Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.

Chromosomal abnormality is one of the causes of congenital disorders among newborns. Despite aneuploidy being the major cause of first trimester miscarriages, very few aneuploidies such as trisomies of chromosomes 13, 18 and 21 survive to birth. The results of 4,064 patients referred for cytogenetic analysis at Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia between 2008 and 2019 were reviewed. We retrospectively investigated the karyotype patterns, clinical features and parental ages of the three common live-born autosomal trisomies such as trisomy 13, trisomy 18 and trisomy 21. The relative frequency of cases with the total sample received and cultured was calculated in each group and compared with those reported elsewhere. Between 2008 and 2019, a total of 1034 live-born trisomic cases which accounted for 25.4% of the 4064 total referred cases and 73.7% of 1403 suspected trisomy cases, were identified, with age ranging from newborns to 57 years. Down syndrome was the commonest aneuploidy (857 cases; 21.1%) followed by Edwards syndrome (133 cases; 3.3%) and Patau syndrome (44 cases; 1.1%). The number of diagnosed cases for each of the trisomies was fairly stable from year to year. About two-thirds of both maternal and paternal ages were ≥ 35 years. This is the first cytogenetic report on the common live-born autosomal trisomies in the North-Eastern region of Malaysia. The prevalence of trisomies 21 was found to be higher compared to an earlier study in the North-Western region of Malaysia, wherein also, advanced maternal age was a significant risk factor.

Group A Streptococcus puerperal sepsis with invasive neonatal infection: A fatal case.

Neonatal invasive Group A Streptococcus (GAS) infection is a rare occurrence nowadays. Prior maternal vaginal colonization is an important factor in early neonatal disease. We report a case of invasive and fatal infection in a neonate. At Day 1 of life, a term baby was found to be lethargic, with poor feeding, and later became unresponsive. Consequently, the baby was immediately brought to the Emergency Department of Hospital Universiti Sains Malaysia, Kubang Kerian, Kelantan via ambulance. Despite the active resuscitation efforts in the hospital, the baby died. An autopsy was carried out to determine the cause of death. The mother was noted to have puerperal pyrexia secondary to vaginal discharge. Her high vaginal swab culture was positive for GAS. GAS was also isolated from the intracardiac blood, pleural fluid, peritoneal fluid, and umbilical swab of the baby, giving evidence to the aetiology of the mortality. Vaginal colonization of GAS is an important factor for high morbidity and mortality for both mother and infant due to its invasiveness and virulence.