PubMed · 12041466
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California. 1978. Prenatal testing.. https://pubmed.ncbi.nlm.nih.gov/12041466/
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Interphase fluorescence in situ hybridization (FISH) analysis can provide rapid preliminary analysis of chromosome aneuploidy from direct amniocyte and chorionic villus sample (CVS) preparations. Typically, interphase FISH is used in screening for numerical abnormalities of chromosomes X, Y, 13, 18, and 21. More recently, FISH probe sets became available for the subtelomeric region of each chromosome, allowing screening for terminal chromosome rearrangements. The purpose of the current study was to evaluate the use of dual-color interphase FISH analysis with chromosome-specific subtelomere probes for rapid prenatal diagnosis in 14 pregnancies from 12 different translocation carriers. Interphase FISH analysis was performed on direct CVS or amniocyte preparations from 12 reciprocal translocation and two Robertsonian translocation pregnancies with the appropriate chromosome-specific subtelomere probes for each chromosome involved in the translocation. Analysis of the interphase FISH probe signals predicted balanced or normal segregants in each case, thus rapidly excluding a chromosomally unbalanced segregant. Subsequent metaphase analysis showed normal karyotypes in seven fetuses and balanced translocations in the remaining seven. This series illustrates the utility of interphase FISH analysis with chromosome-specific subtelomere probes for rapid prenatal diagnosis in cases of parental reciprocal translocations and Robertsonian translocations.
Ring chromosomes arise following breakage in both chromosome arms and rejoining of the centric segment at the broken ends or by end-to-end fusion of the telomeres. The phenotype of ring carriers is unpredictable, and developmental abnormalities may occur even when the ring appears to be structurally balanced. This is believed to be due to mitotic instability from abnormal segregation and sister chromatid exchange in somatic cells. Although ring chromosomes usually arise as de novo events, transmittal from mosaic carriers to offspring sometimes occurs. In such cases, offspring with ring mosaicism in combination with a normal cell line remain unexplained. In this report, we used detailed molecular and cytogenetic analyses of a prenatally detected, inherited ring (19) to observe the behavior of the ring chromosome in culture, and to investigate the mechanism of inherited ring chromosome mosaicism.
INTRODUCTION: Fetal intracranial tumors are rare and their evolution is usually poor. With routine use of antenatal ultrasound imaging, a larger number of such tumors have been diagnosed. METHODS: During the period from January 1992 to January 2002, 18 cases diagnosed as intracranial tumors in the fetal stage were treated in the Neurosurgery and Obstetrics Departments of the Federal University of São Paulo and in the Fetal Medicine Service of the Maternity Hospital Santa Joana. RESULTS: The tumors most frequently found were those of the choroid plexus and teratomas. Out of those 18 cases, 11 patients presented with fetal hydrocephalus, and 5 of them, who were less than 34 weeks old (gestational age), underwent repeated cephalocenteses while awaiting better conditions for delivery. Two fetuses died while in utero before any intervention had taken place and 16 underwent craniotomy after birth. Twelve of those patients are still alive, 9 of whom are considered normal. The 3 others are slightly or moderately retarded.