Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

BACKGROUND AND AIM: Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations. METHOD: The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay. RESULTS: The overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss. CONCLUSION: While this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender-related variations in chromosomal abnormalities that warrant further investigation.

Dietary Effects of Some Plant Extracts on Laying Performance, Egg Quality, and Some Blood Parameters in Laying Hens at Different Cage Densities.

This study was carried out to determine the effects of cage density and anise extract (AE), thyme extract (TE), and black cumin extract (BCE) supplementation in the diet of laying hens on laying performance, egg quality, and some blood parameters. A total of 288 Lohman White commercial hens were blocked according to the location of their cages. The four dietary treatments included a control, basal diet + 250 mg/kg of AE, basal diet + 250 mg/kg of BCE, and basal diet + 250 mg/kg of TE for 12 weeks. The cage density affected egg production (p < 0.05), feed consumption (p < 0.01), and cracked eggs (p < 0.05). Increasing the cage density caused a linear decrease in egg production and feed consumption. Compared to the control, there was a decrease in feed consumption (p < 0.01) in the plant extract groups, and in parallel, egg production decreased. An increased cage density did not affect the egg quality traits except the shell strength. The shell strength, yolk color, yolk index, albumen index, and Haught unit were significantly affected by the plant extracts. The cage density and plant extracts had a significant effect on the serum corticosterone and glucose (p < 0.01). The highest values of corticosterone and glucose were recorded for dietary TE with a cage density of 4 birds/cm2. On the other hand, the lowest values of these parameters were recorded for AE addition with a cage density of 3 birds/cm2. As a result, an increased cage density was associated with stress and depression in the feed consumption and metabolic profiles. Supplemental AE, BCE, and TE improved the laying performance and metabolic profiles.