[Prenatal diagnosis of neural tube defects by determination of alpha-1-fetoprotein concentration in amniotic fluid and maternal serum].
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Biomedical subjects
Publications and source records attributed to R Rauskolb.
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A total of 105 fetoscopies were performed either prior to therapeutic abortions or, in 29 cases, for diagnostic purposes. In these latter cases the fetuses were at increased risk for congenital syndromes, limb deformities, cleft lip and palate or neural-tube defects. The procedure is performed transabdominally under local anaesthesia. The studies confirmed the practicability of the fetoscopic technique as described. Done under direct vision, using simultaneous real-time ultrasound-scanning, the fetoscope can be introduced without damage to fetus and placenta. In diagnostic cases, a total visualization of the entire fetus is not always necessary, as recognition and examination of specific fetal parts is often sufficient for prenatal diagnosis. Viewed in this way, the rate of diagnostic fetoscopies reached 78%. In these cases, the targets chosen for inspection could, in fact, be reached by the fetoscope. A total inspection of the fetus was aimed at in those fetoscopies performed prior to planned abortions in order to gain practice, and this was achieved in 42% of cases. In 5 of the 29 patients already mentioned, the pregnancy was terminated immediately after fetoscopy, and in 24 cases pregnancy was continued. Abortions have so far been recorded in 4 cases, not all of which were necessarily due to the fetoscopy, however. In general, fetoscopy appears to hold less danger for mother and child than had previously been anticipated.
In three of 111 infants born after amniocentesis and in one of 5 fetuses aborted after amniocentesis, which could be examined, small skin lesions or scars were observed. Interpretation as sequelae of needle puncture appears possible, but questionable, particularly since similar lesions were observed in infants born after uncomplicated pregnancy without amniocentesis. The differential diagnosis of a focal dermal hypoplasia or aplasia may be considered, which may be hereditary.
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It is the aim of fetoscopy to recognise or exclude malformations which are visible in the fetal stage and which are not associated with chromosomal damage. The requisite endoscope can be inserted practically without any problems into the amniotic cavity under local anaesthesia and in the manner of an "extended amniocentesis". If pregnancy is continued, the risk involed in fetoscopy must be assessed as similarly low as that of simple aminocentesis, as the clinical experience collected so far has shown. The clinical use of fetoscopy requires close co-operation with the geneticist and the parents concerned. The decision that fetoscopy is indicated lies mainly with the geneticist on account of the required expert genetic knowledge. Fetoscopy appears justified if there is an increased risk of malformation of the fetus which is manifest in the foetal stage and which is sufficiently serious to initiate therapeutic abortion if necessary, and, furthermore, if the risk involved in fetoscopy is in reasonable proportion to the risk of teh malformation. Over and above this, fetoscopy can also be justified if it is necessary to obtain fetal blood for examination. Satisfactory technical and endoscopic experience is the most important prerequisite for success and for reduced risk. Up to now, indication of fetoscopy was exclusively coupled to existing pregnancy and enhanced genetic risk. On the other hand, the question whether pregnancy should be permitted despite a known risk, simply because subsequent fetoscopy is envisaged, should be treated with reserve.
Under local anaesthesia and ultrasound control (beta-mode; Vidoson) the fetoscope was introduced into the amniotic cavity in 23 women, 13-20 weeks pregnant. Used before planned surgical abortion the method decisively reduced the dangers of damage to the fetus. In 21 women introduction of the fetoscope was without problem, but twice obesity made it difficult. Placental surface, umbilical cord, fetal head and fetal limbs were more commonly seen than other fetal parts. In one instance fetoscopy made it possible to exclude Mohr's syndrome. Preliminary attempts to obtain fetal blood by puncture of placental vessels under fetoscopy were successful. The described technique seems highly promising. Further experience will demonstrate whether it is without danger and simple enough to be used routinely in the prenatal diagnosis of congenital anomalies.
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60 samples of amniotic fluid from 60 patients were obtained between 14 and 42 weeks gestation by dates and tested for their antibacterial activity against staphlococcus aureus strains and brucella abortus and their antimycotic activity against Candida albicans. The antibacterial and antimycotic activity of the amniotic fluid was confirmed. This activity increases steadily from the 15th week and reaches its maximum around term between 36 and 42 weeks. The amniotic samples obtained at 20 weeks gestation showed a weak antibacterial activity especially against staphlococcus aureus of human origin. The above results are important because of the increasing frequency of early and late diagnostic amniocentesis in pregnancy.
A fetoscope with a trocar of an external diameter of 3.9 and internal diameter of 2.9 mm was used. The optical equipment of the fetoscope had lenses with external diameters of 2.2 and 2.7 mm. The fetoscope can be inserted into the uterine cavity through the abdominal wall with local anaesthesia and insertion controlled by ultrasound. This type of insertion is uncomplicated and relatively free of risks. Thus an essential prerequisite for a successful fetoscopy is fulfilled. For the success of the fetoscopy, it is important to know what the diagnostic value of the procedure is and what can be seen through the fetoscope. The direct intrauterine visualization of the fetus or parts of the fetus is with the fetoscope under evaluation possible and was successful in 23 of 26 fetuses. The field of visualization is limited to 50 degrees by the optical system and only small parts of the fetus can be seen at a time. The extent of visualization of the fetus depends besides the optical system, on the quality of the amniotic fluid and the optimal timing of the fetoscopy in the second trimester between 15 and 18 weeks. Success is also dependant on the endoscopic experience and the technical training of the observer. After 13 of 26 fetoscopies the improvement was approximately 70%. Inspection of some parts of the fetus, for intance, the face is successful in every detail but still more or less fortuitous. Fetoscopy can only be deemed to be successful when a more or less total visualization of the fetus has heen accomplished. This was the case in 39% of the cases. Fetoscopy was used for diagnostic purpose in one case with the term delivery of a healthy infant. Fetal blood sampling by puncture of placental vessels under visualization is in its infancy. Fetoscopy is a justified procedure at this time in cases with a high genetic risk and for the avoidance of an abruptio.
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