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[Fetoscopy (author's transl)].

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.

Abortion, Therapeutic

[Clinical experience with fetoscopy (author's transl)].

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.

Amniotic Fluid

Fetoscopy--a new endoscopic approach.

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.

Abortion, Therapeutic

Sampling pure fetal blood by fetoscopy in second trimester of pregnancy.

A technique for fetal blood-sampling in the second trimester of pregnancy (between 16 and 22 weeks' gestation) combining fetoscopy with real-time ultrasound was used in 48 attempts at fetal blood-sampling. Specimens containing fetal red cells with or without amniotic fluid or maternal blood, and adequate for diagnosing haemoglobinopathies, were obtained in 45 of the 48 fetoscopies. Sampling was successful in all 18 patients with a posterior placenta, and in 27 of the 30 with an anterior placenta. In 22 of the last 27 consecutive fetoscopies pure fetal blood was taken; the placenta was anterior in 16 and posterior in six. Out of 17 cases sampled between 18 and 22 weeks' gestation pure fetal blood was obtained in 16. The volume of the samples varied from 50 to 500 microliter. The ability to obtain pure fetal blood consistently even when the placenta is anterior will increase knowledge of fetal physiology and the scope of prenatal diagnosis.

Blood Specimen Collection

Fetoscopy.

A brief report is given on fetal blood sampling by fetoscopy in three fetuses at risk for severe congenital bleeding disorder; hemophilia A in two cases, von Willebrand's disease in one. Published reports on complications of fetoscopy are reviewed. Out of all together about one hundred pregnancies that have been allowed to continue after fetoscopy, five ended in miscarriage. No other serious complication has been reported.

Abortion, Spontaneous

Sampling the fetoplacental circulation. II. Combined laparoscopy-fetoscopy in the pregnant ovine.

Induction of pneumoperitoneum, laparoscopy, and intrauterine endoscopy (fetoscopy) were successfully accompished in 23 pregnant sheep at 45 to 60 days' gestational age. The fetoscope, a conventional 2.7 mm. Hopkins straightforward wide-angle telescope (Stortz 27018A) encased in a prototype 3.1 mm. eccentric cannula, incorporates a 25 gauge needle channel. Multiple pregnancy was encountered in 11 animals. Forty-two separate fetoscopic trials were accomplished; a fetoplacental blood sample was obtained in 52 per cent of the trials. A mean interval of 19 +/- 9 days (+/- S.D., range 6 to 37 days) was allowed between fetoscopy trials. Fetal deaths occurred in nine animals (39 per cent). We believe that laparoscopy permits preselection of the proposed fetoscopy puncture site and will permit the operator to thereby avoid the placenta and/or uterine vessels.

Animals

Sampling the fetoplacental circulation. III. Combined laparoscopy-fetoscopy in the pregnant macaque for hemoglobin identification.

To demonstrate increased technical experience with fetoscopy and fetal blood sampling, two groups of macaques were compared to control animals. Group 2 had a perinatal mortality rate that was not significantly different from that of the control group. A 2.7 mm. Hopkins rod lens endoscope encased in an eccentric cannula, 3.8 mm. outside diameter, was used. When compared to the earlier test group (Group 1), the later test group (Group 2) showed greater adequacy of the fetal blood sample for laboratory analysis (P less than 0.01). Anthropometric and hematologic data collected at term births compared favorably in test and control groups, with the exception of the white blood cell count, which was significantly lower with fetoscopy (P less than 0.01). This is the first report of experimental fetoscopy with the use of a control group to provide precise data to aid in clarification of the ethical issues yet unresolved in this technology.

Animals

Fetoscopy in the practice of perinatology and obstetrics.

The clinical indications for fetoscopy in perinatal medicine are encompassing an ever widening circle of inherited diseases and teratologically induced disorders that can now or potentially be diagnosed in utero. Fetoscopy, which has evolved over the past 20 years into a clinically accepted procedure, is not without risk to the pregnant mother and the fetus. When the decision is made to perform the procedure, its merits should outweigh its inherent risks and it should be performed by a perinatologist experienced in the technique. Fetoscopy is appropriate when the fetus is at risk for teratologically induced malformation, inherited blood dyscrasias, sex-linked or autosomal abnormalities with gross malformations, or neural tube disorders that cannot be diagnosed by amniocentesis. Technical improvements should result in increased refinement and wider applicability of the technique in the future.

Congenital Abnormalities

Limitations of visualization of the entire fetus by means of second-trimester fetoscopy.

Fetoscopy with rigid fiber optics was performed under general anesthesia in 9 patients scheduled for therapeutic abortion by hysterotomy with a duration of pregnancy between 12 and 18 weeks. Visualization of fetus and placenta was found to be at random chance and incomplete, and could not be improved by internal or external manipulation. Skin biopsies were obtained in 5 cases. The cord could be recognized in all cases. It is concluded that the haphazard and incomplete visualization of the uterine contents at present precludes the application of second-trimester fetoscopy for early detection of visible congenital fetal abnormalities.

Abortion, Therapeutic

Early prenatal diagnosis of neural-tube defects by ultrasound-guided fetoscopy.

In three fetuses with neural-tube defects (N.T.D.s) the lesions were clearly seen by fetoscopy in the second trimester. In a fourth fetus, in which the diagnosis of N.T.D. was suspected because of raised amniotic-fluid alpha-fetoprotein, spina bifida was excluded by fetoscopic examination and a normal baby was delivered at term. Ultrasound-guided fetoscopy has a place in the diagnosis of N.T.D.s when the results of other investigations are conflicting or inconclusive, and may be useful in assessing the severity of a lesion.

Amniocentesis

[Fetoscopy under ultrasound control (author's transl)].

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.

Anesthesia, Local

Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy.

Successful fetoscopy using a 9 mm laparoscope was carried out on an 18-week pregnancy of a healthy woman who had had two previous male infants with bilateral double big toes, bilateral ulnar supernumerary digits associated with short segment Hirschsprung's disease, and ventricular septal defect of the heart, a syndrome apparently not previously described. The fetus was found to be normal, but an amniotic membrane defect was detected, which accounted for amniotic fluid leakage from 24 weeks up to delivery by caesaren section of a normal male infant at 35 weeks. The possible genetic basis and recurrence risk, put at probably one in four for this syndrome, is discussed. The indications for fetoscopy are set out and a fundal approach at laparotomy after placental localization is recommended for the procedure.

Endoscopy

Fetoscopy in continuing pregnancies.

A total of 34 fetoscopic procedures were performed in 28 patients whose fetuses were at risk for hemoglobinopathies (22 cases) or short-limbed dwarfism (three cases). An adequate sample of fetal blood for study of globin-chain synthesis was obtained in 23 of the 25 cases (92%), and valuable diagnostic information was obtained in all three cases at risk for an anomalous fetus. Six patients elected to terminate their pregnancies based on the studies, and in the 22 patients continuing their pregnancies there have been no losses. Thus far, data from this series suggest that fetoscopy is associated with low maternal and fetal morbidity.

Dwarfism

Fetal blood sampling by fetoscopy in pregnant ewes.

Successful fetal blood sampling by fetoscopy is reported in 4 out of 6 pregnant ewes. No deleterious effect of the procedure on the course of pregnancy and fetal outcome could be demonstrated. There were two main problems: floating membranes and mobile fetal cotyledon vessels. Although the first problem could in part be overcome by infusion of saline, fetal blood sampling in the pregnant ewe is a rather difficult and time-consuming procedure.

Animals

[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