Incidence of sex chromosome aneuploidy in a prenatal population: 27-year longitudinal study in Northern Italy.

OBJECTIVES: The availability of cell-free (cf) DNA as a prenatal screening tool affords an opportunity for non-invasive identification of sex chromosome aneuploidy (SCA). The aims of this longitudinal study were to investigate the evolution and frequency of both invasive prenatal diagnostic testing, using amniocentesis and chorionic villus sampling (CVS), and the detection of SCA in cfDNA samples from a large unselected cohort in Northern Italy. METHODS: The results of genetic testing from CVS and amniotic fluid samples received from public and private centers in Italy from 1995 to 2021 were collected. Chromosomal analysis was performed by routine Q-banding karyotype. Regression analyses and descriptive statistics were used to determine population data trends regarding the frequency of prenatal diagnostic testing and the identification of SCA, and these were compared with the changes in indication for prenatal diagnostic tests and available screening options. RESULTS: Over a period of 27 years, there were 13 939 526 recorded births and 231 227 invasive procedures were performed, resulting in the prenatal diagnosis of 933 SCAs. After the commercial introduction of cfDNA use in 2015, the frequency of invasive procedures decreased significantly (P = 0.03), while the frequency of prenatal SCA detection increased significantly (P = 0.007). Between 2016 and 2021, a high-risk cfDNA result was the indication for 31.4% of detected sex chromosome trisomies, second only to advanced maternal age. CONCLUSIONS: Our findings suggest that the inclusion of SCA in prenatal cfDNA screening tests can increase the prenatal diagnosis of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Complex variant of Philadelphia translocation involving chromosomes 9, 12, and 22 in a case with chronic myeloid leukaemia.

Chronic myeloid leukemia (CML) is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation of the Philadelphia (Ph) chromosome. In 2-10% of CML cases, the fusion gene arises in connection with a variant translocation, involving chromosomes 9, 22, and one or more different chromosomes; consequently, the Ph chromosome could be masked within a complex chromosome rearrangement. In cases with variant Ph translocation a deletion on der(9) may be more frequently observed than in cases with the classical one. Herein we describe a novel case of CML with complex variant Ph translocation involving chromosomes 9, 12, and 22. We present the hematologic response and cytogenetic response after Imatinib treatment. We also speculated the mechanism which had originated the chromosome rearrangement.

Microvessel density in prostate carcinoma.

The objective of this work was to assess the correlation between microvessel density (MVD), pathological stage and disease recurrence in a series of patients who underwent radical prostatectomy for prostate cancer. Pathological material from 75 consecutive radical prostatectomies performed before 1994 without neo-adjuvant treatment, in which sufficient follow-up data were available, was re-examined. Paraffin embedded material was re-cut and hematoxylin and eosin (H&E) stained. Areas of maximal angiogenesis within tumor were identified. Expression of CD34 was investigated by using the monoclonal antibody MY 10. Within the areas of maximal angiogenesis, microvessels expressing CD34 were counted and specimens were divided into two groups, one showing a count of less than 90 microvessels per microscopic field at 200 x magnification (MVD<90), the second more than 90 microvessels (MVD>90). The MVD was then related to pathological stage, Gleason score (GS) and outcome of the disease. Mean follow-up was 84 months. Clinical or biochemical progression was observed in 38.6% of patients. In low GS cases, MVD was always <90, whereas in GS 5-6, half had MVD <90 and half were >90. In high GS MVD was always >90. MVD was positively associated with a higher pathological stage. Progression of the disease was observed in 20% of MVD <90 and in 51% in MVD >90 (P=0.006). Mantel-Haensz test showed a correlation between MVD and time to progression (P<0.05). Although problems exist in methods of counting and in the cut-off number of vessels, which can discriminate the risk categories, it may be concluded that microvessel counts, using CD34 monoclonal antibody, can accurately predict the outcome of radical prostatectomy.