This study aims to compare the advantages of two widely used methods for fetal chromosomal detection, karyotyping and QF-PCR, together with the indications for invasive prenatal diagnosis. We retrospectively investigated 888 amniocenteses analyzed by karyotyping only or karyotyping combined with QF-PCR. We assessed the results of each method and compared them to the indications for prenatal testing including maternal age, fetal ultrasound findings, and serum screening. We found 39 (4.4%) abnormalities, where 59% of those abnormalities were numerical and 41% were structural abnormalities undetectable by QF-PCR methods. Many structural abnormalities do not have clinical significance and we found that 23% of found structural abnormalities were clinically significant but undetectable by QF-PCR (0.3% of all amniocentesis analyzed). Additional 23% of found structural abnormalities were balanced translocations which can have rare clinically significant consequences. In total, 46% of found structural abnormalities had possible clinical consequences, which were undetectable by QF-PCR, or by noninvasive prenatal testing for five common aneuploidies. Thus, QF-PCR is a reliable method to detect most common fetal aneuploidies, but karyotyping should be used if any other chromosomal abnormalities are suspected. Even though QF-PCR is a fast and reliable method, physicians should be aware of the limitations of various methodologies for detection of fetal abnormalities and assign the proper method to the indication for amniocentesis.

Introducao: Alguns inseticidas utilizados em saude publica inibem as colinesterases, levando ao acumulo de acetilcolina nas terminacoes nervosas, provocando alteracoes no sistema nervoso central. Objetivos: Avaliar o padrao de normalidade dos niveis de colinesterase de agentes de endemias de duas Microrregionais de Saude do Ceara. Metodos: Levantamento de dados em duas unidades do Laboratorio Central de Saude Publica (LACEN), referentes a dosagens de colinesterase de 81 agentes de endemias das 20a e 21a Microrregionais de Saude, medidas entre os anos de 2014 e 2015. Os agentes eram procedentes de seis municipios, nomeados em A e B (21a Microrregional); C, D, E e F (20a Microrregional). Resultados: Os agentes de A encontravam-se com um nivel de colinesterase medio de 7.460,8 U/L (±1.232,2 U/L), e os de B, 6.941,6 (±1.122,3 U/L). Os niveis colinergicos dos agentes da 20a Microrregional variavam de 3.406 U/L a 12.108 U/L, com media de 8.318 U/L (±2.334 U/L). Nove homens apresentavam alteracao nos niveis colinergicos, sendo cinco com valores abaixo do limite inferior de normalidade (4.620 U/L), quatro, acima do limite superior (11.500 U/L) e ¼ deles apresentava um nivel de 4.470 U/L, uma diferenca de apenas 150 unidades para a taxa minima de normalidade. Conclusoes: Constataram-se alteracoes nos niveis de colinesterase de 11,1% dos agentes, e aproximacao do valor limitrofe inferior de normalidade em 25% dos casos, indicando a necessidade de monitoramento desses niveis e conhecimento do estado de saude desses trabalhadores.

Analysis of Y-chromosome haplogroup distribution is widely used when investigating geographical clustering of different populations, which is why it plays an important role in population genetics, human migration patterns and even in forensic investigations. Individual determination of these haplogroups is mostly based on the analysis of single nucleotide polymorphism (SNP) markers located in the non-recombining part of Y-chromosome (NRY). On the other hand, the number of forensic and anthropology studies investigating short tandem repeats on the Y-chromosome (Y-STRs) increases rapidly every year. During the last few years, these markers have been successfully used as haplogroup prediction methods, which is why they have been used in this study. Previously obtained Y-STR haplotypes (23 loci) from 100 unrelated Turkish males recently settled in Sarajevo were used for the determination of haplogroups via 'Whit Athey's Haplogroup Predictor' software. The Bayesian probability of 90 of the studied haplotypes is greater than 92.2% and ranges from 51.4% to 84.3% for the remaining 10 haplotypes. A distribution of 17 different haplogroups was found, with the Y- haplogroup J2a being most prevalent, having been found in 26% of all the samples, whereas R1b, G2a and R1a were less prevalent, covering a range of 10% to 15% of all the samples. Together, these four haplogroups account for 63% of all Y-chromosomes. Eleven haplogroups (E1b1b, G1, I1, I2a, I2b, J1, J2b, L, Q, R2, and T) range from 2% to 5%, while E1b1a and N are found in 1% of all samples. Obtained results indicate that a large majority of the Turkish paternal line belongs to West Asia, Europe Caucasus, Western Europe, Northeast Europe, Middle East, Russia, Anatolia, and Black Sea Y-chromosome lineages. As the distribution of Y-chromosome haplogroups is consistent with the previously published data for the Turkish population residing in Turkey, it was concluded that the analyzed population could also be recognized as a representative sample of the Turkish population residing in Turkey.