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Biomedical subjects

R Morotti

Publications and source records attributed to R Morotti.

11 recordsLinked to original sources

Invasive techniques for prenatal diagnosis: current concepts.

Recent dramatic advances have been made in our understanding of the genetic basis of diseases. One result will be an increase in the number of pregnant women considered potential candidates for prenatal diagnosis. At the same time, the invasive techniques by which fetal specimens for prenatal diagnosis are obtained have come under increasing scrutiny in the lay press. Practicing obstetricians must have sufficient knowledge of the benefits, risks, and limitations of these techniques to respond to patient inquiries. This article reviews the commonly used invasive prenatal diagnostic methods, including amniocentesis, chorionic villus sampling, and fetal blood sampling, as well as less widely available techniques, such as fetal skin and liver biopsies. Such relevant issues as indications, timing, and fetal risks are covered.

Amniocentesis↗

Hyperechoic fetal bowel: the perinatal consequences.

A number of publications have reported an association between the finding of hyperechoic fetal bowel on prenatal sonogram and disorders such as aneuploidy and cystic fibrosis. To define more precisely the significance of this finding, we systematically reviewed the published material on the subject. Based on a total of 357 reported cases, we documented a high prevalence of cystic fibrosis (25.6 per cent) and chromosome abnormality (12.4 per cent) associated with increased bowel echogenicity in the fetus. High rates of intrauterine growth retardation (14.9 per cent), fetal demise (9.0 per cent), and prematurity (15.3 per cent) were also found. The data were obtained from a population at high a priori risk for aneuploidy and included fetuses at 1 in 4 risk for cystic fibrosis reported in two studies. This increased the bias towards an adverse outcome. The rate of complications when a hyperechoic abdomen is noted in a low-risk fetal population has so far not been delineated. Although the high frequency of complications found is of concern and warrants investigation, extrapolation of these risk figures to a fetal population at low a priori risk may not be appropriate.

Abdomen↗

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↗

Hemolytic disease of the newborn due to rare alloantibodies.

In the period January 1975 to December 1981, serum samples from 9,525 pregnant women were examined for irregular red cell antibodies. Red cell antibodies were found in 719 cases (7.5%); anti-D antibodies were present in 532 cases (5.5% of the whole series), rare antibodies (other than anti-D) in 187 cases (2%). Seven pregnant women with rare red cell antibodies were followed at our Institute up to delivery. The clinical management, which was based on the diagnostic and therapeutic procedures of hemolytic disease of newborn due to anti-D antibodies, is reported in detail. The findings underline the importance of careful screening for irregular red cell antibodies in all pregnant women, both Rh-negative and Rh-positive, and confirm the validity of Rh clinical management also for moderate or severe immunizations due to rare red cell antibodies.

Bilirubin↗

Demonstration of communication between alveolus and interstitium in persistent interstitial pulmonary emphysema: case report.

Persistent interstitial pulmonary emphysema (PIPE) is an uncommon complication of premature infants suffering from hyaline membrane disease who have been treated with mechanical ventilation. The presumed mechanism for the development of the disease is via a break in the bronchioalveolar system that allows air to escape into the interstitium. We report a case of a 9-week-old child who developed the localized form of the disease and underwent a lobectomy. Immunohistochemical stains helped to demonstrate the communication between the airway system and interstitium. This report strengthens the theory that the disease develops from airway rupture at the alveolar level.

Cysts↗

[Fetal hemolytic disease in a patient immunized by six antibodies: diagnosis and treatment].

A case of severe haemolytic disease of the fetus due to six rare alloantibodies is described. In a pregnant women at 23 weeks gestation after the finding of a positive indirect Coombs test maternal antibodies have been precisely identified and titrated: anti-I: 1/23, anti-c: 1/64, anti-S: 1/16, anti-Fya: 1/128, anti-M: 1/64, anti-Jka: 1/32000. Fetal blood group, free and red blood cell adherent antibodies have been investigated on fetal blood samples obtained by means of cord centesis. A compatible donor has been found. Severe fetal anemia has been corrected by ultrasound guided intrauterine transfusions (one abdominal and two intravascular transfusions) with positive outcome of the pregnancy.

Adult↗

[Twin pregnancy with acephalic acardiac fetus. Anatomo-clinical description of 2 cases].

Two cases are reported of acardiac-acephalic twin pregnancy, a rare malformation of multiple gestations with large placental vascular anastomosis. In both cases, respectively 25 and 30 weeks of gestation, ultrasound scan revealed a first normal fetus and a nonviable twin without cardiac activity and head, but increasing in size at serial scans. The authors describe the obstetric management, the Rx details and the anatomo-pathological findings emphasizing the analogies between the two acardiac fetuses.

Abnormalities, Severe Teratoid↗