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1.
RECIIS (Online) ; 18(2)abr.-jun. 2024.
Article in Portuguese | LILACS, ColecionaSUS | ID: biblio-1561332

ABSTRACT

Este artigo se baseia em um estudo feito com o objetivo de analisar indicadores sobre a testagem da sífilis na gestação no Programa de Qualificação das Ações de Vigilância em Saúde (PQAVS) e no Programa Previne Brasil no estado da Paraíba, e também de levantar aspectos do tratamento terapêutico para sífilis gestacional. Trata-se de uma pesquisa descritiva-exploratória, na qual foram sistematizados dados do indicador 11, testes por gestantes, do PQAVS e do indicador de desempenho da Atenção Primária à Saúde (APS), com base na proporção de gestantes que realizaram exames de sífilis e HIV durante o pré-natal em 2020; também foi feita a sistematização do webquestionário direcionado a profissionais da APS (médicos/enfermeiros) e autoaplicado sobre a atuação e tratamento terapêutico para sífilis gestacional. Dos 223 municípios da Paraíba, apenas 12% atingiram a meta do PQAVS e 39% a do Previne Brasil em 2020. Em relação ao webquestionário, houve a participação de 142 profissionais, dos quais 85% realizam o tratamento terapêutico preconizado pelo Ministério da Saúde para a APS. Desse modo, deve ser ressaltada a importância da ampliação da oferta de testes para sífilis, dos insumos para o tratamento adequado e da qualificação dos profissionais e da informação em saúde.


This article is based on a study to analyze indicators on syphilis testing during pregnancy in the PQAVS - Programa de Qualificação das Ações de Vigilância em Saúde (Health Surveillance Actions Qualification Programme) and in the Programa Previne Brasil (Previne Brasil Programme) in the state of Paraíba, Brazil, and also to survey aspects of the therapeutic management for gestational syphilis. It is a descriptive-exploratory research, in which data from indicator 11, tests for pregnant women, from the PQAVS and from the Primary Health Care (PHC) performance indicator, based on the proportion of pregnant women with syphilis and HIV tests during prenatal care in 2020 were systematised; in addition to this systematization, a self-administered webquestionnaire on the performance and therapeutic management for gestational syphilis by professionals (doctors/nurses) from the PHC was also systematised. Taking into account the 223 municipalities in Paraíba, only 12% reached the PQAVS goal and 39% reached the Previne Brasil goal in 2020. Regarding the webquestionnaire, 85% of the 142 professionals who answered it, carry out the therapeutic management recommended by the Ministry of Health for the PHC. Thus, it is fundamental to emphasise the importance of expanding the supply of tests for syphilis, supplies for adequate treatment, and the qualification of health professionals and information.


El presente artículo se basa en un estudio efectuado con el objetivo de analizar indicadores sobre la prueba de sífilis durante el embarazo en el PQAVS - Programa de Qualificação das Ações de Vigilância em Saúde (Programa de Calificación para Acciones de Vigilancia en Salud) y en el Programa Previne Brasil en el estado de Paraíba, Brasil, y de resaltar aspectos del tratamiento terapéutico de la sífilis gestacional. Se trata de una investigación descriptiva-exploratoria, en la que se sistematizaron datos del indicador 11, pruebas realizadas por embarazadas, del PQAVS y del indicador de desempeño de la Atención Primaria de Salud (APS), a partir de la proporción de gestantes que se sometieron a pruebas de sífilis y de HIV durante la atención prenatal en 2020; también se sistematizóel cuestionario web dirigido a profesionales de la APS (médicos/enfermeros) y autoadministrado sobre el desempeño y el tratamiento terapéutico de la sífilis gestacional. De los 223 municipios de Paraíba, apenas 12% alcanzaron la meta del PQAVS y 39% lograron la meta del Previne Brasil en 2020. En relación al cuestionario web, participaron 142 profesionales, de los cuales 85% realizan el tratamiento terapéutico recomendado por el Ministerio de Salud para la APS. Así, es fundamental la importancia de ampliar la oferta de pruebas para la sífilis, de los medicamentos para el tratamiento adecuado, la calificación de los profesionales e la información relacionada a la salud.


Subject(s)
Prenatal Care , Primary Health Care , Syphilis, Congenital , Treponema pallidum , Syphilis , Pregnancy, High-Risk , Disease Prevention , Maternal Health , Prenatal Diagnosis , Health Programs and Plans , HIV , Intersectoral Collaboration
2.
Arch. argent. pediatr ; 122(3): e202310167, jun. 2024. ilus, tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1555016

ABSTRACT

La clorhidrorrea congénita es un trastorno genético infrecuente pero importante caracterizado por una alteración grave del balance hidroelectrolítico como resultado de un defecto en la absorción intestinal de cloruros. Los niños afectados presentan diarrea persistente, deshidratación y malnutrición; el control médico y del desarrollo son complejos. Mejorar la detección prenatal es esencial para facilitar la atención del paciente, las intervenciones tempranas y el asesoramiento genético informado. Sin embargo, a pesar de los avances de la medicina, la naturaleza compleja y la escasa frecuencia de esta entidad, constituyen un desafío para la detección prenatal. En este estudio, se reporta el caso de una embarazada donde los estudios por imágenes de resonancia magnética fetales identificaron en forma efectiva las características típicas de la clorhidrorrea congénita. Se proveen conocimientos sobre las complejidades del diagnóstico y se sugieren caminos para las estrategias de detección temprana de esta enfermedad.


Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.


Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis/methods , Diarrhea/congenital , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/genetics , Diarrhea/etiology , Genetic Counseling
3.
Article in Chinese | WPRIM | ID: wpr-1009346

ABSTRACT

OBJECTIVE@#To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies.@*METHODS@#A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up. The sensitivity, specificity, positive predictive value and false positive rate of the NIPT were calculated.@*RESULTS@#Compared with other chromosomal abnormalities, NIPT had a higher efficacy for trisomy 21 and sex chromosomal aneuploidy (SCA) in twin pregnancies (with sensitivity being 100%, 100%, and specificity being 99.93%, 99.9%, respectively). It is difficult to evaluate the efficacy for trisomies 18 and 13 due to the limited data. For chromosome microdeletions and microduplications spanning 15 ~ 21 Mb, NIPT also had a certain detection rate. Compared with women with natural conception, NIPT had a higher detection rate for those with twin pregnancies by assisted reproduction (P < 0.05).@*CONCLUSION@#It is feasible to use NIPT for the detection of chromosome aneuploidies in women with twin pregnancies.


Subject(s)
Pregnancy , Female , Humans , Pregnancy, Twin , Prenatal Diagnosis , Down Syndrome/genetics , Chromosome Aberrations , Aneuploidy , Trisomy 18 Syndrome/genetics , Trisomy
4.
Article in Chinese | WPRIM | ID: wpr-1009345

ABSTRACT

OBJECTIVE@#To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis.@*METHODS@#A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq).@*RESULTS@#The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord.@*CONCLUSION@#The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.


Subject(s)
Child , Pregnancy , Female , Humans , Trisomy/genetics , Trisomy 18 Syndrome/genetics , Placenta , DNA Copy Number Variations , Prenatal Diagnosis/methods , Chromosome Disorders/genetics , Aneuploidy
5.
Article in Chinese | WPRIM | ID: wpr-1009344

ABSTRACT

OBJECTIVE@#To analyze the results of prenatal diagnosis and outcome of pregnancy for women with a high risk for fetal aneuploidies.@*METHODS@#A total of 747 cases of prenatal diagnosis by amniocentesis due to high risks by non-invasive prenatal testing (NIPT) were selected from January 2015 to March 2022 in the Drum Tower Hospital Affiliated to Nanjing University Medical School. The amniotic fluid samples were subjected to chromosomal karyotyping and/or chromosomal microarray analysis. All cases were followed up by searching the birth information or telephone calls, and the results were recorded. 2 test or F test were used for comparing the difference between the groups.@*RESULTS@#Among the 747 pregnant women with a high risk by NIPT, 387 were true positives, and the overall positive predictive value (PPV) was 51.81%. The PPVs for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13) and sex chromosome aneuploidies (SCA) were 80.24% (199/248), 60% (48/80), 14% (7/50) and 38.97% (106/272), respectively. The PPV for T21 was significantly higher than T18 and T13 (χ2 = 85.216, P < 0.0001). The PPV for other chromosomal aneuploidies and copy number variations (CNVs) were 11.11% (5/45) and 40.74% (22/52), respectively. The PPV for increased X chromosomes was significantly higher than X chromosome decreases (64.29% vs. 22.22%, χ2 = 5.530, P < 0.05). The overall PPV for elder women (≥ 35 years old) was significantly higher than younger women (69.35% vs. 42.39%, χ2 = 49.440, P < 0.0001). For T21 and T18, the PPV of Z ≥ 10 group was significantly higher than that for 3 ≤ Z < 5 group or 5 ≤ Z < 10 group (P < 0.05). Among 52 cases with a high risk for CNVs, the PPV for the ≤ 5 Mb group was significantly higher than the 5 Mb < CNVs < 10 Mb or > 10 Mb groups (60% vs. 30%60% vs. 23.53%, P < 0.05). Among the 387 true positive cases, 322 had opted for induced labor, 53 had delivered with no abnormal growth and development, and 12 were lost during the follow-up.@*CONCLUSION@#The PPVs for common chromosomal aneuploidies are related to the age and Z value of the pregnant women, which were higher in the elder group and higher Z value group. In addition, the PPV is associated with high risk types. The PPV for T21 was higher than T18 and T13, and that for 45,X was lower than 47,XXX, 47,XYY or 47,XXY syndrome. NIPT therefore has relatively high PPVs for the identification of chromosomal CNVs.


Subject(s)
Female , Pregnancy , Humans , Aged , Adult , DNA Copy Number Variations , Prenatal Diagnosis/methods , Down Syndrome/genetics , Aneuploidy , Trisomy 18 Syndrome/genetics , Trisomy 13 Syndrome/diagnosis , DNA , Trisomy/genetics
6.
Rev. colomb. obstet. ginecol ; 74(4): 310-316, dic. 2023. ilus
Article in Spanish | LILACS, COLNAL | ID: biblio-1536076

ABSTRACT

Objetivos: Describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: Mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: La realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.


Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.


Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis , Arthrogryposis , Syndrome , Exome , Talipes
7.
Medicentro (Villa Clara) ; 27(4)dic. 2023.
Article in Spanish | LILACS | ID: biblio-1534848

ABSTRACT

Introducción: En Cuba, los defectos congénitos constituyen la segunda causa de muerte en niños menores de un año, por lo cual ocupan un lugar prioritario en los programas médicos sociales del país. Objetivo: Evaluar el comportamiento epidemiológico del diagnóstico prenatal de los defectos congénitos en Holguín, Cuba. Métodos: Se realizó un estudio descriptivo y transversal de la epidemiología de los defectos congénitos en la provincia de Holguín, Cuba, en el periodo de enero 2011- junio de 2020. Resultados: Los años con mayor número de defectos congénitos diagnosticados fueron: 2011, 2012, 2017 y 2018 con 308, 253, 290 y 236 pacientes, respectivamente. Los defectos congénitos más frecuentes fueron: cardiovasculares (comunicación interventricular, canal auriculoventricular, transposición de grandes vasos e hipoplasia de cavidades), renales (pielocaliectasia, hidronefrosis, riñones poliquísticos), y del sistema nervioso central (ventriculomegalia, hidrocefalia). El grupo de edad materna donde se realizó mayor número de diagnósticos fue entre 20-24 años, la mayoría en el segundo trimestre de la gestación; en el primer trimestre, el mayor número de defectos congénitos correspondió a los defectos de pared anterior. La tasa de mortalidad infantil por defectos congénitos se mantuvo estable en la mayoría de los años estudiados. Conclusiones: La estabilidad y perfeccionamiento del programa de diagnóstico prenatal de los defectos congénitos, y el asesoramiento genético adecuado, han tenido un resultado epidemiológico favorable en la provincia.


Introduction: congenital defects in Cuba are the second cause of death in children under one year of age that is why they occupy a priority place in the social medical programs of the country. Objective: to evaluate the epidemiological manifestation of the prenatal diagnosis of congenital defects in Holguín, Cuba. Methods: a descriptive and cross-sectional study of the epidemiology of birth defects was carried out in Holguín province, Cuba from January 2011 to June 2020. Results: the years with the highest number of diagnosed birth defects were 2011, 2012, 2017 and 2018 with 308, 253, 290 and 236 patients, respectively. The most frequent birth defects were cardiovascular (ventricular septal defect, atrioventricular canal, transposition of the great vessels and hypoplasia of cavities), renal (pyelokaliectasia, hydronephrosis and polycystic kidneys), and central nervous system (ventriculomegaly and hydrocephalus). The maternal age group in which the highest number of diagnoses was made was between 20-24 years, mostly in the second trimester of pregnancy; the largest number of congenital defects in the first trimester corresponded to anterior wall defects. The infant mortality rate due to congenital defects remained stable in most of the years studied. Conclusions: the stability and improvement of the prenatal diagnosis program for congenital defects, as well as an adequate genetic counseling, have had a favourable epidemiological result in the province.


Subject(s)
Congenital Abnormalities , Prenatal Diagnosis , Heart Septal Defects
8.
Medicentro (Villa Clara) ; 27(3)sept. 2023.
Article in Spanish | LILACS | ID: biblio-1514487

ABSTRACT

Introducción: Las anomalías congénitas renales y de las vías urinarias constituyen la principal causa de enfermedad renal crónica en la edad pediátrica. Su etiología es multifactorial. Intervienen factores maternos, genéticos y ambientales. En Cuba, las afecciones congénitas del riñón y las vías urinarias constituyen una latente preocupación y aunque se ha incrementado el diagnóstico prenatal de las mismas, el número de pacientes diagnosticados es alto. Objetivo: Contribuir al conocimiento de la comunidad científica en relación con los factores de riesgo asociados a las anomalías del desarrollo renal. Métodos: Se realizó una revisión sistemática de la literatura médica disponible en las bases de datos Ebsco, SciELO, Scopus, Pubmed, revistas de nefrología pediátrica, pediatría, genética y teratología; y en la red social académica: Researchgate. Se accedió, durante los últimos cinco años, a varios artículos publicados en español y en inglés. Se utilizaron los descriptores Congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis, congenital abnormalities. Conclusiones: La presencia de la diabetes, desde la etapa preconcepcional y durante las primeras semanas del embarazo, la obesidad, las dietas maternas bajas en proteínas, y las alteraciones de la fertilidad, se asocian a las anomalías del desarrollo renal. Existen factores de riesgo específicos para determinados tipos de defectos congénitos renales y de las vías urinarias. No se considera, que el consumo del ácido fólico tenga un papel protector sobre las alteraciones de la embriogénesis renal, por lo que se recomienda ser cauteloso con la dosis que se administra a las embarazadas.


Introduction: congenital renal and urinary tract anomalies are the main cause of chronic kidney disease in children. Its etiology is multifactorial. Maternal, genetic and environmental factors are involved. In Cuba, congenital renal and urinary tract affections constitute a latent concern, and although their prenatal diagnoses have increased, the number of diagnosed patients is high. Objective: to contribute to the knowledge of the scientific community in relation to the risk factors associated with renal developmental anomalies. Methods: a systematic review of the available medical literature was carried out in Ebsco, SciELO, Scopus and Pubmed databases, in pediatric nephrology, pediatrics, genetics, and teratology journals as well as in the academic social network: Researchgate. Several articles published in Spanish and English languages were accessed during the last five years. The used descriptors were congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis and congenital abnormalities. Conclusions: the presence of diabetes, from the preconceptional stage and during the first weeks of pregnancy, obesity, maternal diets low in protein, and fertility disorders, are associated with renal developmental anomalies. There are specific risk factors for certain types of kidney and urinary tract birth defects. It is not considered that the consumption of folic acid has a protective role on the alterations of renal embryogenesis, so it is recommended to be cautious with the dose administered to pregnant women.


Subject(s)
Prenatal Diagnosis , Congenital Abnormalities , Urogenital Abnormalities , Risk Factors , Hydronephrosis
9.
Rev. chil. obstet. ginecol. (En línea) ; 88(3): 138-142, jun. 2023. tab
Article in Spanish | LILACS | ID: biblio-1515202

ABSTRACT

Objetivo: Determinar el grupo RhD fetal a través del estudio del gen RHD en ADN fetal que se encuentra libre en plasma de embarazadas RhD negativo. Método: Se analizó la presencia de los genes RHD, SRY y BGLO en ADNfl obtenido de plasma de 51 embarazadas RhD negativo no sensibilizadas, utilizando una qPCR. Los resultados del estudio genético del gen RHD se compararon con el estudio del grupo sanguíneo RhD realizado por método serológico en muestras de sangre de cordón, y los resultados del estudio del gen SRY fueron cotejados con el sexo fetal determinado por ecografía. Se calcularon la sensibilidad, la especificidad, los valores predictivos y la capacidad discriminativa del método estandarizado. Resultados: El gen RHD estaba presente en el 72,5% de las muestras y el gen SRY en el 55,5%, coincidiendo en un 100% con los resultados del grupo RhD detectado en sangre de cordón y con el sexo fetal confirmado por ecografía, respectivamente. Conclusiones: Fue posible deducir el grupo sanguíneo RhD del feto mediante el estudio del ADN fetal que se encuentra libre en el plasma de embarazadas con un método molecular no invasivo desarrollado y validado para este fin. Este test no invasivo puede ser utilizado para tomar la decisión de administrar inmunoglobulina anti-D solo a embarazadas RhD negativo que portan un feto RhD positivo.


Objective: To determine the fetal RhD group through the study of the RHD gene in fetal DNA found free in plasma of RhD negative pregnant women. Method: The presence of the RHD, SRY and BGLO genes in fetal DNA obtained from plasma of 51 non-sensitized RhD negative pregnant women was analyzed using qPCR. The results of the genetic study of the RHD gene were compared with the RhD blood group study performed by serological method in cord blood samples, and the results of the SRY gene study were compared with the fetal sex determined by ultrasound. Sensitivity, specificity, predictive values and discriminative capacity of the standardized method were calculated. Results: The RHD gene was present in 72.5% of the samples and the SRY gene in 55.5%, coinciding 100% with the results of the RhD group detected in cord blood, and with the fetal sex confirmed by ultrasound, respectively. Conclusions: It was possible to deduce the RhD blood group of the fetus through the study of fetal DNA found free in the plasma of pregnant women with a non-invasive molecular method developed and validated for this purpose. This non-invasive test can be used to make the decision to administer anti-D immunoglobulin only to RhD-negative pregnant women carrying an RhD-positive fetus.


Subject(s)
Humans , Female , Pregnancy , Rh-Hr Blood-Group System/genetics , DNA , Erythroblastosis, Fetal/diagnosis , Erythroblastosis, Fetal/genetics , Phenotype , Prenatal Diagnosis , Rh-Hr Blood-Group System/blood , Predictive Value of Tests , Sensitivity and Specificity , Rho(D) Immune Globulin , Genes, sry/genetics , Erythroblastosis, Fetal/blood , Fetal Diseases/diagnosis , Fetal Diseases/genetics , Fetal Diseases/blood , Genotype
10.
FEMINA ; 51(5): 292-296, 20230530.
Article in Portuguese | LILACS | ID: biblio-1512407

ABSTRACT

PONTOS-CHAVE • A incidência de câncer durante a gestação tem aumentado devido à tendência das mulheres em postergar a gravidez. O câncer de colo de útero é a terceira neoplasia mais comumente diagnosticada durante o período gestacional. • O rastreamento e o diagnóstico devem se dar como nas pacientes não gestantes; a citologia oncótica cervical é o exame obrigatório do pré-natal, e a colposcopia com biópsia pode ser realizada em qualquer período da gestação. • A gestação complicada pelo diagnóstico de um câncer deve sempre ser conduzida em centro de referência e por equipe multidisciplinar. • A interrupção da gestação em situações específicas, para tratamento-padrão, é respaldada por lei. • A quimioterapia neoadjuvante é uma alternativa segura de tratamento durante a gestação, para permitir alcançar a maturidade fetal. Apresenta altas taxas de resposta, sendo relatada progressão neoplásica durante a gestação em apenas 2,9% dos casos. O risco de malformações fetais decorrentes da quimioterapia é semelhante ao da população geral. Contudo, a quimioterapia está associada a restrição de crescimento intraútero, baixo peso ao nascer e mielotoxicidade neonatal. • Na ausência de progressão de doença, deve-se levar a gestação até o termo.


Subject(s)
Humans , Female , Pregnancy , Pregnancy , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/prevention & control , Women's Health , Pregnancy Complications, Neoplastic/prevention & control , Prenatal Diagnosis , Thorax/diagnostic imaging , Congenital Abnormalities/embryology , Bone Marrow/abnormalities , Infant, Low Birth Weight , Colposcopy/methods , Conization/methods , Neoadjuvant Therapy/adverse effects , Fetal Growth Retardation , Watchful Waiting/methods , Trachelectomy/methods , Abdomen/diagnostic imaging
11.
Article in Chinese | WPRIM | ID: wpr-1009326

ABSTRACT

OBJECTIVE@#To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography.@*METHODS@#Clinical data of three fetuses identified at the Women's Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis.@*RESULTS@#Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs).@*CONCLUSION@#The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.


Subject(s)
Pregnancy , Humans , Female , DNA Copy Number Variations , Constriction, Pathologic , Prenatal Diagnosis , Fetus/diagnostic imaging , Chromosome Aberrations
12.
Article in Chinese | WPRIM | ID: wpr-1009321

ABSTRACT

OBJECTIVE@#To carry out cyto- and molecular genetic analysis for a fetus with a ring chromosome identified through non-invasive prenatal testing (NIPT).@*METHODS@#A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical University on May 11, 2021 was selected as the study subject. Maternal peripheral blood sample was screened by NIPT, and G-banded chromosomal karyotyping was carried out on amniotic fluid and peripheral blood samples from the couple. The fetus and the pregnant woman were also subjected to genomic copy number variation sequencing (CNV-seq), chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) assay.@*RESULTS@#NIPT result suggested that the fetus had monomeric mosaicism or fragment deletion on chromosome 13. G banded chromosomal analysis showed that both the fetus and its mother had a karyotype of 47,XX,der(13)(pter→p11::q22→q10),+r(13)(::p10::q22→qter::), whilst her husband had a normal karyotype. FISH has verified the above results. No abnormality was detected with CNV-seq and CMA in both the fetus and the pregnant woman.@*CONCLUSION@#The ring chromosome 13 in the fetus has derived from its mother without any deletion, duplication and mosaicism. Both the fetus and the pregnant woman were phenotypically normal.


Subject(s)
Humans , Pregnancy , Female , Ring Chromosomes , Chromosomes, Human, Pair 13/genetics , In Situ Hybridization, Fluorescence , DNA Copy Number Variations , Prenatal Diagnosis/methods , Amniotic Fluid
13.
Article in Chinese | WPRIM | ID: wpr-1009320

ABSTRACT

OBJECTIVE@#To explore the cause for a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing (NIPT-plus).@*METHODS@#A pregnant woman with twin pregnancy through in-vitro fertilization and negative result of NIPT-plus was selected as the study subject. Amniocentesis was conducted after ultrasonic finding of fetal abnormalities. In addition to conventional G-banded karyotyping, copy number variation sequencing (CNV-Seq) was used to detect chromosomal microdeletion and microduplication. Clinical data of the woman were analyzed to explore the reasons underlying the false negative result.@*RESULTS@#NIPT-plus has yielded a negative result with 11.77 Mb unique reads and 3.05% fetal fraction. Both fetuses had a normal karyotype (46,XY and 46,XX). CNV-seq indicated that one of the fetuses was normal, whilst the other was diagnosed with a 2.58 Mb deletion in the 22q11.2 region.@*CONCLUSION@#The false negative result may be attributed to the combined influence of low fetal fraction, high BMI, twin pregnancy through IVF and a relatively small deletion fragment. Ultrasonography exam following a low-risk result of NIPT-plus should not be neglected.


Subject(s)
Pregnancy , Female , Humans , Prenatal Diagnosis , Pregnancy, Twin/genetics , DiGeorge Syndrome/genetics , DNA Copy Number Variations , Amniocentesis
14.
Article in Chinese | WPRIM | ID: wpr-1009306

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus with multiple malformations.@*METHODS@#Clinical data of the fetus was collected, Amniotic fluid sample of the fetus was subjected to conventional G-banded karyotyping, low-depth whole genome copy number variants detection and whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing of the fetus and its parents.@*RESULTS@#Prenatal ultrasound scan at 21+5 gestational weeks had revealed increased nuchal thickness (9.0 mm), enhanced echos of bilateral renal parenchyma, seroperitoneum, left pleural effusion and right displacement of the heart. The mother had a previous history of terminated pregnancy for multiple fetal anomalies. No abnormality was found by conventional karyotyping and CNV analysis, though WES revealed that the fetus has harbored a de novo heterozygous c.607C>T (p.Arg203Trp) variant of the ACS1 gene (NM_018026.3), and the result was validated by Sanger sequencing.@*CONCLUSION@#Through WES and prenatal ultrasonography, the fetus was diagnosed with Schuurs-Hoeijmakers syndrome due to the heterozygous c.607C>T (p.Arg203Trp) variant of the PACS1 gene (NM_018026.3). For fetuses with multiple malformations, WES can help to reveal the genetic etiology when CNV result is negative.


Subject(s)
Female , Pregnancy , Humans , Prenatal Diagnosis , Ultrasonography, Prenatal , Syndrome , Fetus , Abnormalities, Multiple , Vesicular Transport Proteins
15.
Article in Chinese | WPRIM | ID: wpr-1009305

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree featuring congenital profound syndromic deafness and chronic constipation, and provide prenatal diagnosis for a high-risk fetus.@*METHODS@#Whole-exome sequencing was carried out to analyze the sequences of genes associated with hereditary deafness, and multiplex ligation-dependent probe amplification (MLPA) was used to verify the candidate variant in the proband's parents and the fetus.@*RESULTS@#The proband was found to have harbored a heterozygous deletion of SOX10, a pathogenic gene associated with Waardenburg syndrome type 4C (WS4C). The same deletion was found in her mother (with profound syndromic deafness and chronic constipation) and the fetus, but not in her father with normal hearing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the SOX10 gene deletion was predicted to be a pathogenic variant (PVS1+PM2_Supporting+PP1+PP4).@*CONCLUSION@#The pedigree was diagnosed with WS4C, which has conformed to an autosomal dominant inheritance. Deletion of the entire SOX10 gene, as a loss-of-function variant, probably underlay its pathogenesis. Above finding has facilitated genetic counseling and prenatal diagnosis for this family.


Subject(s)
Humans , Female , Pregnancy , Pedigree , Waardenburg Syndrome/genetics , East Asian People , Genetic Testing , Prenatal Diagnosis , Hearing Loss, Sensorineural/genetics , Deafness/genetics , Mothers , Constipation/genetics , Mutation , SOXE Transcription Factors/genetics
16.
Article in Chinese | WPRIM | ID: wpr-1009303

ABSTRACT

OBJECTIVE@#To analysis variants of COL4A5 gene in two Chinese pedigrees affected with Alport syndrome (AS) and provide prenatal diagnosis for them.@*METHODS@#Two unrelated ethnic Han Chinese pedigrees who had visited the First Affiliated Hospital of Zhengzhou University respectively in September 2018 and January 2020 were selected as the study subjects. Clinical data were collected, and genomic DNA was extracted from peripheral venous blood and amniotic fluid samples for genetic testing. Following next generation sequencing, candidate variants of the COL4A5 gene were verified by Sanger sequencing and bioinformatic analysis. The gender of the fetuses was determined by the presence of sex-determining region on Y (SRY).@*RESULTS@#Genetic testing revealed that the proband and a fetus from pedigree 1 had both harbored a c.2723G>A (p.Gly908Glu) variant in exon 32 of the COL4A5 gene, whilst the proband and a fetus from pedigree 2 had both harbored a c.3817G>A (p.Gly1273Asp) variant in exon 44 of the COL4A5 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as likely pathogenic (PP2+PM2_Supporting). Following exclusion of maternal contamination, PCR amplification of the SRY region indicated that both fetuses were males.@*CONCLUSION@#The c.2723G>A (p.Gly908Glu) and c.3817G>A (p.Gly1273Asp) variants of the COL4A5 gene probably underlay the AS in the two pedigrees. Detection of the SRY region can reliably identify the fetal sex, which is conducive to the prenatal diagnosis. Above results have also enriched the mutational spectrum of the COL4A5 gene and provided a reference for correlating the genotype and phenotype of the AS.


Subject(s)
Female , Humans , Male , Pregnancy , Collagen Type IV/genetics , East Asian People , Genetic Testing , Nephritis, Hereditary/genetics , Pedigree , Prenatal Diagnosis
17.
Article in Chinese | WPRIM | ID: wpr-1009295

ABSTRACT

OBJECTIVE@#To assess the value of using flat-sided culture tubes for preparing chromosomes through chorionic villi (CV) and amniotic fluid (AF) cell cultures during prenatal diagnosis.@*METHODS@#From February to March 2020, 157 CV samples and 147 AF samples subjected to prenatal diagnosis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region were selected as the study subjects. For each sample, one flat-sided tube and one flask culture were set up by following the standard protocols. The methods were evaluated by comparing the cell growth, experimental process, quality of chromosome preparation and costs.@*RESULTS@#The success rates for the culturing of CV and AF samples by the flat-sided culture tube method were 97.45% (153/157) and 97.96% (144/147), respectively. By contrast, the success rates for the conventional flask method were 98.72% (155/157) for CV and 98.64% (145/147) for AF samples. No significant difference was found between the two methods (P > 0.05). The average harvest time required by the flat-sided culture tube method was 8.45 days for CV and 9.43 days for AF cultures, whilst the average harvest time for conventional flask method was 9.05 days and 9.54 days, respectively. The flat-sided culture tube method for CV had required significantly shorter average harvest time than the conventional method (P < 0.001). No statistical significant difference was found in the average harvest time for AF by the two methods (P > 0.05). The conventional culturing method had required three containers with two sample transfers. By contrast, the flat-sided culture tube method was carried out in one tube without any sample transfer. The average total amount of medium used was 3.91 mL for each flat-sided culture tube and 6.26 mL for each conventional flask.@*CONCLUSION@#The flat-sided culture tube method can provide a simple, cost-effective and error-reducing procedure for the CV and AF samples culture during prenatal diagnosis.


Subject(s)
Child , Female , Pregnancy , Humans , China , Prenatal Diagnosis , Chorionic Villi Sampling , Amniotic Fluid , Cell Proliferation
18.
Article in Chinese | WPRIM | ID: wpr-1009273

ABSTRACT

OBJECTIVE@#To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8.@*METHODS@#Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness.@*RESULTS@#The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3].@*CONCLUSION@#The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).


Subject(s)
Female , Pregnancy , Humans , Chromosomes, Human, Pair 8/genetics , In Situ Hybridization, Fluorescence , Gene Rearrangement , Prenatal Diagnosis , Centromere
19.
Article in Chinese | WPRIM | ID: wpr-1009265

ABSTRACT

OBJECTIVE@#To explore the clinical features and genetic etiology of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 (MCAHS3) and provide prenatal diagnosis for her parents.@*METHODS@#A female child who had presented at Linyi People's Hospital on 27 July 2022 for recurrent convulsions for over 4 years was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were taken from the child and her parents and subjected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out on amniotic fluid sample at 18 weeks' gestation. Bioinformatic software was used to analyze the pathogenicity of the protein model for the variant loci.@*RESULTS@#The child was a 4-year-old female with frequent seizures, peculiar facial appearance, hypotonia and severe developmental delay. Genetic analysis revealed that she has harbored compound heterozygous variants of the PIGT gene, namely c.1126del (p.H376Tfs*56) and c.1285G>C (p.E429Q), which were respectively inherited from her mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1126del (p.H376Tfs*56) variant was predicted to be pathogenic (PVS1+PM2_Supporting+PM4), and c.1285G>C (p.E429Q) variant was predicted to be likely pathogenic (PM2_Supporting+PM3+PM4). Prenatal diagnosis suggested that the fetus also harbored the same compound heterozygous variants, and the pregnancy was terminated with induced labor.@*CONCLUSION@#The c.1126del (p.H376Tfs*56) and c.1285G>C (p.E429Q) compound heterozygous variants of the PIGT gene probably underlay the MCAHS3 in this patient, and prenatal diagnosis has prevented birth of further affected child in this family.


Subject(s)
Humans , Female , Child , Pregnancy , Child, Preschool , Muscle Hypotonia/genetics , Prenatal Diagnosis , Computational Biology , Epileptic Syndromes , Facies
20.
Article in Chinese | WPRIM | ID: wpr-1009252

ABSTRACT

OBJECTIVE@#To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms.@*METHODS@#Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents.@*RESULTS@#Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3.@*CONCLUSION@#The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.


Subject(s)
Pregnancy , Female , Humans , Mosaicism , Ring Chromosomes , Vena Cava, Superior , Chromosome Aberrations , Prenatal Diagnosis , Microarray Analysis , Fetus/diagnostic imaging
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