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Biomedical subjects

M M Sandstrom

Publications and source records attributed to M M Sandstrom.

16 recordsLinked to original sources
PubMed2001

Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21.

We report an unbalanced translocation involving chromosomes 14 and 21 which presented as fetal ventriculomegaly at 33 weeks gestation. Second trimester ultrasound had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(14;21)(q12;q21). The unbalanced translocation in the fetus resulted in trisomy for 14pter-->q12 and monosomy for 21pter-->q21. Postnatal examination showed that the male infant had a cleft palate, but no cleft lip, and mild dysmorphic features. Postnatal MRI revealed bilateral and symmetric dilatation of the occipital horns, atria, and temporal horns of the lateral ventricles. Molecular cytogenetic techniques were used to delineate further the breakpoint on chromosome 14 to a site distal of the D14S1071 locus and the breakpoint on chromosome 21 to a region between D21S1918 and D21S1902. More precise definitions of chromosomal breakpoints in such clinical cases should provide more accurate prognosis for individuals with unbalanced karyotypes and assist in the identification of putative developmentally important genes.

Abnormalities, Multiple↗
PubMed2001

Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases.

Fluorescence in situ hybridization (FISH) was performed with probes specific for chromosomes 13, 18, 21, X and Y on 911 of 11123 (8.2%) amniotic fluid samples submitted to the present authors' laboratory for cytogenetic analysis over an 8-year period. Altogether 3516 hybridizations were performed with an interpretable FISH result on all chromosomes requested in 884/911 (97%) of cases. An uninformative FISH result occurred in 44 hybridizations among 27 cases (3%). Of a total of 89 karyotypically proven cases with aneuploidy that might have been detected by FISH, the overall detection rate was 84%. An inconclusive or incomplete FISH result occurred in 9/89 (10%) of these proven aneuploid cases. In the remaining 80 informative proven aneuploid cases, correct detection of aneuploidy was accomplished in 75/80 (94%) of samples. A false-negative result occurred in the remaining 5/80 (6%) of such informative cases. Eighteen cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Aside from these 18 cases, FISH allowed correct detection of normal disomy in 785/804 (98%) of such cases. An incomplete FISH result occurred in 18 normal disomic cases. There was a single possible 'false-positive' FISH result for chromosome 21. Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be a useful laboratory tool for rapid fetal aneuploidy screening during pregnancy. As with all clinical laboratory diagnostic tests, incomplete or inconclusive results (or even interpretive errors) occur in a small percentage of cases. Nevertheless, FISH results accompanied by other data and by appropriate counseling provide clinicians and patients with valuable information for clinical decision-making surrounding family planning and pregnancy management.

Amniocentesis↗
PubMed1996

Fluorescence in situ hybridization for the detection of aneuploidy from archived fetal cells.

BACKGROUND: In perinatal settings, fluorescence in situ hybridization has the potential to provide specific chromosome evaluation when full karyotype analysis is not possible because there are no dividing cells. CASE: Based on clinical features, cases of fetal and neonatal demise were selected for evaluation with chromosome-specific probes. Sources of nondividing cells included deparaffinated tissue sections, disaggregated tissue biopsies, and archived, Giemsa-stained slides. CONCLUSION: Diagnostic information was obtained by fluorescence in situ hybridization in three settings: 1) postmortem trisomy 21 identification from paraffin sections following unsuccessful tissue culture, 2) postmortem trisomy 18 confirmation in disaggregated cells from macerated fetal tissues, and 3) retrospective documentation of a cryptic deletion (22q-) in archived metaphase spreads. We encourage familiarity by obstetricians with fluorescence in situ hybridization for chromosomal assessment using archived fetal material.

Abnormalities, Multiple↗
PubMed1993

Characteristics of structural heart defects in trisomy 9 and their relationship to those in trisomy 13, 18, and 21.

The hearts from two live-born full-term infants with nonmosaic trisomy 9 (one complete trisomy 9, one partial trisomy 9) were studied after death. Both demonstrated conal and valvular anomalies associated with ventricular septal defects. These specific malformations are discussed in relation to published cases of trisomy 9 and the cardiac defects of other autosomal trisomies (13, 18, and 21).

Chromosomes, Human, Pair 13↗
PubMed1990

Early amniocentesis: report of 407 cases with neonatal follow-up.

Amniocentesis was performed for prenatal diagnosis in 407 pregnancies between the gestational ages of 11-14 weeks. The safety and accuracy of the procedure were compared with data obtained from collaborative studies of amniocentesis performed later in the second trimester. There were no differences observed with respect to accuracy, pseudomosaicism, or maternal-cell contamination related to the timing of the procedure. The fetal loss rate within 4 weeks of the procedure was 2.3%. Fetal losses appeared to be related to maternal complications such as bleeding and leakage of fluid that occurred within a day of the procedure. No major maternal complications were noted. Information regarding neonatal outcome, including pulmonary complications and congenital orthopedic postural deformities, was found to be similar to that in previous reports.

Adult↗
PubMed1988

Early amniocentesis for prenatal cytogenetic evaluation.

Early amniocentesis at 11-14 weeks gestation was evaluated in 100 consecutive patients to see how this technique compares with later amniocentesis. There were no complications as a consequence of the procedure or related pregnancy losses of chromosomally normal fetuses. Samples obtained from three (3%) patients showed insufficient cell growth; two of these patients elected a repeat procedure, which yielded a normal karyotype in each case. There were five abnormal karyotypes, one of which was a culture artifact; in the latter case, repeat amniocentesis at 15 weeks yielded a normal result. Of the 95 pregnancies with normal karyotypes, 94 were progressing normally at follow-up, and one patient elected pregnancy termination because of maternal indications. It appears that early amniocentesis may be an attractive alternative to traditional amniocentesis, in that it provides results at an earlier gestational age and may avoid certain disadvantages of chorionic villus sampling.

Amniocentesis↗
PubMed1979

Clinical specular microscopy. I. Optical principles.

The clinical specular microscope yields a corneal endothelial image. Depending on the slit width of the illumination source, a typical endothelial photomicrograph contains three or four distinct zones. The appearance of the boundary between the endothelial cell pattern and the adjacent dark zone, called the dark boundary, reflects the configuration of the endothelial cell-aqueous humor interface and provides important information about the posterior corneal surface.

Adult↗
PubMed1979

Clinical specular microscopy. II. Qualitative evaluation of corneal endothelial photomicrographs.

The clinical specular microscope shows the morphological appearance of the endothelium in normal and abnormal corneas. This instrument resolves the endothelial mosaic of the normal cornea into a quasiregular pattern of contiguous cells having well-defined cell boundaries. Cell size varies over a wide range in a number of disorders, and endothelial cells may assume shapes that are substantially different from their usual hexagonal appearance. Cell boundaries are dark and most commonly appear as a straight, narrow line. However, other types of cell boundaries, collectively referred to as doubled boundaries, have been encountered. Cell boundaries normally intersect in a manner that results in three angles of intersection, each approximately 60 degrees, but variations from this pattern are seen. A number of noncellular structures also can be seen in the endothelial zone.

Adolescent↗
PubMed1979

The human corneal endothelium in keratoconus: A specular microscopic study.

The corneal endothelium in 12 cases of keratoconus was examined with the clinical specular microscope. There appeared to be an increase in cellular pleomorphism with many cells considerably smaller than normal distributed throughout the endothelial cell population. There were also many large, elongated cells whose long axis showed a definite tendency to assume a similar directional orientation. The long axis of these cells seemed oriented toward the apex of the cone, and the cells appeared to have been stretched by the ectatic process. Many endothelial cells contained dark intracellular structures. Their significance is unknown. The single cornea in this series with a history of acute hydrops contained a localized area in which the endothelial cells were seven to ten times larger than normal. This suggests that rupture of the endothelium and Descemet's membrane, responsible for the acute edematous process, occurs at this site, and that the adjacent cells enlarged to fill the defect.

Cornea↗
PubMed1979

Epithelialization of the anterior chamber: clinical investigation with the specular microscope.

Four patients, each of whom had had an uncomplicated cataract extraction, were examined because of an apparent epithelialization of the anterior chamber. In each instance, the diagnosis was later verified histopathologically. The involved eye was photographed with the clinical specular microscope and the endothelial photomicrographs were analyzed. It was noted that considerable endothelial cell loss had occurred, as evidence by the larger size of the remaining cells. Endothelial cells were present but they were grossly abnormal well below the demarcation line visible with the slit-lamp biomicroscope. These in vivo observations support the thesis that damage to the corneal endothelium is a necessary factor for epithelial invasion of the anterior chamber.

Aged↗
PubMed1977

Prenatal genetic diagnosis.

More than 100,000 children are born in the U.S. each year with major congenital defects or genetic disorders, with or without mental retardation. Advances in prenatal diagnosis have now made it possible to detect an increasing number of these disorders in utero. Carrier detection is advised prior to pregnancy, rather than after the birth of a defective child, or during pregnancy itself. Patients have a right to know about their genetic risks and should have the freedom to exercise their options.

Amniocentesis↗
PubMed1975

In vivo photomicrography of the corneal endothelium.

A technique and apparatus for observing and photographing the corneal endothelium in vivo at a magnification of approximately times 200 is described. The method is suitable for animal experimentation and for diagnostic observation and clinical research in humans.

Aging↗