of the approach, such as prenatal ocular injection of dyes or of tracer substances in place of the enucleation.

Animals↗