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PubMed1983

Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin.

Oculocutaneous albinism was diagnosed prenatally by electron microscopic examination of fetal skin samples taken during fetoscopy at 20 weeks of gestation. Melanosome development in hair bulb melanocytes progressed no further than stage II, indicating a lack of melanin synthesis. In 4 age-matched control fetuses, numerous stage IV melanosomes, signifying active melanin synthesis, were identified. The diagnosis was confirmed after the pregnancy was terminated at 22 weeks. Examination of the fetal eye showed absence of pigment in the retinal epithelium and uvea at a stage when ocular melanogenesis would normally be active. This study shows that oculocutaneous albinism can be detected in the second trimester using similar techniques to those employed in the prenatal diagnosis of epidermolysis bullosa and ichthyosis.

Adult↗

PubMed1984

The transfer of cephradine across the placenta.

The transfer of maternally administered cephradine (1 g given intravenously) to the fetal circulation and amniotic fluid was investigated in 2 pregnant patients undergoing fetoscopy. Cephradine was detected in fetal serum between 23 and 72 minutes after injection and was present in therapeutic concentrations. Fetal serum levels appeared to peak at approximately 40-50 min. Amniotic fluid levels were rising during the sampling period of 97 min. Cephradine is transferred across the placenta and appears to be a suitable antibiotic for use in selected obstetric patients when penetration of the fetal compartment is desirable.

Amniotic Fluid↗

PubMed1985

Fetal blood chromosome analysis: some new indications for prenatal karyotyping.

Prenatal karyotyping using stimulated fetal blood lymphocytes was undertaken in 170 pregnancies between 16 and 36 weeks gestation for the following reasons--mosaicism or marker chromosomes found in amniotic fluid culture; a family history of X-linked mental retardation with fragile Xq28; fetal abnormalities detected ultrasonographically; late booking or amniotic fluid culture failure in patients with advanced age or balanced translocations; and twin pregnancies discordant for a chromosomal anomaly. Forty-one karyotypic abnormalities were detected (24%). These were: 45,X (7 cases), trisomy 13 (5 cases), trisomy 18 (6 cases), trisomy 21 (4 cases), twin pregnancy where one twin had trisomy 21 (1 case), supernumerary marker chromosome (3 cases, one of which occurred in a twin pregnancy), triploidy (3 cases), X-linked mental retardation with fragile site at Xq28 in males (6 cases), fetal erythroleukaemia (3 cases including 2 cases with Turner's), Fanconi's anaemia (1 case), unbalanced chromosome translocation 47,XY+der22,t(11;22) mat (1 case), mos 46,XX18p-/46,XX,-18+i(18q) (1 case), 46,XXdel(2q) (1 case), and 46,XYt(5;17) de novo (1 case). In fetuses at high risk of a chromosome aberration, a rapidly obtained karyotype is helpful and fetoscopy and fetal blood sampling are justified in the second or third trimester.

Amniotic Fluid↗

PubMed1983

The biology of human fetal skin at ages related to prenatal diagnosis.

It is the goal of the present article to review the state of knowledge of human skin development and to indicate some of the questions being approached in current studies of human fetal skin. Because of the breadth of the topic, the discussion will be limited to two ages during gestation that correspond to periods when samples of fetal skin or amniotic fluid cells (which in part are derived from the skin) are used to evaluate the condition of the fetus. These periods correspond to ages when amniocentesis (14-16 weeks) and fetoscopy accompanied by fetal skin biopsy (19-20 weeks) are performed.

Amniocentesis↗

PubMed1984

Gamma-glutamyl transferase activity in fetal serum, maternal serum, and amniotic fluid during gestation.

Gamma-glutamyl transferase activity was measured in fetal serum, maternal serum, and amniotic fluid in 173 pregnancies from 15 to 40 weeks' gestation. Fetal serum was obtained in the second trimester by fetoscopy and in the third trimester by umbilical cord puncture at caesarian section or vaginal delivery. Enzyme activities in maternal blood (10 IU/1, SD 2) and fetal blood (88 IU/1, SD 20) remained relatively constant throughout gestation, whereas in the amniotic fluid there was a significant decrease at term from the value in the second trimester (p less than 0.001). Electrophoretic separation of the enzyme showed one isoenzyme in the fetal blood and at least two in the amniotic fluid. The fetal isoenzyme had the same mobility as the major isoenzyme in the amniotic fluid.

Amniotic Fluid↗

PubMed1978

The prenatal diagnosis of genetic disorders.

Prenatal diagnosis has proven highly effective in assessing the status of fetuses at risk of all cytogenetic and of several biochemical and structural disorders with genetic etiologies. The original methodology, based on the cytogenetic and biochemical analysis of cultured amniotic fluid cells, has now been complemented by a wide variety of new techniques. These include several methods for fetal visualization (sonography, fetoscopy, x ray), sampling of fetal blood, and analysis of very small quantities of material. Additional approaches, based on these and other technologies, are likely to permit the prenatal diagnosis of an ever increasing number of genetic disorders. At the same time, the number of pregnancies monitored will increase as greater resources become available and as screening programs identify couples at risk of having genetically abnormal children prior to the birth of an affected child. Prenatal diagnosis is already a powerful means of preventing the birth of individuals with significant genetic defects, thereby sparing both individuals and society from the burdens that such disorders produce. In the future, it is likely to be even more effective.

Amniotic Fluid↗

PubMed1979

Ultrasonic assessment of the fetal spine before 20 weeks' gestation.

The ultrasonic appearance of the normal and abnormal fetal spine before 20 weeks' gestation was reviewed in 121 pregnances. A model was constructed to establish the mechanism of production in the various configurations seen. The relative roles of ultrasonography, alpha fetoprotein assay, and fetoscopy in the diagnosis of spina bifida are discussed.

Female↗

PubMedDate not supplied

Management of a case of twin-to-twin transfusion syndrome by a combined surgical approach.

OBJECTIVE: The management of a case of severe twin-to-twin transfusion syndrome at 24 weeks of gestation is presented, using a combined surgical and medical approach. METHODS: Operative fetoscopy was used to coagulate placental vessels crossing the intertwin membranes. Repeated intrauterine transfusions were used to correct recurrent anemia in the donor twin. Selective three-dimensional placental angiography and directed histological analysis were used to study the placenta after delivery. RESULTS: Resolution of twin-to-twin transfusion syndrome was obtained by coagulation of placental anastomoses, but was followed by recurrent anemia in the donor twin. This was successfully treated by serial intrauterine blood transfusions, and 2 healthy twins were delivered at 31 weeks of gestation. One artery-to-vein anastomosis was demonstrated to be the only communication left between the two circulations. CONCLUSIONS: This case illustrates the limitations of placental surgery in twin-to-twin transfusion syndrome and highlights the need for ultrasound and Doppler follow-up of these high-risk fetuses to indicate further treatment. Placental anastomoses can be overlooked by macroscopic examination and injection technique, but can be demonstrated by placental angiography.

Adult↗

PubMedDate not supplied

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↗

PubMedDate not supplied

Twin-twin transfusion syndrome: the 'Select' procedure.

OBJECTIVES: Twin-twin transfusion syndrome (TTTS) is associated with a high risk of perinatal morbidity and mortality. The condition results from intertwin vascular connections in the shared placenta. We report here a case of early, severe TTTS that failed to respond to serial amniocenteses and that was successfully treated by means of superselective laser coagulation. METHODS: A causative arteriovenous anastomosis was identified by means of prenatal obstetrical sonography, using color and spectral Doppler techniques. At fetoscopy, performed at 23 weeks' gestation, laser occlusion of only this connection was achieved. RESULTS: This therapeutic intervention resulted in rapid resolution of all evidence of TTTS and a successful pregnancy outcome, with subsequent delivery of 2 healthy infants at 33 weeks' gestation. CONCLUSIONS: The potentially fatal pathophysiology of TTTS was reversed by interruption of a single arteriovenous connection. We have termed this the sonographically evaluated, laser-endoscopic coagulation for twins ('Select') procedure.

Adult↗

PubMed2007

Fetoscopic laser surgery in 100 pregnancies with severe twin-to-twin transfusion syndrome in the Netherlands.

OBJECTIVE: In this prospective cohort study, we evaluated the initial results of fetoscopic laser surgery for severe second trimester twin-to-twin transfusion syndrome (TTTS) treated at our centre. METHOD: A total of 100 consecutive pregnancies with severe second trimester TTTS treated at our centre with selective fetoscopic laser coagulation of vascular anastomoses on the placental surface between August 2000 and November 2004 were included in the study. Perinatal survival was analysed in relation to Quintero stage. RESULTS: Median gestational age was 20 weeks at fetoscopy (range: 16-26) and 33 weeks at delivery (range: 18-40). Perinatal survival rate was 70% (139/200). The treatment resulted in at least one survivor at the age of 4 weeks in 81% of pregnancies. Perinatal survival was significantly higher when treatment was performed in the early Quintero stages (95% in stage 1, 76% in stage 2, 70% in stage 3, 50% in stage 4) (p = 0.02). CONCLUSION: Results of fetoscopic laser surgery for TTTS in our centre are similar to those in specialised centres in other countries. Diagnosis and treatment in the early Quintero stages resulted in significantly higher perinatal survival.

Female↗

PubMed1984

Plasma amino acids of the mid-trimester human fetus.

The amino acid concentrations in umbilical cord plasma taken at fetoscopy were measured from 12 fetuses between 18 and 29 weeks gestation. Concurrent maternal plasma levels were measured. Fetal plasma showed consistently higher concentrations of plasma amino acids with the ratios varying between 1.1:1 and 3:1 and the difference always reached statistical significance. It is suggested that these results reflect the in vivo situation of the mid-trimester human fetus.

Amino Acids↗

PubMed1987

Respiratory gases, acid-base balance and lactate concentrations of the midterm human fetus.

Respiratory gases, acid-base balance, and lactate and hemoglobin concentrations were measured in 14 fetal blood samples between 17 and 21 weeks of gestation. The samples were obtained at the time of fetoscopy performed for prenatal diagnosis. Results have been compared with two reference groups: (a) 4 patients in whom fetal cord blood sampling was performed at 32-36 weeks of gestation, and (b) 10 patients at the time of elective cesarean section, 35-39 weeks. PO2 and oxygen saturations were significantly higher and hemoglobin concentration lower in the mid-gestation fetus. Acid-base balance was not significantly different. There was a significant correlation between maternal and fetal hemoglobin concentrations. The oxygen affinity of fetal blood was not significantly different from that described for term fetuses with a oxygen saturation of less than 90%.

Acid-Base Equilibrium↗

PubMed1986

Fetal transfusion.

In the Rh-sensitized pregnancy, direct treatment of the fetus has been practiced for over two decades. Although Rh immune prophylaxis has markedly decreased the incidence of Rh sensitization, there are still fetal deaths due to this disease. Current management of the severe form of Rh disease includes serial transabdominal intrauterine transfusions, preterm delivery and intensive neonatal care. Heart failure in the fetus may be treated by administering medications to the mother. Ascites or pericardial effusion are easy to detect with ultrasound imaging. Digoxin and diuretics have been used to reverse the ultrasound evidence of fetal congestive heart failure. Recently, direct fetal intravascular transfusion by fetoscopy has proven effective. In some instances, hydrops fetalis appears to be reversed by such transfusions. The use of promethazine and plasmapheresis have only limited success in ameliorating the disease in the fetus.

Blood Transfusion, Intrauterine↗

PubMed1995

Color Doppler ultrasonography in the identification of communicating vessels in twin-twin transfusion syndrome and acardiac twins.

This study evaluates the role of color Doppler ultrasonography in the identification of the communicating placental vessels in pregnancies with twin-twin transfusion syndrome and acardiac twins. In 18 pregnancies with twin-twin transfusion syndrome and two with an acardiac twin, color Doppler studies of the placental vasculature were performed before fetoscopy for laser coagulation of the communicating vessels. In six cases of twin-twin transfusion syndrome the placental attachment of the intertwin membrane could be visualized. Pulsatile arterial blood flow was observed from the donor to the recipient twin that disappeared after laser therapy. In both cases of acardiac twins, one communicating vessel with pulsatile and another vessel with nonpulsatile blood flow in the opposite direction could be identified. Color Doppler imaging is unlikely to play a major role in assisting endoscopic laser separation of chorioangiopagus in patients with acute polyhydramnios, but it may prove to be useful in the early identification of pregnancies at risk of developing twin-twin transfusion syndrome.

Acute Disease↗

PubMedDate not supplied

Matrix metalloproteinases-2 and -9 and their endogenous tissue inhibitors in tissue remodeling after sealing of the fetal membranes in a sheep model of fetoscopic surgery.

OBJECTIVES: We studied collagen plugging of the fetoscopic access site in an in vivo fetal lamb model for fetoscopic surgery and possible role for matrix metalloproteinase (MMP)-2 and -9 and tissue inhibitors (TIMPs). METHODS: Eight ewes had fetoscopic balloon occlusion of the trachea as an experimental treatment for congenital diaphragmatic hernia between days 88 and 99 of gestation (term 145 days) with sampling of amniotic, allantoic, and tracheal fluid. Nonoperated cotwins were used as controls. The fetoscopy port was closed using a collagen plug. Ten days (range 9-12) later, fluids were sampled and plug sites collected for histologic analysis. Activity of MMP-2 (72 kDa, gelatinase A) and MMP-9 (92 kDa, gelatinase B) was determined in the fluids by zymography and secretion of TIMPs (27-30 kDa; TIMP-1, glycosylated TIMP-3 and TIMP-4, 24 kDa; unglycosylated TIMP-3, 21 kDa; TIMP-2) by reverse zymography and quantified by densitometric analysis. RESULTS: No pregnancy was complicated by amniorhexis or preterm labor. At cesarean, normal volumes of amniotic and allantoic fluid were present in all cases. Histology of the plug sites revealed good integration of the collagen plug without complete restoration of membrane integrity. MMP-2, MMP-9, and TIMPs were detected in all fluids. In the operated animals, significantly (P <.05) higher activity of MMP-9 was found in amniotic fluid, with lower concentrations of TIMPs in allantoic fluid (P <.01). Tracheal occlusion was associated with a significant (P <.02) increase in both MMP-2 and -9 in tracheal fluid. CONCLUSION: Collagen plugging of the fetoscopic access port sites in sheep resulted in functionally effective sealing of the fetal membranes. Changes in MMP-2, MMP-9, and TIMPs suggest an active remodeling of both the fetal lung and the fetal membranes.

Amnion↗

PubMed2004

[The initial results of fetoscopic laser treatment for severe second trimester twin-to-twin transfusion syndrome in the Netherlands are comparable to international results].

OBJECTIVE: Evaluation of the initial results of selective fetoscopic laser coagulation of placental blood vessels for severe second-trimester twin-to-twin transfusion syndrome in the Netherlands. DESIGN: Prospective cohort study. METHOD: Between August 2000 and December 31, 2002, 49 patients were included with severe second-trimester twin-to-twin transfusion syndrome. Treatment took place in the Leiden University Medical Centre and consisted of selective fetoscopic laser coagulation of anastomoses along the vascular equator on the placental surface. Follow-up was complete until six weeks after delivery. RESULTS: Median gestational age was 20 weeks at fetoscopy and 34 weeks at birth. Perinatal survival rate was 65% (64/98). The treatment resulted in at least one surviving child in 80% of pregnancies. CONCLUSION: The results of fetoscopic laser treatment for severe second-trimester twin-to-twin transfusion syndrome in the Netherlands are similar to the recent results in specialised foreign centres.

Cohort Studies↗

PubMed1990

Invasive fetal assessment in the antepartum period.

Access to the fetus as a true patient is a recent development in maternal-fetal medicine. We review the major invasive techniques currently available for establishing diagnoses and providing treatments to the fetus. These include fetoscopy, fetal blood sampling, fetal transfusions, and fetal shunts. Indications, techniques, and complications are discussed.

Biopsy↗