Ovarian endoscopy: a new area for research.
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Comment↗
Biomedical subjects
R A Quintero
Publications and source records attributed to R A Quintero.
Brief report: umbilical-cord ligation of an acardiac twin by fetoscopy at 19 weeks of gestation.
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Adult↗
Fluorescent in situ hybridization utilization for high-risk prenatal diagnosis: a trade-off among speed, expense, and inherent limitations of chromosome-specific probes.
OBJECTIVE: The development of fluorescent in situ hybridization chromosome-specific probes has allowed the use of new fetal tissue collection techniques, such as fetal cells in maternal blood and coelocentesis--both of which, with current techniques, cannot generate complete karyotypes. We evaluated chromosome-specific probes for additional potential limitations in the setting of a high-risk prenatal diagnosis center. STUDY DESIGN: The last 24 months of fetal karyotypes from our prenatal cytogenetics laboratory were analyzed for those abnormalities that should be detectable by chromosome-specific probes and those that would likely be missed. RESULTS: In 6006 karyotypes 207 (3.4%) abnormalities were found, of which 104 were common trisomies, 12 triploidies, and 19 monosomies that would have been detected with current probe combinations (13, 18, 21, X, and Y) (135/207, 65.2%). Seventy-two abnormalities (35%) represented other trisomies (16/207, 7.7% for 9, 12, 15, 16) and rearrangements (inversions, translocation markers were 56/207, 27.1%), which would have been missed. CONCLUSIONS: Use of current fluorescent in situ hybridization chromosome-specific probes protocols would have detected only 65% of chromosome abnormalities in our high-risk population. Incomplete ascertainment must be weighed against the cost and speed of fluorescent in situ hybridization chromosome-specific probes when comparing it with traditional karyotyping. Although this new technique may prove useful in low-risk screening programs (fetal cells in maternal blood), its current use in high-risk populations should be questioned until its sensitivity is expanded to identify more subtle and less common chromosomal abnormalities.
Chromosome Aberrations↗
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↗
Effect of endoscopic white light on the developing visual pathway: a histologic, histochemical, and behavioral study.
OBJECTIVE: We examined the potential teratogenic effect of endoscopic white light on the developing visual pathways. STUDY DESIGN: The right eye of chicken embryos (n = 22) was exposed to maximal endoscopic light intensity on day 10 of development. At day 17 of development the histologic characteristics of the light-exposed retinas were compared with those of the control embryos (n = 4). Normal functioning of the light-exposed eye was assessed by intravitreal injection of wheat germ agglutinin-horseradish peroxidase and observation of its axonal transport pattern to the diencephalic and mesencephalic visual centers. Axonal transport patterns were compared with those found in previous studies of normal embryos. Behavioral feeding patterns were compared between two groups of newly hatched chickens, one exposed to endoscopic light after hatching (n = 13) and the other, an unexposed control group (n = 12). RESULTS: No evidence of retinal damage, altered axonal transport or altered feeding patterns could be found between control and experimental animals. CONCLUSION: Endoscopic white light does not appear to be harmful to the developing retina and visual pathway.
Animals↗
The natural interleukin-1 receptor antagonist in the fetal, maternal, and amniotic fluid compartments: the effect of gestational age, fetal gender, and intrauterine infection.
OBJECTIVES: The interleukin-1 receptor antagonist is a newly discovered cytokine that blocks the biologic effects of interleukin-1 in vitro and in vivo. This cytokine is a physiologic component of amniotic fluid and is considered to be of critical importance in the homeostasis of the cytokine network. This study was undertaken to systematically examine the bioavailability of interleukin-1 receptor antagonist in the maternal, fetal, and amniotic fluid compartments during term and preterm parturition in women with and without microbial invasion of the amniotic cavity. STUDY DESIGN: The patient population consisted of (1) pregnant women in the midtrimester (n = 42), (2) patients who underwent cordocentesis for diagnostic purposes (n = 39), (3) patients with preterm labor (n = 126), (4) women with term gestation (n = 102), and (5) healthy nonpregnant women (n = 8). Amniotic fluid was cultured for aerobic and anaerobic bacteria, as well as Mycoplasma sp. Interleukin-1 receptor antagonist concentrations were determined by enzyme-linked immunoassay in maternal and fetal plasma, amniotic fluid, and neonatal urine. Microbial invasion of the amniotic cavity was defined as the presence of a positive amniotic fluid culture for microorganisms. RESULTS: (1) Interleukin-1 receptor antagonist was normally present in fetal plasma samples obtained by cordocentesis, and its concentration increased with advancing gestational age (n = 39; r = 0.61, p < 0.001). (2) Patients at term not in labor had higher amniotic fluid interleukin-1 receptor antagonist concentrations than patients in the midtrimester (median 40.1 ng/ml, range 5.7 to 213.1 vs median 16.2 ng/ml, range 3.2 to 62.2, respectively, p < 0.001). (3) Amniotic fluid and cord plasma interleukin-1 receptor antagonist concentrations were significantly higher in patients with preterm labor and microbial invasion of the amniotic cavity than in those without microbial invasion of the amniotic cavity (amniotic fluid: median 219.9 ng/ml, range 35.4 to 504 vs median 80.6 ng/ml, range 24.3 to 399, respectively, p < 0.001; umbilical cord plasma: median 4.8 ng/ml, range 0.3 to 167.0 vs median 1.0 ng/ml, range 0 to 276.0, respectively, p < 0.05). In contrast, these differences were not found in patients with term labor either with or without microbial invasion of the amniotic cavity. (4) In both term and preterm patients the amniotic fluid and neonatal urine concentrations of interleukin-1 receptor antagonist were significantly higher in female fetuses than in male fetuses (amniotic fluid, preterm: median 191.9 ng/ml, range 51.6 to 504.0 vs median 61.1 ng/ml, range 11.5 to 284.9, respectively, p < 0.001; amniotic fluid, term: median 58.7 ng/ml, range 25.5 to 264.0 vs median 33.9 ng/ml, range 3.4 to 132.4, respectively, p < 0.001; neonatal urine: median 317 ng/ml, range 59.0 to 440.8 vs median 12.2 ng/ml, range 2.5 to 61.6, respectively, p < 0.005). CONCLUSIONS: (1) Interleukin-1 receptor antagonist is physiologically present in the fetal, maternal, and amniotic fluid compartments; (2) microbial invasion of the amniotic cavity in the preterm gestation is associated with a significant increase in the concentrations of this cytokine in the fetal and amniotic fluid compartments but not in maternal plasma; (3) fetal urine is a source of amniotic fluid interleukin-1 receptor antagonist; (4) fetal plasma interleukin-1 receptor antagonist concentrations increase with gestational age; (5) there is a significant effect of fetal gender in amniotic fluid and neonatal urine concentrations of interleukin-1 receptor antagonist.
Amnion↗
Fetal muscle biopsy: collaborative experience with varied indications.
OBJECTIVE: To develop a fetal muscle biopsy technique for immunohistochemical diagnosis of Duchenne and Becker muscular dystrophies. METHODS: Data from two clinical centers and one reference laboratory were combined to show 12 completed cases, ten at risk for Duchenne muscular dystrophy, one for Becker muscular dystrophy, and one for mitochondrial myopathy. Samples of fetal gluteal muscle were obtained percutaneously under ultrasound guidance (some with endoscopic assistance) with a biopsy gun. The samples were frozen and assayed for dystrophin by immunohistochemical techniques. RESULTS: Samples were obtained in 11 of 12 (92%) cases, and spontaneous abortion after the procedure occurred in two of 12 (17%) cases. Laboratory diagnoses were possible on small samples, and four of 12 fetuses (33%) were affected. Endoscopy with direct visualization might aid in the procedure. CONCLUSIONS: The development of fetal muscle biopsy allows for an expansion of the diagnostic possibilities for myopathies. The experiences of our two clinical centers show that the procedure can be done with accuracy and acceptable safety. The evolving laboratory experience has reduced the amount of tissue necessary for the diagnosis, increased the sophistication of the immunohistochemical analysis, allowed the diagnosis of abnormalities in different parts of the dystrophin gene, and expanded the indications for the use of fetal muscle biopsy. Fetal muscle biopsy can be used successfully for the diagnosis in otherwise uninformative cases, and there is a wide variety of indications beyond traditional Duchenne muscular dystrophy possible, including female fetuses at risk because of X-autosomal translocations.
Abortion, Spontaneous↗
Transabdominal thin-gauge embryofetoscopy: a technique for early prenatal diagnosis and its use in the diagnosis of a case of Meckel-Gruber syndrome.
OBJECTIVE: Our aim was to develop and evaluate a transabdominal endoscopic technique to visualize the embryo or fetus with thin-gauge needles and submillimetric fiberoptic endoscopes. METHODS: Under ultrasonographic guidance, an 18- or 19-gauge thin-wall needle was introduced into the uterus of 28 patients undergoing first-trimester or early second-trimester termination of pregnancy. A 0.7 mm endoscope was threaded through the lumen of the needle after removal of the stylet. Visualization of the embryo-fetus was attempted before 14 weeks' gestation (n = 20). From 16 to 20 weeks (n = 8), the needle and endoscope were directed to the placental insertion of the umbilical cord, and a cordocentesis was performed. RESULTS: Excellent visualization of the surface anatomy of fetuses from 7 to 13 weeks was obtained in 85% of cases (17/20). A diagnosis of Meckel-Gruber syndrome was made at 11 weeks' menstrual age by visualizing postaxial polydactyly and an occipital encephalocele. Endoscopically assisted cordocentesis allowed visualization of the lumen of the umbilical vein and of the blood flow within it. CONCLUSION: Endoscopic visualization of the embryo or fetus can be performed transabdominally in the first trimester with small-delivered endoscopes. This represents a clear advantage over previous endoscopic approaches to the human pregnancy. Potential applications of this technique include a precise description of fetal anatomy and physiologic features, diagnosis of anomalies, and therapeutic fetal interventions.
Abdomen↗
Embryoscopic demonstration of hemorrhagic lesions on the human embryo after placental trauma.
OBJECTIVE: The purpose of this study was to evaluate embryoscopically the effect of placental trauma on the human embryo. STUDY DESIGN: Patients undergoing elective first-trimester termination of pregnancy underwent transcervical embryoscopy both before and after chorionic villus sampling. If hemorrhagic lesions were not observed on the fetus after chorionic villus sampling, partial placental detachment was performed with a blunt instrument, and the fetus was again observed. RESULTS: Hemorrhagic lesions were observed in 20 of 43 fetuses. In 13 of them, the lesions occurred after placental trauma with the chorionic villus sampling catheter alone (30%), whereas lesions were observed in the remaining seven patients after additional blunt placental disruption. The lesions were located most frequently on the cephalic region, and they grew in size during the observation period. Gestational age or amount of chorionic villus sampling tissue was not different between fetuses with or without lesions. CONCLUSION: Placental trauma results in embryoscopically demonstrable hemorrhagic lesions on the human embryo. Whereas some of these lesions may be of no consequence, others may lead to permanent changes. If similar lesions occur in deeper tissues, they could cause disruptions in development and conceivably could be related to anomalies reported in infants born to women who have had chorionic villus sampling procedures. Embryoscopy affords the opportunity to study possible mechanisms involved in the occurrence of anomalies.
Cervix Uteri↗
Embryoscopy and fetoscopy.
The introduction of transabdominal fiberoptic thin-gauge visualization of the embryo or fetus in the first trimester allows an earlier diagnosis of congenital anomalies currently beyond the resolution of ultrasound. In addition, it has the true potential of providing access to the fetal circulation at an early age, an accomplishment that would have enormous diagnostic and therapeutic implications. In the second and third trimester, operative fetoscopic techniques promise to open a new frontier in the diagnosis and management of fetal surgical and medical conditions.
Female↗
Fetal haemorrhagic lesions after chorionic villous sampling.
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Abortion, Induced↗
Prenatal medicine. Bringing surgery to the fetus.
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Female↗
Ontogeny of clenched-hand development in trisomy 18 fetuses: A serial transabdominal fetoscopic observation.
Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group. These variations result in radial or ulnar displacement of the tendons of extensor digitorum and digiti minimi, with overlapping of the fourth and fifth fingers radially and second finger in an ulnar direction. The ontogeny of these changes is unknown. We performed serial transabdominal thin-gauge fetoscopy in a patient with increased nuchal thickening at 12 weeks of pregnancy at the time of genetic testing and again at 14 weeks at the time of termination of pregnancy. Changes in the positioning of the fingers were not apparent at 12 weeks, but were evident at 14 weeks. The findings were beyond the resolution of ultrasound. We conclude that malpositioning of the fingers in trisomy 18 occurs some time between 12 and 14 weeks of gestation. Noninvasive confirmation of these findings may be possible with new and improved ultrasound imaging capabilities or perhaps with three-dimensional ultrasound.
Adult↗
In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy.
OBJECTIVE: To describe the prenatal diagnosis of trichothiodystrophy (TTD) through endoscopically-guided fetal eyebrow biopsy. MATERIALS AND METHODS: A 32-year-old patient, gravida 4, para 3, with a history of 2 previous infants affected with TTD was referred at 17(5)/(7) weeks for fetal hair biopsy. DNA repair studies had been normal in the previous children. Four 1-mm biopsies were obtained from the external aspect of the fetal eyebrows under direct endoscopic guidance. Fetal hair samples were assessed with polarized microscopy, electron microscopy, hematoxylin and eosin staining, and were also sent for analysis of sulfur content (cystine levels). RESULTS: The fetal eyebrows were the only adequate source of hair in the early second trimester. The biopsy samples yielded adequate material for all tests. Polarized microscopy showed characteristic banding patterns, but trichoschisis was not apparent. Cystine levels (19 micromol/l) in the biopsy sample were significantly lower than an age-matched (fresh spontaneous abortion) control (368 micromol/l). CONCLUSION: Prenatal diagnosis of TTD is possible in the second trimester through endoscopically-guided eyebrow biopsy. An adequate amount of hair is present in the eyebrows by then, and the disease is already manifest. Analysis of sulfur content of the hair samples is preferred over polarized or electron microscopy, as many classic microscopic findings of TTD may not be present in the early second trimester.
Adult↗
In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy.
OBJECTIVES: We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pattern. STUDY DESIGN: A 26-year-old, gravida 5, para 1, SAB 2, VIP 1, white female had a son with the diagnosis of BMD, with no other affected family members. In the current pregnancy, the male fetus inherited the same X chromosome. RESULTS: Fetal muscle biopsy revealed no dystrophin, consistent with the diagnosis of DMD, prompting re-analysis of the sibling whose diagnosis was then changed to DMD. CONCLUSIONS: Molecular techniques in prenatal diagnosis in this case not only led to the diagnosis of a severe disorder in the current pregnancy, but changed the diagnosis in another child, allowing for more appropriate counseling of this couple.
Abortion, Induced↗
Endoscopically assisted, ultrasound-guided fetal muscle biopsy.
Direct endoscopic visualization of in utero fetal muscle biopsy was performed in 2 cases for which the primary guidance for the procedure remained real time ultrasound. Direct visualization aids in the precise placement of the biopsy gun which may enable the procedure to be done at earlier gestational ages. At the currently used gestational ages (i.e. 18+ weeks), it does not substantially improve the procedure.
Biopsy↗
Repair kinetics of amnion cells after microsurgical injury.
OBJECTIVE: There is a paucity of data regarding healing of fetal membranes. We assessed the repairing ability of a microsurgically-injured monolayer of amnion-derived cells compared to an endothelial cell line. MATERIALS AND METHODS: Amnion-derived cells (FL cells) were grown to confluence in 10% fetal calf serum (FCS). A microsurgical incision was performed under an inverted microscope. The area of each incision was measured at times 0, 6, 12 and 24 h using MCID M4 image analysis software. The experiments were repeated using 1% FCS. The observations were also made replacing the media at 6 and 12 h. Umbilical-cord-derived endothelial cells were used for comparison. The rate of repair of the incision was measured using three methods: (a) absolute closure rate (ACR): (A0-A1)/T, where A0 is the original incisional area, and A1 is the new area at interval T: (b) relative percentage rate (RPR): (A0-A1)/A0/T x 100, and (c) healing rate (HR): (A0-A1)/A0 x 100. RESULTS: Amnion cells were capable of repairing the microsurgical defect. The ACR decreased over time, and was higher with larger defects. A lower concentration of FCS nor the addition of fresh media altered the repair process significantly. Endothelial cells were significantly faster than amnion cells or amnion-supplemented cells with endothelial media. The RPR remained relatively constant for all groups, suggesting Gompertzian kinetics. CONCLUSIONS: Amnion cells are capable of repairing a surgical defect at a relatively constant percent rate, but are slower than an endothelial cell line. The decreased rate of closure over time may be due to relative contact inhibition. Further studies will concentrate on the molecular and cellular mechanisms involved in this process.
Amnion↗
Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA.
OBJECTIVE: Prenatally diagnosed methylmalonic aciduria (MMA) has been treated in only a few fetuses, and has been done empirically with maternally administered cyanocobalamin (B12) in attempts to ameliorate sequelae that include failure to thrive, developmental delay, dehydration, and coma. There has not been a systematic attempt to titrate doses to fetal response. We investigated the alterations in maternal dosage necessary to keep maternal plasma (MP) and urine (MU) levels of MMA in the normal range secondary to the ability of pharmacological doses of B12 to catalyze the reaction of methylmalonyl-coenzyme A to succinyl-coenzyme A. METHODS: A 28-year-old woman, with a 3-year-old son affected with MMA, underwent amniocentesis at 15 weeks which showed a normal karyotype, elevated amniotic fluid MMA, and decreased amniocyte 5'-deoxyadenosylcobalamin, propionate, and methyl-tetrahydrofolate. MP and MU MMA levels were measured biweekly. B12 doses were altered periodically according to laboratory-determined levels. RESULTS: MP and MU levels varied with gestational age and in response to increases in maternally administered B12. CONCLUSIONS: With increasing gestation, fetal, and placental size, increasing doses of B12 are necessary to maintain MP and MU levels of MMA within normal range. The data suggest that close surveillance and frequent measurements of MMA are necessary to properly titrate B12 treatment.
Adult↗