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R J Carpenter

Publications and source records attributed to R J Carpenter.

At least 73 records · Page 4Linked to original sources
PubMed1988

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly.

A fetus, subsequently shown to have the deletion 17p13, was detected at 30 weeks' gestation because of multiple anomalies and polyhydramnios on ultrasonography. The fetus died and was born at 34 weeks of gestation. Pathologic examination showed intrauterine growth retardation, double outlet right ventricle (a conotruncal cardiac defect), and thymic hypoplasia suggesting partial DiGeorge anomaly. To our knowledge, DiGeorge anomaly has not been reported previously in conjunction with del(17p) nor in the Miller-Dieker syndrome. Since this deletion is the largest deletion of distal 17p observed so far, one explanation for this association may be the presence of a gene on proximal 17p for neural crest development.

Adult↗
PubMed1988

Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa: application and limitations in the use of KF-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping technique.

Prenatal diagnosis is now possible for junctional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1/7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.

Adult↗
PubMed1988

Methylergonovine-induced hypertonus in term pregnancy. A case report.

The administration of methylergonovine maleate to a patient at term is rare. A patient received the drug at 36 weeks' gestation, with subsequent development of fetal distress secondary to uterine tetany. Treatment with terbutaline and magnesium sulfate was unsuccessful in alleviating the uterine hypertonus, necessitating cesarean section.

Adolescent↗
PubMed1988

Placenta percreta: ultrasound diagnosis and conservative surgical management.

Placenta percreta is a rare yet serious complication of pregnancy. Only an occasional case has been managed conservatively without hysterectomy. We report a case of placenta percreta managed conservatively at 16 weeks' gestation by oversewing the uterine defect created by the protruding placenta and continuing the pregnancy for an additional eight weeks. The diagnosis of placenta percreta was made again at 26 weeks' gestation by ultrasonography, and a placenta increta to within 1 mm of the serosa was confirmed histologically. This case is added to the five cases of placenta percreta managed by conservative operative therapy.

Adult↗
PubMed1988

Percutaneous umbilical cord blood sampling in the evaluation of fetal platelet counts in pregnant patients with autoimmune thrombocytopenia purpura.

Autoimmune thrombocytopenia purpura in pregnancy is associated with fetal thrombocytopenia. Twenty-one patients with autoimmune thrombocytopenia purpura (22 fetuses) underwent 26 umbilical cord punctures to assess the fetal platelet count. Blood could not be obtained from one fetus. Thrombocytopenia (less than 150,000/microL) was found in five cases, but in none was it of sufficient degree to preclude vaginal delivery. Persistent fetal bradycardia necessitating emergency cesarean delivery occurred in two cases. Umbilical cord puncture was found to be technically more difficult in the term fetus than in the second-trimester fetus studied in previous investigations.

Adolescent↗
PubMed1987

The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.

We report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low-set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular septal defect, a right-sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X-linked recessive and may overlap with the Smith-Lemli-Opitz syndrome.

Abnormalities, Multiple↗
PubMed1987

Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.

Prenatal diagnosis was performed for 47 pregnancies with 1 in 4 risk of cystic fibrosis, including 7 cases analyzed with linked DNA markers, 16 cases analyzed by microvillar intestinal enzyme testing, and 24 cases where both methods of testing were attempted. DNA was obtained by chorionic villus sampling in 10 cases and by amniocentesis in 21 cases, and diagnosis was based on analysis with the tightly linked DNA markers D7S8 and met. DNA analysis using these probes was fully informative in 74.4% of 90 couples with 1 in 4 risk. In 18 cases where both DNA results and microvillar intestinal enzyme data were diagnostic, there was agreement regarding the predicted status of the fetus. No adequate diagnosis was achieved in two cases where both diagnostic tests were attempted. Outcome is known for 24 pregnancies including 10 where DNA analysis was diagnostic, and no errors in diagnosis were detected. Prenatal diagnosis of cystic fibrosis using DNA markers is highly informative and accurate, but microvillar intestinal enzyme analysis remains a valuable part of a complete diagnostic program.

Alkaline Phosphatase↗
PubMed1987

The use of fetal neuromuscular blockade during intrauterine procedures.

Advances in fetal therapy have led to the utilization of such techniques as intravascular transfusion of the Rh-affected fetus, bladder shunt placement in the fetus with obstructive uropathy, and percutaneous umbilical blood sampling. Fetal movement makes these procedures technically more difficult while increasing the risk of fetal injury. However, maternal sedation rarely results in adequate suppression of fetal activity. Thus we tested the sedative effects of intramuscular d-tubocurarine (3 or 1.5 mg/kg) or pancuronium bromide (0.3 mg/kg) injected into the fetal gluteal region under ultrasound guidance in conjunction with 70 invasive in utero procedures. Short-term paralysis of the fetus was induced in all cases. No deleterious effects of this technique were noted on initial examination of the neonates. Neuromuscular blockade was found to be a very useful adjunct to both diagnostic and therapeutic procedures involving the fetus.

Adult↗
PubMed1987

Umbilical cord hematoma secondary to in utero intravascular transfusion for Rh isoimmunization.

Direct intravascular transfusion of the fetus with Rhesus isoimmunization is becoming more widespread as the procedure of choice in the treatment of this disease. To date no direct complications of this new procedure have been reported. The authors describe a case of cord hematoma with resulting fetal compromise secondary to venipuncture of the umbilical vein. Doppler studies and review of the fetal heart rate tracings pointed toward umbilical artery vasospasm secondary to the cord hematoma as the etiology of the transient fetal bradycardia.

Adult↗
PubMed1987

Prenatal diagnosis and postnatal management of critical aortic stenosis.

Fetal echocardiography has yet to have an impact on the treatment of congenital heart disease. Critical aortic valve stenosis was diagnosed by echocardiography before birth in a 35 week gestation fetus. The risks to the fetus and mother associated with prolonged rupture of membranes prompted their transport to a hospital with cardiac surgical and high-risk perinatal facilities. Prenatal and postnatal echocardiographic findings agreed regarding the diagnostic criteria for critical aortic stenosis and primary forms of cardiomyopathy were excluded. Results of fetal Doppler examination were consistent with valvular aortic stenosis and excluded mitral regurgitation. Determination of the left ventricular size excluded ventricular hypoplasia. The infant was delivered by cesarean section and underwent successful emergency aortic valvotomy at 12 h of age. Fetal echocardiography, in combination with a multidisciplinary postnatal approach, can be used in the successful treatment of a severe form of congenital heart disease.

Aortic Valve Stenosis↗
PubMed1986

The Perlman familial nephroblastomatosis syndrome.

In 1973, Perlman et al described a familial syndrome of bilateral renal hamartomas with or without nephroblastomatosis, macrosomia, islet cell hypertrophy, unusual facies, and early lethality. Two additional sibs were recently reported by Neri et al [1984]. We report on two sibs with polyhydramnios, fetal ascites, and abdominal muscular hypoplasia, visceromegaly, and subsequent development of Wilms tumor in one of them. Delineated features of this syndrome include visceromegaly, macrosomia, renal hamartomas, nephroblastomatosis, cryptorchidism in males, unusual facial appearance, polyhydramnios, fetal ascites, and Wilms tumor but do not include hemihypertrophy, omphalocele or umbilical abnormalities, aniridia, or other conditions known to be associated with Wilms tumor. This condition should be considered primarily in the differential diagnosis of fetal ascites without hydrops and possibly in the differential diagnosis of familial Wilms tumor, polyhydramnios, congenital hepatomegaly, or nephromegaly.

Adult↗
PubMed1986

Doppler echocardiography in the diagnosis and management of persistent fetal arrhythmias.

Thirteen fetuses with persistent arrhythmias underwent combined noninvasive echocardiographic evaluation utilizing M-mode, two-dimensional and pulsed Doppler echocardiography. This group (Group A) was compared with 14 fetuses in which only two-dimensional and M-mode echocardiographic evaluations were performed (Group B). In both groups correct prenatal interpretation of the arrhythmia was confirmed by postnatal electrocardiograms in all surviving fetuses. Although Doppler echocardiography was not more sensitive than M-mode echocardiography in the interpretations of the arrhythmia, Doppler tracings of sufficient quality to analyze rate and rhythm were easier to obtain in all cases and provided additional information about valvular incompetence and the functional state of the fetal heart. Cardiac malformations and hydrops fetalis were commonly associated with persistent arrhythmias. Congenital heart disease occurred frequently (6 of 11) with complete atrioventricular (AV) block. Pulsed Doppler echocardiography defined the AV contraction sequence, atrial and ventricular rates and AV valve insufficiency, allowing rapid interpretation of fetal arrhythmias.

Arrhythmias, Cardiac↗