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Value of fetoscopy in prenatal diagnosis.

A technique of fetoscopy and fetoscopic blood sampling is described that makes maximum use of ultrasound scanning. A particle size analyser is also an integral part of the procedure. The results are based on 170 fetoscopies, 85 of which were performed for diagnostic reasons. The anterior placenta is rarely a cause of failure and in many instances makes fetal blood sampling easier. Pure fetal blood is obtainable from the umbilical cord insertion in 95% of cases sampled after 18 weeks' gestation. Fetal mortality may be as low as 3% and long-term adverse sequelae have not yet been discovered.

Congenital Abnormalities↗

Fetoscopy. A new technique for antenatal intrauterine diagnosis.

The new technique of fetoscopy is an important advance in the antenatal intrauterine diagnosis of some fetal disorders. Because it enables fetal blood to be collected, fetoscopy has a major place in the intrauterine diagnosis of haemoglobinopathies, particularly fetal thalassemia major at 16-20 weeks' gestation in women at risk of bearing such a child.

Blood Specimen Collection↗

Operative fetoscopy: new perspective in fetal therapy?

In a limited number of conditions in utero surgery may be life-saving, such as some cases of congenital diaphragmatic hernia, cystic adenomatoid malformation of the lung, sacrococcygeal teratoma and lower urinary tract obstruction. Postoperative premature labour and its extreme invasiveness have been major drawbacks for open fetal surgery. More recently the merger of fetoscopy and advanced video-endoscopic surgery has been the basis of the concept of endoscopic fetal surgery. In order to evaluate the opportunities of 'fetendo' surgery, animal models have been developed to test the safety of the endoscopic approach, and the feasibility of surgical manipulations on the fetus. In the non-human primate, a lesser invasiveness of endoscopy over open surgical approach was demonstrated, by a significant decrease in uterine activity in comparison with hysterotomy. The main application of fetoscopy today is the surgical treatment of complicated or abnormal monochorionic twin gestations. Fetoscopic laser coagulation of chorionic plate vessels is suggested as a causal therapy for severe feto-fetal transfusion syndrome. Survival rates are around 55 per cent with an incidence of five per cent of neurological morbidity. Fetoscopic cord ligation is associated with a 66 per cent survival rate, but unfortunately also with a risk of 30 per cent for PPROM prior to 32 weeks. Although still in its early experimental phase, endoscopy seems to offer new hope for surgical fetal therapy. Though conceptually very tempting, the development of endoscopic fetal surgery should follow the formal guidelines, as earlier formulated for open surgery by the International Fetal Medicine and Surgery Society. The prospective registration of worldwide experience is advocated and a randomized trial of laser therapy versus amniodrainage is announced.

Animals↗

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↗

Prenatal diagnosis of hemoglobinopathies in twin pregnancies by double simultaneous fetoscopy.

A new technique for sampling fetal blood in twin pregnancies using two fetoscopes simultaneously is described. Two fetoscopes were inserted, one after the other, into both amniotic cavities and fetal blood samples were obtained from either the chorionic plate vessels or the umbilical cord insertion area. The observation of the bright tip of the second fetoscope behind the septum using the first fetoscope assured the successful entry of the two fetoscopes into the two different amniotic sacs. This technique was performed on 15 out of 17 patients. In all patients the fetuses were at risk of beta-thalassemia major. Sampling was successful in all cases. Double simultaneous fetoscopy seems to be a safe and accurate technique without technical problems or complications. The simultaneous use of two fetoscopes opens new possibilities in intrauterine fetal surgery and research.

Diseases in Twins↗

Prenatal diagnosis of X-linked mental retardation with fragile (X) using fetoscopy and fetal blood sampling.

Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X-linked mental retardation with fragile(X) at Xq27-28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chromosome while nine other fetal blood samples from pregnancies at risk for other X-linked diseases, or haemoglobinopathies did not show fragile sites at Xq27-28, and a blood sample from an abortus showed only 1 fragile site in 95 mitoses. Both pregnancies were terminated, cultures established from fetal tissues, and the diagnosis confirmed in each case. The problems of demonstrating the fragile site in tissues other than fetal blood in these pregnancies (such as amniotic fluid cells or fibroblasts from fetal tissues) are discussed.

Adult↗

Fetoscopy and fetal blood sampling in the management of a twin pregnancy with 45,X/46,XX amniotic fluid cell mosaicism and a suspected fluid sampling error.

A 37 year-old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy.

Adult↗

Fetal karyotypes from fetoscopy blood samples.

The fetal karyotype was determined in 42 out of 45 cases from fetal blood obtained by fetoscopy for prenatal diagnosis of beta-thalassemia. The procedure described is quick and reliable and it is recommended for women over 35 years of age undergoing prenatal diagnosis for haemoglobinopathies.

Adult↗

Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy.

A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA-stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin-chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.

Amniotic Fluid↗

Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy.

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis-van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non-invasive prenatal diagnosis of the syndrome is discussed.

Adult↗

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↗

Hydrolaparoscopy in the rabbit: a fine model for the development of operative fetoscopy.

OBJECTIVE: Our goal was to become adept at performing laparoscopic procedures within a fluid medium and at using miniature instruments in a small animal model. STUDY DESIGN: Adult female New Zealand rabbits underwent carbon dioxide laparoscopy while they were under general anesthesia with the use of 2 mm instruments. The abdominal cavity was filled with lactated Ringer's solution. Visualization of the intraabdominal organs and surgical procedures were performed below the fluid level. RESULTS: Excellent visualization of the abdominal organs below the fluid level was obtained. Several surgical tasks were accomplished, including cutting and coagulation of the uterine horns with monopolar electrocautery, creation of a defect in the mesovarium and mesometrium, extracorporeal knot tying, and intraabdominal cutting of suture material. Relatively high amounts of energy were needed during electrocautery within the liquid medium (> 25 W). Occasional fluid and gas leakage through the skin punctures was prevented with accessory clamps. CONCLUSION: Hydrolaparoscopy can be performed in the rabbit with miniature instruments. As it simulates the human intraamniotic environment, it is a useful model for the development of operative fetoscopy.

Abdomen↗

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↗

Incidence and impact of perioperative complications in 175 fetoscopy-guided laser coagulations of chorionic plate anastomoses in fetofetal transfusion syndrome before 26 weeks of gestation.

OBJECTIVE: The purpose of this study was to evaluate the perioperative complications in fetoscopy-guided laser therapy in fetofetal transfusion syndrome. STUDY DESIGN: Details of fetofetal transfusion syndrome cases who were delivered between 1999 and 2004 in a single center were reviewed retrospectively. RESULTS: One hundred seventy-five procedures were performed percutaneously with the use of local anesthesia. Survival at 6 months of at least 1, 1, and 2 babies was 73%, 38%, and 35%, respectively. Placental abruption and miscarriage was diagnosed in 3 and 12 cases, respectively. Premature rupture of membranes occurred in 49 cases (28%) and including 12, 29, and 46 cases that occurred before 24, 28, and 34 weeks of gestation, respectively. The entry of the trocar was transplacental in 48 cases (27%), but it was not associated with miscarriage (P = .26), premature rupture of membranes (P = .58), or placental abruption (P = .37). CONCLUSION: Fetoscopic laser treatment of fetofetal transfusion syndrome can be performed percutaneously with local anesthesia without significant maternal morbidity. Transplacental entry was not associated with premature rupture of membranes or miscarriage.

Chorion↗

Pure fetal blood from the umbilical cord obtained at fetoscopy: experience with 125 consecutive cases.

With experience, and with the use of a 30-degree forward-oblique viewing telescope, sampling from one of the vessels of the umbilical cord produced at least 0.5 ml of pure fetal blood in 97% of the cases between 14 and 24 weeks' gestation; by aspiration through a short-tipped, 27-gauge, specially constructed needle, adequate samples were ensured. The technique used overcomes the problems previously encountered with sampling from an anteriorly situated placenta, and offers considerable potential for investigating intrauterine physiologic and pharmacologic features, as well as providing excellent specimens for diagnostic purposes. With this method, the calculated optimum time for fetoscopy and sampling of fetal blood is 16 to 18 weeks' gestation.

Blood Specimen Collection↗

The midgestational rabbit as a model for the creation of membrane defects after needle fetoscopy.

OBJECTIVES: The aim of the study was to determine whether the pregnant rabbit at mid gestation could be used as a suitable in vivo model for the study of membrane defects after invasive procedures. STUDY DESIGN: Pregnant rabbits at gestational ages of 22 and 18 days (term is 32 days' gestation) underwent needle insertion with different instrument diameters (1.1 mm, 1.35 mm, 2.0 mm, and 2.7 mm). Two different insertion techniques were evaluated, blind amniotic puncture and puncture through surgically exposed amnion. Membrane integrity, presence of amniotic fluid, and fetal lung/body weight ratio were evaluated at 31 days' gestation. RESULTS: Among rabbits operated on at 22 days' gestation the amniotic integrity restoration at 31 days' gestation ranged from 46% to 76% in the different diameter and access technique groups, as compared with 98% in untreated sacs (P <.05 for all groups). Fetuses from sacs with persisting membrane defects had oligohydramnios and significantly lower fetal lung/body weight ratios. Survival rates among fetuses operated on at 18 days' gestation were so poor that appropriate statistical analysis was not possible in this group. CONCLUSIONS: The rabbit at mid gestation can be used as a model to reproduce permanent membrane defects after fetoscopy, reproducing oligohydramnios and pulmonary hypoplasia. This may provide a suitable in vivo model for the study of iatrogenic membrane defects.

Amnion↗

Direct intravascular fetal blood transfusion by fetoscopy in severe Rhesus isoimmunisation.

Two fetuses with severe anaemia due to rhesus incompatibility each received two early blood transfusions (between 23 and 25 weeks) by fetoscopy. The blood was given directly into an umbilical vessel, either at the umbilicus or at the placental cord insertion. Fetal blood samples were taken before and after transfusion to assess the haematological status of the fetus. One grossly hydropic fetus survived.

Adult↗

Fetoscopy in the management of twin pregnancies discordant for a severe abnormality.

Selective feticide by fetoscopic air embolism was carried out in six twin pregnancies complicated by discordance for a severe abnormality. In three, a previous diagnostic fetoscopy had been performed. The procedure was effective and uncomplicated in all cases. One patient is undelivered and five have delivered healthy babies, three at term and two preterm. One of the latter, delivered at 28 weeks, died of complications in the neonatal period.

Adult↗