Chromosomal analyses in genetic counseling of patients with developmental and congenital abnormalities from Belém, Pará State, Brazil: a retrospective study of 17 years

Abstract

OBJECTIVE: To present a retrospective study covering 17 years of referral of patients to a public clinical cytogenetic service in Belém, Pará State, located in the Brazilian Amazon. MATERIALS AND METHODS: This study was based on a retrospective survey conducted from 1997 to 2014, considering registered chromosome G-banding results and relating them to information collected during patient evaluation. RESULTS: From a total of 1,580 patients, 730 (46.2%) had chromosomal abnormalities, of which 637 (87.3%) showed numerical alterations. Abnormalities involving autosomal chromosomes were more frequent, 524/730 (71.8%), while alterations in sex chromosomes comprised 28.2% (206). Down's syndrome was the most frequent, 424 (58.1%) of cases, followed by 175 (24.0%) cases of Turner's syndrome, and 25 (3.4%) of Klinefelter's syndrome. Patients with sex chromosome abnormalities were referred at a more advanced age when compared with those having autosomal chromosome abnormalities, with peaks around 11-15 years old (30.1% of cases) and 0-6 months old (40.5%), respectively. CONCLUSION: These findings are very similar to other studies and draw attention to public measures to improve both the quality with regard to diagnosis and the subsequent care of the patient.

Congenital anomalies in Santa Catarina: case distribution and trends in 2010–2018

“…11 For better monitoring of these pregnancies, considered of high risk, there is a need for specialized health services, with the performance of prenatal exams for morphological evaluation and genetic studies -if necessary -, in addition to monitoring these at-risk pregnant women. [12][13][14][15] The most prevalent CA in Brazil were musculoskeletal defects (1.31 cases per 1,000 LB), followed by congenital heart defects (0.81/1,000), oral clefts (0.61/1,000), and neural tube defects (0.45/1,000). 8 The predominance of musculoskeletal malformations is also visible in the state of Santa Catarina and may be related to the ease of diagnosis, as these are macrosomal malformations, visible and detectable on physical examination, diagnosed early in the immediate postnatal period.…”

Chromosomal Diseases in the Human Pathology

“…Young TS women with normal ovarian function should be counseled about fertility preservation options. Gonadotropins (especially follicle-stimulating hormone) should be monitored annually starting at about 11 years of age to confirm hypergonadotrophic hypogonadism prior to pubertal induction [6]. Anti-Müllerian hormone (AMH) and inhibin B measurements have also been shown to predict ovarian insufficiency when found to be low, and AMH is perhaps the best indicator of ovarian reserve [41].…”

“…Among all cases of birth defects in the life of stillbirths in Ukraine for 2002-2015, almost every 2 nd case referred to chromosomal pathology. The main clinical chromosomal syndromes include: Down syndrome (DS) -trisomy 21 -prevalence 1:400-1:1,500 newborns, Klinefelter syndrome (KS) -karyotype 47, XXY with a frequency of 1:500-1,000 newborn boys, Turner syndrome (TS) -karyotype 45,X with a frequency of 1:2,000-5,000 newborn girls [2][3][4][5][6]. Among the viable newborns, 1 of 400 boys and 1 of 650 girls have different forms of aneuploidy by sex chromosomes.…”

Epidemiologia das Síndromes Cromossômicas no Estado do Piauí: Relato dos primeiros 100 exames de cariótipos realizados no Estado

“…Porém, apenas em 2014, o Ministério da (MS) instituiu a Política Nacional de Atenção Integral às Pessoas com Doenças Raras (PNAIPDR) (dos Santos Luz et al, 2016;Fonseca, 2014). Porque 70 a 80% das doenças raras têm etiologia genética esta política é vista como uma oportunidade de inserção desta especialidade no Sistema Único de Saúde (SUS) (Groft & Posada de la Paz, 2017; Í. P. de Souza et al, 2019). A PNAIPDR organizou as doenças raras de acordo com sua origem em dois eixos i) doenças raras genéticas e ii) não-genéticas.…”