[The safety of mid-trimester amniocentesis].
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Biomedical subjects
Publications and source records attributed to B Goldman.
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A bladder neck obstruction was suspected after ultrasound investigation at 16 weeks' gestation. Evaluation of protein content in the amniotic fluid, fetal ascites, and fluid from the overdistended bladder supported the diagnosis. Bladder outflow obstruction in the second trimester of pregnancy was not associated with raised alphafetoprotein levels in the amniotic fluid and maternal serum.
The diagnosis of cystic fibrosis in utero is based on amniotic fluid analysis. False negative results of this method underline the importance of antenatal ultrasonography to detect intestinal obstruction in affected fetuses.
Determination of fetal lung maturity by measurement of the fluorescence polarization (P) value of the amniotic fluid at room temperature has become the method of choice in an increasing number of perinatal units because of its simplicity and relatively high predictive value. Nevertheless, its power to discriminate between cases with and without hyaline membrane disease (HMD) needs improvement. To this end, we assessed the discriminative power of the P value at the physiological temperature of 37 degrees C (P37) as compared with the power at 25 degrees C (P25). The study group consisted of 288 consecutive cases at risk for preterm delivery. Samples from all 288 cases were measured at 25 degrees C and samples from 112 of these were measured concurrently at 37 degrees C as well. HMD occurred in 27 infants of the total group, nine of whom belonged to the subgroup tested at both temperatures. When sensitivity was fixed at 100% the specificity of P37 was 97% as compared to 79% for P25 (p less than 0.001). The percentage of cases with infants free of HMD who had borderline P values was also significantly smaller: 1% vs 21%, respectively (p less than 0.001). Although data on more HMD cases are needed to establish the precise threshold of lung maturity for P37, we conclude that P37 is a considerably better discriminator for fetal lung maturity determination than P25.
Partial trisomy of the short arm of chromosome 4 is considered to be a rare chromosomal disorder. Its clinical and dermatoglyphic features tend to make it a clinically recognizable syndrome. This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various hand and foot malformations. Chromosomal studies showed her to be trisomic for the distal two-thirds of the short arm of number 4. The etiology of this chromosomal aberration in most instances is unknown, but may occur as a result of an unbalanced translocation in one of the parents as in the case reported here.
Dermatoglyphic studies were performed on 24 aborted human embryos in whom major chromosomal aberrations had been revealed by amniocentesis. Prints were obtained from the embryos by the Hollister method. An analysis was done using patterns on finger tips and the atd angle was measured in degrees. The Penrose classification was used to describe the locations of the various palm and foot patterns. Twenty-two out of the 24 embryos showed dermatoglyphic deviations that correlated well with the cytogenetic diagnosis. The fetuses had the following disorders: 7 with trisomy 21, 2 with trisomy 18, 2 with trisomy 13, 3 with structural autosomal aberrations and 10 had a sex-chromosome aberration.
Karyotype/phenotype correlations in six non-mosaic patients with dysgenetic ovaries and partial deletions of the X-chromosome (three patients with short arm, and three with long arm deletions) are presented and the pertinent literature is analysed. It would appear that functioning ovarian tissue is present more often in patients with a short arm deletion than in those with a deleted long arm. This may represent a difference in the strength of two sets of controlling factors, but it can also be related to break point position. This in turn may be misinterpreted due to the difficulty in distinguishing between terminal and interstitial deletions in the long arm. Stature may be a heterochromatic effect, but if specific genetic factors influencing stature exist, then they would appear to be situated mostly on the short arm of the X-chromosome, although some 'statural determinants' occur also on the long arm and could be located rather close to the centromere. Deletions of the short arm of the X-chromosome were almost always associated with some features of the Turner phenotype, and could possibly be related to a gene dosage effect.
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During a 3-year period, 377 samples of amniotic fluid, free of blood and meconium and obtained from a total of 471 patients, were examined by the fluorescence polarization technique to estimate fetal lung maturity. Fluorescence polarization values of 287 samples from normal and abnormal pregnancies were correlated with gestational age. A total of 272 pregnancies comprising cases complicated by toxemia, placental insufficiency, placenta previa, premature contractions, and diabetes mellitus, and including a control group of 37, were studied to discern the effect of such pathologic conditions on the usual decline of fluorescence polarization (FP) values with increasing gestational age. No complicated pregnancy had values significantly different from those of the control group, except for pregnancies complicated by diabetes mellitus. The threshold of fetal lung maturity as related to respiratory distress syndrome (RDS) was determined in correlation with the lecithin: sphingomyelin (L:S) ratio. FP values of 0.311 +/- .005 corresponded to an L:S ratio of 2.0. An FP value of 0.316 +/- .005 is recommended as a practical threshold related to the clinical outcome of the newborn as regards RDS. The technique was found reliable, simple, and accurate and has been of great value in the antenatal diagnosis of fetal lung maturity.
Streptococci seldom invade muscle in healthy people with intact integument. However, infection with another agent simultaneously may change this general observation. In a two-week period we encountered dual infections with group A, beta-hemolytic streptococci and a picornavirus in each of two hospitalized patients. Both were acutely ill; one died. Renal failure developed in the patient who survived and rhabdomyolysis was demonstrated in the patient who died. Picornavirus titer increases were demonstrated in the patient who survived, and viral inclusions in muscle cells were demonstrated by light microscopy in necropsy specimens and confirmed by electron microscopy in the second patient. We believe that streptococcal invasion of muscle may be facilitated during an outbreak of certain picornavirus infections.
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Two pairs of alleles, at the two loci of hexosaminidase (HEX), were found to segregate in an Arab inbred family: the normal and the mutant Tay-Sachs (TSD) alleles of HEX A, and the normal and a mutant allele of HEX B. Since the mutant HEX B is heat labile, no reliable identification of TSD genotypes can be obtained in its presence, as long as the proportions of HEX A and B are estimated by the routinely used heat-inactivation method. The genotypes may be correctly identified in such cases by separation of the two isoenzymes on ion-exchange chromatography, estimating their individual activities, and calculating the ratio between them. Of the nine genotype combinations possible with these two pairs of alleles, five have been identified in the reported family by this procedure.
Four cases of double monsters are reported, including a rare case of craniofacial duplication (diprosopus). Based on the findings observed, etiological factors of these malformations are discussed. We suggest that exogenous (environmental) factors such as habits, way of life or religious practices of certain populations can influence the development of double monsters.
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