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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

Normal blood cell values in the early mid-trimester fetus.

Samples of pure fetal blood from 116 fetuses of 15-21 weeks' gestation were obtained by direct vision fetoscopy. Ninety nine of these fetuses, presumed to be haematologically normal, were suitable for analysis. The data obtained show that the erythropoietic system is evolving rapidly in this gestational age range. The myeloid series shows no significant increase or decrease in numbers apart from eosinophils and basophils which increase significantly with gestational age whereas the platelet count remains constant. The growing application of fetoscopic blood sampling to the prenatal diagnosis and management of fetal blood disorders renders mandatory a knowledge of normal fetal blood values.

Erythrocyte Count↗
PubMed1990

Fetal laser surgery in genetic polydactyly mice.

The first digital ray of the hindlimb plate in Slc:ICR mouse fetus was irradiated with 2 watts argon laser beam for 0.3 sec after releasing from the abdominal cavity and envelop of uterine myometrium on day 13 of gestation, and then the fetuses were allowed to develop in the abdominal cavity contacting with the uterus via the placenta exo utero until term. ICR mouse fetuses which received fetal laser surgery lost their first digits completely, resulting in 4-digit hindfoot on day 18 of gestation. The homozygous Polydactyly Nagoya (Pdn/Pdn) mice exhibit 1-3 extra digits both in the fore- and hindlimbs preaxially. The extra digital rays in the left hindlimbs of Pdn/Pdn fetuses were irradiated with 2 watts argon laser beam for 0.3 sec on day 13 of gestation exo utero. The left hindlimbs of the Pdn/Pdn fetuses which received fetal laser surgery lost their preaxial extra digits on day 18 of gestation, resulting in 5 digits, though their 1st digit was triphalangia. The combination of a laser instrument with the fetoscope and/or ultrasound scanner may promote the fetal surgery of congenital anomalies in humans.

Animals↗
PubMed2003

Acardiac twin: a systematic review of minimally invasive treatment modalities.

This review of the literature aimed to determine pregnancy outcomes after minimally invasive treatment for occluding vascular supply to acardiac twins. A MEDLINE search was performed until 2002 using the terms 'acardiac', 'acardius', 'twin reversed arterial perfusion (TRAP) sequence' and 'chorangiopagus parasiticus' and 207 articles published in the English-language literature were identified. These articles and the corresponding cited references in English were reviewed. We identified 32 reports involving 74 cases of acardiac twin treated by minimally invasive techniques. Seventy one cases were included for analysis including 40 treated by cord occlusion and 31 by intrafetal ablation. Cord occlusion was first attempted by embolization (n = 5), cord ligation (n = 15), laser coagulation (n = 10), bipolar diathermy (n = 7) and monopolar diathermy (n = 3). Intrafetal ablation was performed by alcohol (n = 5), monopolar diathermy (n = 9), interstitial laser (n = 4) and radiofrequency (n = 13). The overall median gestational ages at treatment and delivery were 21 (range, 14-28) weeks and 36 (range, 19-42) weeks, respectively, with a median treatment-delivery interval of 13 (range, 0-25) weeks. The overall pump twin survival rate was 76% (n = 54). Intrafetal ablation was associated with later median gestational age at delivery (37 vs. 32 weeks, P = 0.04) and higher median treatment-delivery interval (16 vs. 9.5 weeks, P = 0.02) compared with cord occlusion techniques. It was also associated with a lower technical failure rate (13% vs. 35%, P = 0.03), lower rate of premature delivery or rupture of membranes before 32 weeks (23% vs. 58%, P = 0.003) and higher rate of clinical success (77% vs. 50%, P = 0.02) than cord occlusion techniques. There were no statistically significant differences in terms of outcome between the subgroups of fetoscopic- or ultrasound-guided cord occlusion techniques. This review suggests that intrafetal ablation is the treatment of choice for acardiac twins because it is simpler, safer and more effective when compared with the cord occlusion techniques.

Diseases in Twins↗
PubMed1983

Chronic granulomatous disease, a heterogeneous syndrome.

Chronic granulomatous disease (CGD) is a clinical syndrome, the unifying characteristics of which are a severe predisposition to bacterial and fungal infections, an impaired ability of phagocytic leukocytes to kill certain microorganisms and the failure of these cells to produce microbicidal oxygen metabolites. In CGD the causal biochemical defect and the mechanism of genetic transmission vary from family to family. At least six different molecular defects have been found to underly the X-linked and at least three other the autosomal recessive form of CGD. Diagnosis of carriers is possible in most instances, and prenatal diagnosis by fetoscopic placental vessel puncture has become feasible.

Bone Diseases↗
PubMed1989

Prenatal diagnosis and prevention of inherited abnormalities of collagen.

There is now strong evidence for the implication of collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemistry, immunofluorescence, or more sophisticated DNA analysis. Everyone of them with specific defects or with linkage to appropriate gene markers is therefore amenable to prevention using conventional prenatal diagnosis by chorionic villus biopsy (with fibroblast culture), fetoscopic biopsy (with fibroblast culture), ultrasound diagnosis of the severely deformed fetus, or gene linkage studies by chorionic villus biopsy or amniocentesis. Already many collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations have been characterized including point mutations, small and large deletions and regulatory mutations. Many others are likely to be rapidly studied by exploiting recent advances in DNA technology, and other strong candidate genes include collagen II (some chondrodystrophies), collagen VI (certain arterial and cardiovascular diseases) and collagen VII (dystrophic epidermolysis bullosa). Other important common diseases are likely to include osteoporosis, osteoarthritis and cerebral aneurysms. A detailed review is provided of collagen interstitial genes and proteins, together with a description of the various forms of osteogenesis imperfecta and Ehlers Danlos syndrome in which either collagen alpha 1(I), alpha 2(I) or alpha 1(III) mutations have been identified. Appropriate restriction length polymorphisms (RFLPs) useful in identifying carriers of these mutant genes are also described.

Collagen↗
PubMed2000

[Acardius or "twin-reversed arterial prefusion" sequence. Report of four cases and review of current therapeutic possibilities].

We describe four cases of acardius (one of hemiacardius, two of holoacardius acephalus, and one of the holacardius amorphus) and present the current range of therapeutic possibilities: control of amniotic fluid by repeated amniocentesis or indomethacin therapy, administration of digoxin to the mother, selective preterm delivery of the acardiac twin by hysterotomy, interruption of the anastomoses by injection of thrombogenic coils, sclerosing agents, umbilical cord ligation, fetoscopic laser coagulation, and thermocoagulation.

Abnormalities, Multiple↗
PubMedDate not supplied

Simultaneous in utero assessment of AV nodal and ventricular electrophysiologic parameters in the fetal sheep heart.

BACKGROUND: Fetal tachyarrhythmias are usually of supraventricular origin. To investigate whether specific electrophysiologic properties of the fetal heart contribute to this preponderance by either favoring supraventricular tachycardias or by rendering ventricular tachycardias unlikely, we measured fetal electrophysiologic parameters in utero using transuterine fetal transesophageal electrocardiograms in fetal sheep. Since overdrive pacing may help to establish the mechanism of an arrhythmia and may be used to treat fetal tachycardias, different modes of transesophageal pacing in utero were also assessed. METHODS AND RESULTS: Decapolar electrophysiology catheters were fetoscopically inserted into the esophagus of 9 fetal sheep (pregnancy duration 94- 105 days, term = 145 days). Electrocardiograms were recorded simultaneously from all adjacent bipoles and from two pacing wires sutured onto the fetal shoulders. Pacing was attempted either via two adjacent electrodes of the intraesophageal catheter or via the most distal and most proximal electrode. Fetal cycle length, PQ, and QT intervals were close to (approx. 75 %), but fetal QRS duration was < 20 % of maternal values, thus shifting the relation between activation and repolarization towards longer excitation wave lengths. Fetal QT dispersion was small (< or = 10 ms). Atrial pacing was achieved in all fetuses using distant electrodes, and with lower thresholds when compared to closely spaced bipolar electrodes (p < 0.05). CONCLUSIONS: (I) An altered relation between ventricular activation and repolarization and a low dispersion of ventricular repolarization may protect the fetal heart against ventricular reentrant tachycardias. (II) Relatively normal fetal AV nodal conduction delay already provides one of the prerequisites for supraventricular reentrant tachycardias involving the AV node at this stage of fetal development. (III) High-rate esophageal pacing of the fetal atria is best achieved using widely spaced bipolar pacing electrodes.

Animals↗
PubMed2002

Prenatal sonographic features of Harlequin ichthyosis.

Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder.

Adult↗
PubMed2006

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment (EXIT) are considered, additional malformations must be carefully excluded as CHAOS may be part of various monogenic conditions or chromosomal disorders. We report an unique family with autosomal dominant inheritance of CHAOS and variable expression in the affected father and two affected children. It is concluded that minor expression in one of the parents may be an important indicator for genetic counseling in CHAOS and management of future pregnancies.

Airway Obstruction↗
PubMed2000

Fetal therapy for obstructive uropathy: past, present.future?

Antenatal treatment of obstructive uropathy, although widely performed, remains controversial. An overview of prenatal therapy for obstructive uropathy, the limitations of the early published experience, advances of recent years, and future directions for treatment are reviewed. The clinical approach and outcomes of the Fetal Treatment Program of Hutzel Hospital and Wayne State University are presented. Patient selection for antenatal treatment is based on the existence of a significant threat of neonatal death due to pulmonary hypoplasia, pending exclusion criteria such as anatomical structural anomalies and chromosomal defects. Ultrasonography, karyotyping, and sequential urinary electrolyte analysis are essential. Current treatment involves the placement under ultrasonic guidance of a Rodeck vesicoamniotic shunt. Recent technical advances include the use of amnioinfusion for fetal visualization, temporary fetal paralysis, routine antibiotics, and more-precise catheter placement. The establishment of standardized short- and long-term outcome measures and the documentation of fetal and maternal complications are in progress. Procedural refinement, development of fetoscopic techniques and equipment, identification of urinary markers to aid patient selection, and the collection of multicenter outcome data will assist the future management of prenatally detected obstructive uropathy.

Animals↗
PubMedDate not supplied

Demonstration of placental vascular anatomy in monochorionic twin gestations.

Invasive treatment modalities for severe chronic twin-to-twin transfusion syndrome (TTTS), such as fetoscopic laser coagulation of communicating vessels, have revived the need for detailed studies of placental angioarchitecture. We describe a practical placental vascular injection technique using alcohol-resistant tissue-staining dyes. Injection of color-coded gelatin-dye mixtures effectively delineated the intertwin vasculature, and allowed unequivocal macroscopic classification of vascular communications as artery-to-artery, vein-to-vein, or deep artery-to-vein anastomoses. The existence of deep artery-to-vein anastomoses was further confirmed by light microscopic demonstration of venous dye of one twin and arterial dye of the opposite twin within the same stem villus. Furthermore, the injection technique allowed determination of the caliber of the anastomoses, the direction of the artery-to-vein anastomoses, and the relative vascular territory of each twin. Documenting the vascular communications in monochorionic twin placentas with and without TTTS may enhance our understanding of the pathogenesis of chronic TTTS. Correlating the anastomotic patterns and location of the laser coagulation scars with post-ablation outcome will aid in the design of rational therapeutic methods for this often lethal condition.

Adult↗
PubMed1977

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↗
PubMed1982

Midtrimester intrauterine exchange transfusion of the fetus.

Thirty-seven fetuses, 15 to 23 weeks' gestation, were subjected to intrauterine exchange transfusion under direct vision with a fetoscope prior to therapeutic abortion. A maximum of 30 ml of blood was exchanged, so that as much as 95% of the blood in the fetoplacental circulation was of donor origin. The technique clearly has potential value in the management of severe rhesus-hemolytic disease of newborn infants.

Blood Transfusion, Intrauterine↗
PubMed1985

The scheduling of repeat cesarean section operations: prospective management protocol experience.

There are benefits to patients and a busy obstetric service if repeat cesarean section operations are performed on a scheduled basis. Optimum management avoids prematurity and reduces the need for amniocentesis. Over a period of 20 months repeat cesarean sections were performed at Tripler Army Medical Center while a protocol with the following elements was used: (1) known last menstrual period; (2) landmarks: positive urine human chorionic gonadotropin test by 6 weeks, Doppler fetal heart tone by 12 weeks, date determination by examination before 10 weeks, fetoscope fetal heart tone by 20 weeks, and date determination by size before 30 weeks; (3) date determination by midtrimester sonogram(s); (4) normal third-trimester glucose screening; (5) biparietal diameter of 9.2 or 9.5 cm before scheduling. With two or more clinical landmarks and one date by sonogram or one landmark and date by two sonograms, elective repeat cesarean section was scheduled at 39 weeks if the biparietal diameter was greater than or equal to 9.2 cm (127). If dates by sonogram were less than dates by last menstrual period but greater than 1 week or if last menstrual period was unknown, dates by sonogram and landmarks corresponding to dates by sonogram were used to electively schedule, with biparietal diameters of 9.2 or 9.5 cm respectively required (28). If protocol criteria were not met or earlier delivery was indicated (e.g., vertical scar or diabetes), amniocentesis was performed (42), except when not possible, advisable, or refused when patients either elected labor (20) or were scheduled if three or more criteria for 40+ weeks were met (18). Of 225 patients (70.5%) scheduled by protocol (173), amniocentesis (34), or medical indication (18), 188 (58.9%) were delivered without labor. In the 147 patients (46.1%) delivered electively by protocol without labor or amniocentesis, there were no cases of respiratory distress syndrome and the mean birth weight was 3517 gm. With early care and better patient compliance nearly all repeat cesarean sections can be safely delivered electively with the use of this protocol.

Appointments and Schedules↗
PubMed1986

Have Liley charts outlived their usefulness?

Fetal blood and amniotic fluid samples were obtained fetoscopically from 59 rhesus-isoimmunized pregnancies at 18 to 25 weeks' gestation. Fetal hemoglobin was measured and amniotic fluid optical density deviation at a wavelength of 450 nm determined. Two sets of normal reference values for optical density at 450 nm and fetal hemoglobin at 16 to 36 and 16 to 25 weeks were established from 475 amniotic fluid and 153 fetal blood samples obtained from pregnancies not complicated by fetal hemolysis. As expected, there was a significant linear correlation between the degree of fetal anemia and the amniotic fluid optical density at 450 nm in rhesus-isoimmunized pregnancies. However, the values of optical density at 450 nm were widely scattered, thereby limiting their ability to predict accurately the severity of disease in these second-trimester pregnancies. In 25 of the patients, the value of optical density at 450 nm was determined at 6 to 16 days before fetoscopy. The severity of fetal anemia could not be predicted by the trend in optical density at 450 nm. These data suggest that the only reliable method to determine the severity of rhesus isoimmunization in the second trimester of pregnancy is the direct measurement of fetal hemoglobin.

Amniotic Fluid↗
PubMed2005

Persistent elevation of cell-free fetal DNA levels in maternal plasma after selective laser coagulation of chorionic plate anastomoses in severe midgestational twin-twin transfusion syndrome.

OBJECTIVE: This study was undertaken to determine whether laser thermocoagulation for twin-twin transfusion syndrome (TTTS) causes increased cell-free fetal DNA levels in maternal plasma, potentially as a result of placental injury. STUDY DESIGN: We enrolled 34 patients with twin pregnancies complicated by severe TTTS who underwent fetoscopic selective laser ablation of placental vascular anastomoses. Blood samples were drawn before and sequentially after the procedure. Fetal DNA in maternal plasma was quantified by polymerase chain reaction amplification of a Y-chromosome sequence. RESULTS: Compared with baseline, median elevations of fetal DNA levels were 0.8% at 30 minutes ( P = .32), 15.8% at 60 minutes ( P = .1), 179.5% at 24 hours ( P = .003), and 172.9% at 48 hours ( P = .003). Factors associated with increased fetal DNA levels at 24 hours after procedure included longer operation time, higher number of vessels ablated, and subsequent in utero fetal death ( P = .01, .04, and .04, respectively). CONCLUSIONS: Persistent elevation of fetal DNA levels in maternal plasma after laser ablation suggests that circulating fetal DNA could derive from placental injury. Plasma fetal DNA analysis may be an additional prognostic marker for fetal outcome after laser therapy.

DNA↗