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PubMed1986

Rh disease: intravascular fetal blood transfusion by cordocentesis.

A total of 130 cordocenteses, including 96 intravascular fetal blood transfusions, were performed in 21 pregnancies complicated by red cell isoimmunization. Transfusions were commended at 18-34 weeks' gestation and repeated up to 7 times, at 1- to 4-week intervals. The volumes of transfused blood were 5-150 ml, the haematocrits 62-88% and the rate of transfusions 1-15 ml/min. The pretransfusion fetal haematocrits were 5-34% and the posttransfusion ones 28-60%. Final transfusions were given at 32-36 weeks' gestation. Of the 21 pregnancies, 18 delivered at 31-39 weeks and 3 are continuing; 1 baby was stillborn and 17 are alive and well.

Blood Transfusion, Intrauterine↗
PubMed1992

Fetal medicine.

Fetal therapy continues to be an exciting yet controversial field. In utero treatment of a variety of fetal conditions is discussed: parvovirus B19 infection, fetal thyroid dysfunction, fetal ovarian cysts, twin-twin transfusion syndrome, and fetal hemolytic disease. Fetal surgery continues to be controversial. Despite considerable publicity, fetal surgery appears to be rarely, if ever, truly indicated. A new area of fetal therapy, ie, antenatal transplantation of fetal liver stem cells, is discussed.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1991

The antenatal diagnosis of congenital heart disease using fetal echocardiography: is color flow mapping necessary?

Doppler color flow mapping is widely used in fetal echocardiography. We studied the impact of color flow mapping on fetal cardiac diagnosess. Between January 1, 1989 and June 30, 1990, we performed 854 fetal echocardiograms on 776 fetuses. Color flow mapping was used in 45 of 48 fetuses diagnosed as having cardiac abnormalities. Scans were reviewed to assess how color flow mapping influenced the ultimate diagnoses. Color flow mapping was essential to the correct anatomical diagnoses in 13 fetuses (29%), helpful but not essential in 21 (47%), and added little to two-dimensional examination alone in 11 (24%). It was essential in determining the course and flow direction in the great vessels when outflow obstruction was present or with transposition, and it was helpful but not essential in locating small jets of atrioventricular valve regurgitation. It was not helpful when the anatomical abnormalities were clearly identified from two-dimensional examination alone. We conclude that color flow mapping is helpful in the delineation of anatomical diagnoses in three-quarters of cases of fetal heart disease, particularly when the great vessels are abnormal. It may speed examinations by directing pulsed Doppler sampling. We did not find it essential to the proper recognition of anatomically abnormal hearts.

Echocardiography, Doppler↗
PubMed1986

[Antenatal diagnosis of congenital heart diseases and fetal arrhythmias].

Fetal echocardiographic, electrocardiographic, and pulsed Doppler ultrasonic examinations were performed to detect congenital heart anomalies and fetal arrhythmias antenatally, from April 1980 to March 1985. In nineteen subjects, these techniques revealed premature atrial contractions (PAC) in five fetuses, PAC and blocked PAC in two, PAC and premature ventricular contraction (PVC) in one, PAC, blocked PAC and PVC in one, sinus bradycardia in one, congenital complete atrio-ventricular block in one, atrial septal defect with PAC and PVC in one, fetal unilateral hydronephrosis with PAC and PVC in one, complicated heart anomalies with dilated colon in one, single atrium and ventricle with esophageal and anal atresiae in one, complicated heart anomalies with encephalocele and single umbilical artery in one, and asymmetrical septal hypertrophy in one, antenatally. In nine out of fifteen cases with fetal arrhythmias, the arrhythmia resolved within the first month of life. Sustained arrhythmias occurred in three cases. In three cases with fetal arrhythmias, in utero therapies with Coenzyme Q10(CoQ10) were performed, and anti-arrhythmic effects of CoQ10 recognized. Deaths occurred in three cases with complicated heart anomalies.

Arrhythmias, Cardiac↗
PubMed1997

[Diagnosis of lysosomal storage diseases with fetal presentation].

In metabolic diseases with fetal presentation, lysosomal storage disorders represent a fairly homogeneous group. Hydrops fetalis or ascites is the main but non specific symptom. The relative frequency of lysosomal storage diseases in this context is not well known and probably underestimated. They represent 1.4% in a large retrospective series. The contribution of the placental and fetal examination in their diagnosis is emphasized. The biological investigations required for their accurate pre and postnatal diagnosis are described. The precise identification of the lysosomal defect is necessary to propose an early prenatal diagnosis by chorionic villi biopsy in further pregnancies.

Fetus↗
PubMed1996

Fetal nigral transplantation as a therapy for Parkinson's disease.

Fetal nigral grafts have been demonstrated to survive, secrete dopamine, form synaptic connections with host neurons, and reverse behavioral disturbances in experimental models of parkinsonism. These findings suggest that fetal nigral grafting may be a useful therapy for patients with Parkinson's disease (PD). Recent preliminary clinical trials of transplantation in PD have shown increased striatal fluorodopa uptake (measured using positron emission tomography) and clinical benefit in some patients. An autopsy study of one patient who had received fetal nigral transplants demonstrated robust graft survival and striatal reinnervation, with no evidence of host-derived sprouting or immune rejection. The development of a successful clinical transplantation program depends on a careful consideration of the transplantation variables and the related long-term risks and benefits to the patients.

Female↗
PubMedDate not supplied

Development of the human striatum: implications for fetal striatal transplantation in the treatment of Huntington's disease.

Fetal neural transplantation has recently been demonstrated to ameliorate motor and other behavioral deficits in animals models of Huntington's disease, and reconstruct many of the damaged striatal circuits. However, there has been significant variability in the histological appearance of these grafts, most likely related to differences of the regions of dissection of the donor tissue. Selective dissection and transplantation of the lateral ventricular eminence in rodents has resulted in grafts consisting of primarily striatal-like tissue. This data, combined with data from our own and other laboratories has led to a description of the development of human striatum, with a particular emphasis on the relevance of human striatal development to the field of fetal tissue transplantation for the treatment of Huntington's disease. If the goal of transplantation is to graft GABAergic striatal projection neurons, it is our impression that optimal grafting results will occur when transplants are derived from the lateral ventricular eminence and the lateral aspect of the body of the ventricular eminence anterior to the foramen of Monro. Optimal results are likely to occur when donor ages range from Stage 19 to 23, with possible graft success when donor age extends to as late as postovulatory week 22.

Fetal Tissue Transplantation↗
PubMed2004

Integrating fetal neural transplants into a therapeutic strategy: the example of Huntington's disease.

Fetal neural transplants have become clinically relevant over the past 15 years for two major neurodegenerative diseases, namely Parkinson's disease and Huntington's disease. It is therefore timely to consider how this neurosurgical procedure can integrate the therapeutic armamentarium, what can be expected of it, and what cannot. We use here the example of Huntington's disease to show what fetal neural transplants may uniquely offer for that disease. Up to very recent times, Huntington's disease has been one special example of those neurodegenerative diseases against which neurologists feel totally helpless. This has all changed today and, although results are essentially still to come, one can foresee the mobilization of very large scientific and medical forces against this disease, with definite steps forward in terms of physiopathology and a better view of the therapeutic challenges. While defining the role that fetal neural transplantation may play in meeting these challenges, we also try to show rationales and developments for all types of treatments attempted or suggested so far, as well as their limits and, when relevant, informative failures. The date of writing this review needs to be noted, because the rapid accumulation of data on molecular mechanisms of Huntington's disease pathogenesis and the increasing numbers of clinical trials do not allow much time for the ink of a review to dry.

Brain Tissue Transplantation↗
PubMed2003

Fetal and neonatal neurologic case histories: assessment of brain disorders in the context of fetal-maternal-placental disease. Part 1: Fetal neurologic consultations in the context of antepartum events and prenatal brain development.

The pediatric neurologist can contribute to a fetal diagnostic service that includes the maternal-fetal specialist as well as placental and pediatric pathologists, neonatologists, neurosurgeons, geneticists, and other pediatric subspecialists. Selected case histories of patients who presented to our fetal neurology service illustrate the wide spectrum of disease entities that are highly dependent on the time during gestation, location of brain injury, and the direct as well as indirect effects of fetal/maternal/placental disease processes on brain maturation. The pediatric neurologist has the opportunity to provide an important consultative role, bridging prenatal to neonatal life and integrating medical and ethical concerns for the child in the context of the family.

Adolescent↗
PubMed2003

Concordant fetal hemoglobin response to hydroxyurea in siblings with sickle cell disease.

Fetal hemoglobin (HbF) level and the HbF responses to hydroxyurea (HU) vary among patients with sickle cell disease and are, at least in part, genetically regulated. We hypothesized that siblings with sickle cell disease are likely to share the same parental beta-like globin gene clusters with their cis-acting regulatory sequences and therefore, if regulation of this response is linked to the beta-globin gene cluster, might have concordant HbF responses to HU. Accordingly, we studied 26 families (30 sib pairings), 20 with sickle cell anemia (three families had three siblings) and 6 families with HbS-beta-thalassemia (one family had three siblings, and one family consisted of monozygotic twins), to see if siblings with sickle cell disease had discordant or concordant changes in HbF during HU treatment. Intraclass correlation coefficients (r) showed a high, positive correlation between sibs for HbF levels before and during HU treatment and a concordant change in HbF response from baseline to treatment-associated levels. Changes in mean corpuscular volume (MCV) paralleled HbF levels, while the expected correlations between treatment-associated fall in leukocyte count and increase in MCV were also present. Our results provide additional evidence that some elements that regulate HbF expression are linked to the beta-globin gene cluster.

Adolescent↗
PubMedDate not supplied

[The first homotopic fetal homograft of the striatum in the treatment of Huntington's disease].

Fetal brain grafting has been used successfully in the restoration of striatal function in rat and non human primate models of Huntington's disease (HD). This is a report of the first clinical trial of this procedure applied to a 37 year old Mexican female with moderate to severe HD of 9 years evolution. The two striata from a 13 week-old human fetus were homotopically transplanted to 4 cavities in the ventricular wall of the right caudate nucleus. The months after surgery, her neurologic and neuropsychologic evaluations revealed the stabilization of many of her signs and most neuropsychologic parameters, a moderate improvement of her choreic movements, predominantly in the face, of her ability to define and express ideas in oral and written form, and of her articulatory agility, as well as of some activities of her daily life and social behavior. There was a slight deterioration of her gait and posture. Her saccadic system and optokinetic nystagmus, and her visuospatial and visuoperceptual functions were deteriorated.

Adult↗
PubMed1987

Amniotic fluid osteocalcin concentrations in pregnancies uncomplicated by fetal bone disease.

Osteocalcin is the major noncollagenous bone protein. Serum osteocalcin concentrations increase in conditions when bone turnover is increased, reflecting enhanced osteoblastic activity. The presence of osteocalcin in amniotic fluid (AF) has not been reported. We undertook this study to determine if osteocalcin is present in AF and to establish standards for AF osteocalcin concentrations, to be used in pregnancies at risk for diseases with increased fetal bone turnover. One hundred and thirty-one samples of AF from 15 to 43 weeks gestation were analyzed for osteocalcin by a radioimmunoassay detecting greater than or equal to 0.1 ng/ml, with a coefficient of variation of 6%. Osteocalcin measured in AF had the same gel-filtration characteristics as serum osteocalcin and the standard curves for serum and AF osteocalcin were parallel. Indications for amniocentesis were genetic study (n = 15) and fetal lung maturation (n = 116). None of the pregnancies studied produced an infant with bone mineral disorder. In 67% of the AF samples, osteocalcin was undetected; in 95% of the samples the concentration was less than 2.4 ng/ml. Concentrations of AF osteocalcin did not correlate with gestational age or birthweight, and were lower than the reported concentrations in cord serum or maternal serum. Thus normal amniotic fluid osteocalcin concentrations are less than 2.4 ng/ml; we speculate that its elevation in fetal bone disorders may provide a genetic counselling tool.

Amniotic Fluid↗
PubMed1999

Prenatal diagnosis of lysosomal storage diseases using fetal blood.

Lysosomal storage diseases are a rare but significant cause of non-immune hydrops fetalis (NIHF). In 17 cases of NIHF detected by ultrasound, the activity of five lysosomal enzymes was measured in leukocytes or plasma of 1 ml of fetal blood obtained by cordocentesis. By this approach seven lysosomal storage diseases known to present with hydrops fetalis can be diagnosed. In this series one case of mucopolysaccharidosis VII (M. Sly) was diagnosed at 20 weeks' gestation. The other samples allowed the establishment of reference ranges for lysosomal enzymes associated with NIHF in fetal blood. We conclude that, also in view of the poor prognosis of lysosomal storage diseases presenting with hydrops fetalis, the use of fetal blood for the early and fast biochemical diagnosis of these diseases is a valuable supplement in the diagnostic work-up and the management of NIHF.

Adult↗
PubMed1993

The prognostic value of hemoglobin A1c in predicting fetal heart disease in diabetic pregnancies.

OBJECTIVE: To evaluate detailed fetal echocardiography for predicting congenital heart disease in overt diabetic pregnancies. METHODS: Overt diabetic gravidas with initial hemoglobin A1c (HbA1c) at or above 8.5%, a family history of congenital heart disease, or fetal cardiac anomaly suspected on screening sonography were referred to a pediatric cardiologist for detailed fetal echocardiography. After 7 years, the results of the protocol were reviewed retrospectively. The sensitivity and specificity of the initial HbA1c in predicting congenital heart disease were assessed. RESULTS: During the study period, 193 patients received care in the diabetes and pregnancy service. Sixty-four received fetal echocardiography, 47 because of initial HbA1c levels at or above 8.5% and 17 for other indications. Twenty fetuses had major anomalies, eight of which were cardiac (40%). Six of the cardiac anomalies had been studied by fetal echocardiography, and four were diagnosed correctly. The initial HbA1c was not different among pregnancies with major anomalies, cardiac anomalies, or no anomalies. No malformations were noted in patients with normal initial HbA1c values. The overall sensitivity of the protocol for identifying congenital heart disease was 50% (four of eight) and specificity was 54% (90 of 167). Detailed fetal echocardiography had a sensitivity of 66% (four of six) and a specificity of 100% (58 of 58) for correctly identifying fetal congenital heart disease. CONCLUSIONS: No cases of congenital heart disease were observed in patients with a normal initial HbA1c value. Among patients with abnormal HbA1c values, no critical level of glycohemoglobin was identified that provided optimal predictive power for congenital heart disease screening. We recommend detailed fetal echocardiographic imaging in all patients with initial HbA1c levels above the upper limit of normal of 6.1%.

Diabetes Mellitus, Type 1↗
PubMed2004

Microvascular endothelial cell activation is present in the umbilical placental microcirculation in fetal placental vascular disease.

OBJECTIVE: Fetal growth restriction is associated with an abnormal umbilical artery Doppler study. A vascular disease is present in the fetal umbilical placental microcirculation. We hypothesized that the local production of factors that are injurious to microvessel endothelium is responsible for this vascular disease and that endothelial cell activation is a feature of this. Because the expression of the cell adhesion molecules is associated with endothelial cell activation, we isolated endothelial cells from the microvessels of the umbilical placenta and examined them for evidence of gene expression of cell adhesion molecules. STUDY DESIGN: Endothelial cells from the microcirculation of human placenta were isolated and purified with collagenase digestion and extraction with superparamagnetic beads that were coated with monoclonal antibody against CD31. Microvessel endothelial cells were isolated from the placentae of 13 women with a normal pregnancy and delivery at term and 10 placentas with umbilical placental vascular disease that was defined by abnormal umbilical artery Doppler study. Total RNA was extracted from isolated endothelial cells. The messenger RNA expressions of cell adhesion molecules (intercellular adhesion molecule-1, vascular cell adhesion molecule-1, and platelet endothelial cell adhesion molecule-1) were assessed by semiquantitative reverse transcription-polymerase chain reaction. RESULTS: Microvessel endothelial cells from the fetal placentae of pregnancies that were complicated by umbilical placental vascular disease showed an enhanced expression of intercellular adhesion molecule-1 messenger RNA (2.12+/-0.45 vs 0.92+/-0.25) and platelet endothelial cell adhesion molecule-1 messenger RNA (4.29+/-0.87 vs 2.41+/-0.42) in comparison to normal pregnancies. There was no significant difference in expression of vascular cell adhesion molecule-1 messenger RNA (1.55+/-0.37 vs 1.68+/-0.38). CONCLUSION: We have shown that vascular disease in the fetal umbilical placental circulation is associated with an increase in the expression of intercellular adhesion molecule-1 and platelet endothelial cell adhesion molecule-1 by microvessel endothelial cells. We postulate that locally released factors cause injury and activation to microvessel endothelial cells. In this regard, the process in the fetus is similar to that of atherothrombotic vascular disease of later life.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of the hemodynamics of fetal renal disease by color Doppler ultrasound.

OBJECTIVE: Hemodynamic analysis of the fetal renal artery elucidated the function of the renal glomerulus and renal tubule in normal growth fetus and was weighed against fetal renal disease. DESIGN: The subjects were fetuses from pregnant women who gave informed consent. There were 6 cases of polycystic kidney, 4 cases of hydronephrosis and 33 cases of fetuses presenting with normal growth. A longitudinal study was performed for normal growth fetuses. Using maximum systolic velocity (V(max)), pulsatility index (PI) and resistance index (RI), the blood flow was measured initially at 20-24 weeks of pregnancy and every 4 weeks thereafter. The measurement was performed 5 times in total. Also, for fetal renal disease, the measurement was performed using the same indexes. RESULTS: In 2 cases of polycystic kidney, which led to death due to postpartum afunctional kidney, V(max) indicated the lower level of less than mean -1.5 SD. In 1 case of single hydronephrosis, the single afunctional kidney was observed postpartum due to blood flow disruption. In 7 cases of normal renal function after birth, it indicated the lower level in some gestational ages but was generally in the normal range. CONCLUSIONS: Using indexes to evaluate the glomerulus and renal tubule of fetal renal disease, mean -1.5 SD of V(max) can be considered to be the lower limit in the normal range and expected to be an important factor for the final outcome.

Female↗
PubMed2003

Effects of 5-aza-2'-deoxycytidine on fetal hemoglobin levels, red cell adhesion, and hematopoietic differentiation in patients with sickle cell disease.

Fetal hemoglobin (HbF) decreases polymerization of sickle hemoglobin (HbS) and improves outcomes in sickle cell disease (SSD). Therefore, a therapeutic goal in SSD is pharmacologic reactivation of HbF. Silencing of the gamma-globin (HbF) gene is associated with DNA methylation. The cytosine analog 5-aza-2'-deoxycytidine (decitabine) hypomethylates DNA by inhibiting DNA methyltransferase. We examined if subcutaneous decitabine could increase HbF levels and improve SSD pathophysiology without cytotoxicity. Eight symptomatic SSD patients resistant or intolerant of standard treatment with hydroxyurea received decitabine 0.2 mg/kg subcutaneously 1 to 3 times per week in 2 cycles of 6-week duration. Treatment decreased neutrophils and increased mean HbF (6.5% to 20.4%, P <.0001) and mean total hemoglobin (76 to 96 g/L [7.6 to 9.6 g/dL], P <.001). Features of vaso-occlusive crisis pathophysiology such as red cell adhesion, endothelial damage, and coagulation pathway activity significantly improved. gamma-Globin gene promoter methylation decreased, and platelets and the proportion of megakaryocytes and erythroid cells in the marrow increased without a decrease in marrow cellularity, consistent with a DNA hypomethylating, noncytotoxic mechanism of action. Weekly subcutaneous decitabine produces cumulative increases in HbF and total hemoglobin through a noncytotoxic mechanism of action. Chronic dosing and sustained increases in hemoglobin F and total hemoglobin levels may be possible. Further studies in SSD and thalassemia are indicated.

Adult↗