Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 2.783
Filter
1.
Arch. pediatr. Urug ; 92(2): e211, dic. 2021. tab
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1278304

ABSTRACT

Introducción: las cardiopatías congénitas (CC) son patologías frecuentes en pediatría. Son causa de importante morbimortalidad en la infancia. Son pacientes complejos, que requieren abordaje integral, en equipo interdisciplinario. Objetivos: describir las características epidemiológicas, clínicas y evolutivas de niños portadores de CC asistidos en la Unidad de Cardiología del HP-CHPR durante el año 2015, así como su estado nutricional y los factores que pudieran influir en este. Material y método: estudio descriptivo, retrospectivo, a través de la revisión de historias clínicas de pacientes portadores de CC, hospitalizados en la Unidad de Cardiología del HP-CHPR en 2015. Se describieron características epidemiológicas y clínicas de los pacientes. Resultados: en el período evaluado egresaron 63 pacientes, que representaron una tasa de 6,58/1.000 egresos hospitalarios. Tenían un promedio de edad de 23,8 meses. Un total de 8 pacientes fueron diagnosticados en el período prenatal, 54 presentaban CC no cianóticas. Habían sido sometidos a tratamiento quirúrgico 24 niños, 13 con cirugía correctiva. Se diagnosticó desnutrición en 43%. Esta fue más prevalente en portadores de CC cianótica, de defectos complejos, y de cromosomopatías u otras malformaciones. Conclusión: los niños con CC representaron un pequeño porcentaje de quienes requirieron hospitalización en el HP-CHPR. El porcentaje de desnutrición fue elevado. Este estudio confirma la importante morbimortalidad de los niños pequeños portadores de CC. Es importante reconocer el mayor riesgo de estos pacientes y actuar en forma individualizada y oportuna.


Introduction: congenital heart disease (CHD) is a frequent pathology among children. It may cause significant morbidity and mortality during childhood. These are complex patients, who require a comprehensive approach and an interdisciplinary team. Objective: to describe the epidemiological, clinical and evolutionary characteristics of children with CHD assisted in the Cardiology Department of the Children Hospital-CHPR in 2015. Material and Methods: descriptive, retrospective study, review of clinical records of patients with CHD, hospitalized in the Cardiology Department of the Children's Hospital PRHC in 2015. Epidemiological and clinical characteristics of patients were described. Results: 63 patients were hospitalized during the evaluated period, a total rate of 6.58/1.000 discharges. They had an average age of 23.8 months. Eight patients were diagnosed in the prenatal period, 54 presented non-cyanotic CHD. Twenty-four children had undergone surgical treatment, 13 had had corrective surgery. Malnutrition was diagnosed in 43% and it was more prevalent in cyanotic CHD carriers, complex defects, and chromosomopathies or other malformations. Conclusion: CHD represented a small percentage of the children who required hospitalization at the PH-PRHC. The percentage of malnutrition was high. The study confirmed the significant morbidity and mortality of these patients. It is important to recognize the highest risk of these patients and act in a customized and timely fashion.


Introdução: as cardiopatias congênitas (CC) são patologias comuns em pediatria. Elas são uma causa significativa de morbidade e mortalidade na infância. Os pacientes são complexos e requerem uma abordagem integral e uma equipe interdisciplinar. Objetivos: descrever as características epidemiológicas, clínicas e evolutivas de crianças com CC atendidas na Unidade de Cardiologia do Hospital Pediátrico PHPR durante o ano de 2015, descrever seu estado nutricional e os fatores que poderiam influenciá-lo. Material e métodos: estudo descritivo, retrospectivo, feito por meio da revisão de prontuários de pacientes com CC, internados na Unidade de Cardiologia do HP-CHPR em 2015. Foram descritas as características epidemiológicas e clínicas dos pacientes. Resultados: no período avaliado, 63 pacientes receberam alta hospitalar, representando uma taxa de 6,5/1.000 altas hospitalares. Eles tinham uma idade média de 23,8 meses. Oito pacientes foram diagnosticados no período pré-natal, 54 apresentavam CC não cianótica. 24 crianças tinham sido submetidas a tratamento cirúrgico, 13 tinham recebido cirurgia corretiva. 43% foram diagnosticadas com desnutrição, a qual foi mais prevalente em portadores de CC cianótica, defeitos complexos e malformações cromossômicas ou outras. Conclusão: os CCs representaram um pequeno percentual de crianças que necessitaram de internação no HP-CHPR. O percentual de desnutrição foi alto. Este estudo confirma a morbidade e mortalidade significativas de crianças pequenas com CC. É importante reconhecer o risco aumentado desses pacientes e agir de forma individualizada e oportuna.


Subject(s)
Humans , Male , Female , Pregnancy , Infant , Child, Preschool , Child , Adolescent , Malnutrition/complications , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/epidemiology , Hospitalization , Prenatal Diagnosis , Epidemiology, Descriptive , Retrospective Studies , Malnutrition/diagnosis , Malnutrition/epidemiology , Heart Defects, Congenital/surgery , Heart Defects, Congenital/classification
2.
Arch. argent. pediatr ; 119(3): e215-e228, Junio 2021. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1223321

ABSTRACT

A partir del estudio seminal Management of Myelomeningocele Study en el año 2011, el cual demostró que la reparación prenatal del defecto del mielomeningocele antes de la semana 26 mejoraba los resultados neurológicos, la cirugía fetal fue incorporada dentro de las opciones de estándar de cuidado. Así, el diagnóstico prenatal del mielomeningocele dentro de la ventana terapéutica se convirtió en un objetivo obligatorio y, por ello, se intensificó la investigación de estrategias de tamizaje, sobre todo, en el primer trimestre. Además, se desarrollaron distintas técnicas de cirugía fetal para mejorar los resultados neurológicos y disminuir los riesgos maternos. El objetivo de la siguiente revisión es actualizar los avances en tamizaje y diagnóstico prenatal en el primer y segundo trimestre, y en cirugía fetal abierta y fetoscópica del mielomeningocel


A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved neurological outcomes; based on this study, fetal surgery was introduced as a standard of care alternative. Thus, prenatal myelomeningocele diagnosis within the therapeutic window became a mandatory goal; therefore, research efforts on screening strategies were intensified, especially in the first trimester. In addition, different fetal surgery techniques were developed to improve neurological outcomes and reduce maternal risks. The objective of this review is to provide an update on the advances in prenatal screening and diagnosis during the first and second trimesters, and in open and fetoscopic fetal surgery for myelomeningocele


Subject(s)
Humans , Male , Female , Pregnancy , Meningomyelocele/surgery , Fetus/surgery , Prenatal Care , Prenatal Diagnosis , Spinal Dysraphism , Meningomyelocele/diagnostic imaging , Fetal Therapies , Fetoscopy
3.
Rev. colomb. obstet. ginecol ; 72(2): 202-209, Apr.-June 2021. graf
Article in Spanish | LILACS | ID: biblio-1289317

ABSTRACT

Resumen Objetivos: Reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la literatura en torno al resultado y al diagnóstico de esta entidad, implementando el uso de métodos no convencionales: ecografía tridimensional (3D) o resonancia magnética fetal (RM). Materiales y métodos: Se reporta el caso de una gestante de 18 años, remitida a la Unidad de Medicina Materno-Fetal, Genética y Reproducción del Hospital Virgen del Rocío de Sevilla (España), por feto con imagen quística abdominal, peristáltica, compatible con atresia de yeyuno, la cual se confirmó con ecografía 3D modo HDlive. Se realizó una búsqueda bibliográfica en Medline/PubMed, LILACS y Google Scholar, restringiendo por tipo de idioma (inglés y español) y fecha de publicación (enero de 1995 a junio de 2020). Se incluyeron estudios primarios de reportes y series de caso, que abordaran el resultado y el diagnóstico prenatal de esta patología. Resultados: La búsqueda identificó 1.033 títulos, de los cuales cuatro estudios cumplieron con los criterios de inclusión, estos fueron reporte o series de casos. En total se reportaron doce fetos con diagnóstico prenatal de atresia de yeyuno detectada con métodos no convencionales. Una gestación finalizó con óbito a la semana 26 de gestación y en todos los demás casos, el diagnóstico se ratificó durante el periodo neonatal, requiriendo la resección del segmento comprometido. Dos neonatos desarrollaron síndrome de intestino corto como consecuencia de una resección intestinal amplia. El resto experimentó una evolución posoperatoria favorable. Conclusión: La literatura disponible en torno al diagnóstico prenatal de atresia de yeyuno utilizando métodos no convencionales es escasa y se limita a reporte o series de casos. La literatura revisada sugiere que, en presencia de dilatación intestinal, la ecografía 3D y la resonancia magnética fetal podrían tener cierta utilidad a la hora de caracterizar la porción atrésica y establecer el diagnóstico diferencial. Se requieren más estudios que evalúen la utilidad diagnóstica de estas dos alternativas.


Abstract Objectives: To report the case of a patient with a prenatal diagnosis of jejunal atresia and to review the literature regarding the results and prenatal diagnosis of this entity, implementing the use of non-conventional methods (3D ultrasound or magnetic resonance imaging). Material and methods: Report of a case of an 18-year-old pregnant woman referred to the Maternal-Fetal Medicine, Genetics and Reproduction Unit of the Virgen del Rocío Hospital in Seville due to fetus with abdominal peristaltic cystic image, consistent with jejunal atresia, confirmed with 3D HDLive mode ultrasound. A bibliographic search was carried out in Medline/PubMed, Google Scholar and LILACS, restricting by type of language (English and Spanish) and date of publication (January 1995 to June 2020). Primary studies of reports and case series relating to the outcome and prenatal diagnosis of this pathology were included. Results: The search identified 1,033 titles, of which four studies met the inclusion criteria, these being reports or case series. A total of twelve fetuses with a prenatal diagnosis of jejunal atresia detected with unconventional methods were reported. In all cases, the prenatal diagnosis was confirmed during the neonatal period, which required resection of the compromised segment; one of them died and two neonates developed short bowel syndrome because of a wide bowel resection. The postoperative course in the remaining cases was favorable. Conclusion: The available literature on the prenatal diagnosis of jejunal atresia using non-conventional methods is scarce and is limited to case reports or case series. The literature reviewed suggests that, in the presence of intestinal dilation, 3D ultrasound and magnetic resonance imaging could be of some use in characterizing the atretic portion and establishing the differential diagnosis. More studies are required to evaluate the diagnostic utility of these two alternatives.


Subject(s)
Humans , Female , Pregnancy , Intestinal Atresia , Jejunum/diagnostic imaging , Prenatal Diagnosis , Ultrasonography
4.
Arch. argent. pediatr ; 119(5): e499-e503, oct. 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1292670

ABSTRACT

Gracias al avance de la tecnología, es posible realizar el diagnóstico prenatal de distintas malformaciones congénitas que ponen en riesgo la vida del recién nacido. Entre estas, el teratoma oral o epignathus es una forma poco frecuente de teratoma congénito entre los que se localizan en cabeza y cuello. Suelen ser benignos y abarcan el 4 % de los teratomas neonatales.A partir del desarrollo de la técnica de tratamiento intraparto extraútero (EXIT, por su sigla en inglés), que se implementó en los años 90 para mantener la circulación fetal hasta asegurar la vía aérea del recién nacido, se logra planificar una estrategia de manejo multidisciplinario que permite el abordaje correcto de estas patologías. Se presenta un caso de teratoma oral gigante en una paciente de sexo femenino de 35 semanas de gestación, en quien se aplicó la técnica EXIT, y su evolución posterior.


Thanks to technological advances, it has been possible to carry out the prenatal diagnosis of different life-threatening congenital malformations. Among these, oral teratoma, or epignathus, is a rare form of congenital teratoma within those located in the head and neck. They are generally benign and comprise 4 % of neonatal teratomas. From the development of the EXIT technique (ex utero intrapartum treatment), which has been implemented since the 90's to support fetal circulation until the newborn's airway is secured, it is possible to plan a multidisciplinary management strategy that enables the correct approach of these pathologies.We present a case of giant epignathus in a 35-week gestation female patient, whose airway was secured using the EXIT technique, and follow up.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Teratoma , Airway Obstruction , Prenatal Diagnosis , Cesarean Section , Ultrasonography, Prenatal , Gestational Age
5.
Iatreia ; 34(1): 25-32, ene.-mar. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1154355

ABSTRACT

RESUMEN Objetivos: determinar la utilidad de la prueba de avidez en el seguimiento de los pacientes diagnosticados con toxoplasmosis congénita a través de la evaluación de su comportamiento en el tiempo. Metodología: estudio retrospectivo a partir de los datos en historias clínicas de niños que tuvieron confirmación diagnóstica y tratamiento para toxoplasmosis congénita, realizado en consulta de toxoplasmosis, tercer nivel de referencia en el centro de salud de la Universidad del Quindío. Se estudiaron 21 niños que fueron seleccionados de una cohorte inicial de 168 pacientes, reclutados en los programas de tamizaje prenatal y los programas de prevención o niños que acudieron para el diagnóstico neonatal. Resultados: no se encontró relación estadísticamente significativa entre el porcentaje de avidez baja en el primer mes y haber recibido tratamiento prenatal (p = 0,47). Tampoco entre la primera y los niveles de IgG o los meses de vida, a pesar de haber recibido tratamiento posnatal. Sin embargo, al estudiar específicamente el grupo de niños de 5 meses de edad, se encontró una correlación significativa con los niveles de IgG anti-Toxoplasma (p = 0,01). Conclusión: en esta cohorte de niños colombianos con toxoplasmosis congénita se encontraron los mismos resultados reportados en series previas con un mayor número de casos en Italia. La avidez no mostró ser útil para el seguimiento de los niños con toxoplasmosis congénita.


SUMMARY Objectives: To determine the use of avidity testing in the follow up of patients diagnosed with congenital toxoplasmosis, through the observation of its behavior in time. Methods: Retrospective study from clinical records of children with confirmed diagnosis and treatment for congenital toxoplasmosis, which took place on atoxoplasmosis consultation in the third reference level University of Quindío clinic. A total of 21 children were selected among an initial cohort of 168 patients, recruited during prenatal screening, neonatal screening or children that attended for neonatal diagnosis. Results: There was no statistical significance found between low avidity during the first month and having received prenatal treatment (p=0,47). There was no statistical relationship either between the percentage of avidity and the levels of IgG or the months of age, despite having received postnatal treatment. Nevertheless, when studying specifically the group of children > 5 months of age a significant correlation was found with levels of IgG (p=0,01). Conclusion: In this cohort of Colombian children with congenital toxoplasmosis, the same results were found comparing with those reported in series with greater number of cases. Avidity testing did not prove to be useful for the follow up of children with congenital toxoplasmosis.


Subject(s)
Humans , Infant, Newborn , Toxoplasmosis , Prenatal Diagnosis
6.
Rev. cuba. hematol. inmunol. hemoter ; 37(1): e1338, ene.-mar. 2021. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1251717

ABSTRACT

Introducción: Las hemoglobinopatías se consideran errores monogénicos hereditarios y están caracterizados por defectos en la molécula de hemoglobina. En Cuba, la detección prenatal de hemoglobinopatías se realiza a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda: asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar la frecuencia de hemoglobinopatías en mujeres embarazadas residentes en Cuba. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar la frecuencia de hemoglobinopatías en 1 342 917 mujeres embarazadas captadas en el periodo 2009-2019. El método diagnóstico de la pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación se realizó por electroforesis de hemoglobina en gel de agarosa a pH ácido; ambos métodos mediante la tecnología HYDRASYS. Resultados: La frecuencia global de embarazadas con hemoglobinopatías fue de 3,5 por ciento. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El subprograma alcanzó 99,24 por ciento de cobertura en el país. Conclusión: La alta frecuencia de hemoglobinopatías en Cuba justifica la importancia de continuar el subprograma de detección de portadores para prevenir la aparición de las formas graves de la enfermedad(AU)


Introduction: Hemoglobinopathies are hereditary monogenic errors characterized by defects in the hemoglobin molecule. In Cuba, prenatal detection of hemoglobinopathies is performed by hemoglobin electrophoresis to identify high-risk couples. The program offers genetic counseling, prenatal molecular diagnosis and selective pregnancy termination in case of affected fetuses at the request of couples. Objective: Determine the frequency of hemoglobinopathies among pregnant women living in Cuba. Methods: A descriptive cross-sectional retrospective study was conducted to determine the frequency of hemoglobinopathies in 1 342 917 pregnant women recruited in the period 2009-2019. Screening was based on the diagnostic method of hemoglobin electrophoresis in alkaline pH agarose gels. Confirmation was performed with hemoglobin electrophoresis in acid pH agarose gel. Both methods used HYDRASYS technology. Results: Overall frequency of pregnant women with hemoglobinopathies was 3.5 percent. Hemoglobinopathies were detected in 47 465 women: 38 698 with variant S heterozygote, 8 706 with variants of hemoglobin C y 158 with other variants. 44 283 husbands with hemoglobinopathies and 3 099 high-risk couples were detected, and 2 689 prenatal molecular diagnostic tests were conducted. A total 522 affected fetuses were confirmed, and 382 couples requested pregnancy termination. The subprogram achieved 99.24 percent coverage in the country. Conclusion: The high frequency of hemoglobinopathies in Cuba justifies the importance of continuing the carrier detection subprogram to prevent the emergence of severe forms of the disease(AU)


Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis , Family Characteristics , Electrophoresis , Genetic Counseling , Hemoglobinopathies , Hydrogen-Ion Concentration , Mass Screening , Retrospective Studies
7.
Rev. Bras. Saúde Mater. Infant. (Online) ; 21(1): 107-115, Jan.-Mar. 2021. tab, graf
Article in English | LILACS | ID: biblio-1250682

ABSTRACT

Abstract Objectives: to investigate the association between Vertically Transmitted Infections (VTI) and Extrauterine Growth Restriction (EUGR) among premature infants in Neonatal Intensive Care Units (NICU). Methods: part of a large non-concurrent cohort study with medical records analysis. We evaluated EUGR in premature infants at a gestational age at birth of > 32 weeks and <36 weeks and presented a corrected gestational age of 36 completed weeks during a 27-day birth follow-up. Premature infants with major congenital anomalies were excluded. We analyzed associations among EUGR, VTI and covariables related to maternal disease, birth characteristics, perinatal morbidities and clinical practices. Results: out of the 91 premature infants, 59.3% (CI95%=48.9-69.0%) developed EUGR. VTI were observed in 4.4%o of the population; all premature infants affected by VTI had EUGR. The VTI found were syphilis, cytomegalovirus disease and toxoplasmosis. The final analysis has showed a positive association between VTI and EUGR (RR=1.57; CI95%o=1.07-2.30); the female covariables (RR=1.50; CI95%=1.11-2.02), moderate premature classification (RR=1.41; CI95%=1.06-1.87) and small for gestational age (RR=2.69; CI95% 1.853.90) have also influenced this outcome. Conclusion: this study revealed VTI as an important morbidity factor, with impact on the increased risk of EUGR between premature infants affected by these diseases.


Resumo Objetivos: investigar associação das Infecções de Transmissão Vertical (ITV) com a Restrição do Crescimento Extrauterino (RCEU) entre prematuros em Unidades de Terapia Intensiva Neonatal (UTIN). Métodos: recorte de um estudo de coorte não concorrente, com análise em prontuários. Avaliou-se a ocorrência de RCEU em prematuros que tiveram a idade gestacional de nascimento^ 32 semanas e < 36 semanas e que apresentaram idade gestacional corrigida de 36 semanas completas dentro do período de acompanhamento de 27 dias de vida.Foram excluídos os prematuros com anomalias congênitas maiores. Analisou-se associações entre RCEU, as ITV e as covariáveis relacionadas à doença materna, características do nascimento, morbidades perinatais e práticas clínicas. Resultados: dos 91 prematuros, 59,3% (IC95%o 48,9-69,0%o) desenvolveram RCEU. As ITVforam observadas em 4,4%o da população; todos os prematuros acometidos por ITV apresentaram RCEU. As ITV encontradas foram sífilis, citomegalovirose e toxoplasmose. A análise final demonstrou associação positiva das ITV com RCEU (RR=1,57; IC95%o= 1,072,30); as covariáveis sexo feminino (RR=1,50; IC95%o= 1,11-2,02), classificação prematuro moderado (RR=1,41; IC95%o=1,06-1,87) e pequeno para a idade gestacional (RR=2,69; IC95%1,85-3,90) também influenciaram este desfecho. Conclusão: este estudo revelou as ITV como importante fator de morbidade, com impacto no aumento do risco de RCEU entre prematuros acometidos por essas doenças.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Infant, Premature/growth & development , Syphilis/epidemiology , Toxoplasmosis/epidemiology , Risk Factors , Infectious Disease Transmission, Vertical/statistics & numerical data , Prenatal Diagnosis , Brazil/epidemiology , Intensive Care Units, Neonatal , Indicators of Morbidity and Mortality , Morbidity , Malnutrition
8.
Arch. argent. pediatr ; 119(1): e65-e69, feb. 2021. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1147269

ABSTRACT

El hemangioma hepático es el tumor benigno de hígado más frecuente. Puede ser congénito o infantil, con diferentes evoluciones y complicaciones. La evolución clínica es muy variable, desde pacientes asintomáticos hasta cuadros de gravedad con insuficiencia cardíaca, síndrome de Kasabach-Merritt o síndrome compartimental. El diagnóstico se basa en la historia clínica y los estudios por imágenes, especialmente, la ecografía y el examen doppler en manos experimentadas. Resulta fundamental el diagnóstico diferencial con otras lesiones hepáticas, sobre todo, el hepatoblastoma. En los pacientes sintomáticos, el propranolol surge como primera línea terapéutica con buenos resultados y baja frecuencia de efectos adversos. Se presenta el caso de un recién nacido con hemangioma hepático asociado a síndrome de Kasabach-Merritt, con excelente respuesta y tolerancia al propranolol


Hepatic hemangioma is the most common benign liver tumor. It can be congenital or infantile with different outcomes and complications. The clinical manifestation varies from asymptomatic to severe conditions with heart failure, Kasabach-Merritt syndrome or compartment syndrome. Diagnosis depends on medical history and imaging studies, especially ultrasound and Doppler examination in experienced hands. Differential diagnosis is essential with other hepatic lesions, mainly hepatoblastoma. In symptomatic patients, propranolol emerges as the first line treatment with good results and low frequency of adverse effects. We present the case of a newborn with a hepatic hemangioma and Kasabach-Merritt syndrome with an excellent response and tolerance to propranolol.


Subject(s)
Humans , Male , Infant, Newborn , Kasabach-Merritt Syndrome , Hemangioma/congenital , Prenatal Diagnosis , Propranolol/therapeutic use , Liver Neoplasms
9.
Article in Chinese | WPRIM | ID: wpr-879632

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus with renal abnormalities through whole exome sequencing and imaging examination.@*METHODS@#Clinical data and result of medical imaging of the fetus was collected. Amniotic fluid sample was collected for the extraction of fetal DNA. Whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasonography showed that the fetus had bilateral enlargement of the kidneys with hyperechogenicity and diffuse renal cysts. Whole exome sequencing revealed that the fetus carried compound heterozygous variants of the PKHD1 gene, namely c.5137G>T and c.2335_2336delCA, which were derived from its mother and father, respectively.@*CONCLUSION@#The fetus was diagnosed with autosomal recessive polycystic kidney disease through combined prenatal ultrasonography and whole exome sequencing. The compound heterozygous variants of the PKHD1 gene probably underlay the pathogenesis in the fetus. The results have enabled prenatal diagnosis and genetic counseling for its parents.


Subject(s)
Female , Genetic Testing , Humans , Polycystic Kidney, Autosomal Recessive/genetics , Pregnancy , Prenatal Diagnosis , Receptors, Cell Surface/genetics , Whole Exome Sequencing
10.
Article in Chinese | WPRIM | ID: wpr-879630

ABSTRACT

OBJECTIVE@#To explore the cause of abortion and strategy of prenatal diagnosis for pregnant women with high risk for chromosomal abnormalities by using copy number variation sequencing (CNV-seq) and short tandem repeats (STR) analysis.@*METHODS@#A total of 36 samples were collected, including amniotic fluid, abortion tissue, whole blood, chorionic villi and umbilical cord blood. CNV-seq and STR analysis were carried out to detect microdeletions, microduplications, chromosomal aneuploidies, mosaicisms and triploidies.@*RESULTS@#Among all samples, 1 was detected with 4p15.1p16.3 and 14q11.1q22.1 duplication, 1 was detected with 19p13.3 deletion, 8 were detected with chromosomal aneuploidies, 4 were detected with mosaicisms, two were detected with triploidies. No definite pathogenic CNVs were detected in 20 samples, which yielded a positive detection rate of 44.44%.@*CONCLUSION@#As a high-throughput detection method, CNV-seq has the advantages of rapidity, simplicity and high accuracy. It may suit prenatal diagnosis and analysis of abortion factors in combination with STR analysis.


Subject(s)
Abortion, Spontaneous/genetics , DNA Copy Number Variations , Female , Humans , Karyotyping , Microsatellite Repeats , Pregnancy , Prenatal Diagnosis
11.
Article in Chinese | WPRIM | ID: wpr-879629

ABSTRACT

OBJECTIVE@#To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT).@*METHODS@#NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. The results were then verified by fluorescence in situ hybridization (FISH) on metaphase cells.@*RESULTS@#The NIPT test of pregnant women suggested low risk for 21-trisomy, 18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. The result of high-throughput sequencing chromosome microdeletion/microduplication detection was seq[hg19](X)× 1, (Y)× 2. FISH showed a clear red signal at each end of a whole chromosome, and a green signal on the other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C banding showed that there is a dense and a slightly loose centromere at both ends of the Y chromosome, and the parachromatin region was missing. The karyotype of amniotic fluid and cord blood cells was finally determined to be 46,X, pus idic(Y) (q11.23).@*CONCLUSION@#For chromosome anomalies suggested by auxiliary report of NIPT, conventional karyotyping combined with high-throughput sequencing for chromosome microdeletion/microduplication should be adopted for the prevention and reduction of the rate of chromosome microdeletion/microduplication syndromes.


Subject(s)
Chromosome Aberrations , DNA Copy Number Variations , Female , Humans , In Situ Hybridization, Fluorescence , Pregnancy , Prenatal Diagnosis , X Chromosome
12.
Article in Chinese | WPRIM | ID: wpr-879628

ABSTRACT

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.@*METHODS@#G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan.@*RESULTS@#The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent.@*CONCLUSION@#Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.


Subject(s)
Chromosome Deletion , Chromosomes , Female , Fetus , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis
13.
Article in Chinese | WPRIM | ID: wpr-879621

ABSTRACT

OBJECTIVE@#To explore the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with high risk signaled by non-invasive prenatal testing (NIPT).@*METHODS@#From June 2017 to August 2019, 628 pregnant women with high risk signaled by NIPT underwent invasive prenatal diagnosis. Amniotic fluid or cord blood samples were subjected to chromosomal karyotyping analysis or CMA. Pregnancy outcome and postnatal conditions of the fetuses were followed up.@*RESULTS@#The positive predictive value for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidy, other rare trisomies and copy number variants (CNVs) among the 628 women were 86.4% (127/147), 41.7% (30/72), 12.9% (4/31), 43.7% (101/231), 16.5% (14/85) and 52.2% (35/67), respectively. In 218 samples with normal karyotype, 5.5% (12/218) of additional pathogenic CNVs and 2.3% (5/218) of loss of heterozygosity were detected by CMA.@*CONCLUSION@#CMA combined with karyotyping analysis can be used as first-tier test for prenatal diagnosis for women with high-risk signaled by NIPT.


Subject(s)
Female , Humans , Karyotyping , Microarray Analysis , Pregnancy , Prenatal Diagnosis , Trisomy 13 Syndrome/genetics , Trisomy 18 Syndrome
14.
Article in Chinese | WPRIM | ID: wpr-879609

ABSTRACT

OBJECTIVE@#To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform.@*METHODS@#A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Genetic testing was offered to those with a CK level of ≥ 200 U/L. For carriers of DMD variants, genetic counseling and follow up were provided.@*RESULTS@#For the 61 870 females participating in the program, 1078 were found with raised serum CK (≥ 200 U/L), of which 618 (57.33%) accepted CK re-measurement after at least a two-week interval. One hundred and twenty cases were found with sustained serum CK elevation, of which 6 were confirmed to be definite DMD carriers regardless of family history. Genetic testing was provided to 33 females with a family history for DMD, and 13 were determined as definite carriers. An affected fetus was detected by prenatal diagnosis. After genetic counseling, the parents had opted induced abortion.@*CONCLUSION@#Large-scale DMD carrier screening through a three-step approach based on the current community health examination platform is both feasible and cost effective.


Subject(s)
Female , Genetic Carrier Screening , Genetic Counseling , Genetic Testing , Humans , Muscular Dystrophy, Duchenne/genetics , Pregnancy , Prenatal Diagnosis
15.
Article in Chinese | WPRIM | ID: wpr-879607

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with partial 18p deletion detected by non-invasive prenatal testing (NIPT).@*METHODS@#Peripheral blood and amniotic fluid samples of the pregnant woman and her husband were subjected to G-banded chromosomal karyotyping and more accurate chromosomal microarray analysis (CMA). The deletion sites were verified by fluorescence in situ hybridization (FISH) using centromeric probe Cep11 Aqua and telomeric probes Tel11q SO and Tel18 SG.@*RESULTS@#The karyotype of the fetus was determined as 46,XN,del(18)(p11.3). CMA has detected a 6.66 Mb deletion at 18p11.32-p11.31 (136 226-6 796 178). FISH confirmed the presence of a partial deletion at 18p. The mother was found to harbor the same deletion by chromosomal karyotyping as well as CMA analysis. No abnormality was found with the husband.@*CONCLUSION@#Although the fetus and its mother have both carried the same 18p deletion, no clinical manifestation was detected in the mother, which may be attributed to a low penetrance of the disorder. The fetus had died at 33 weeks of gestation with unknown cause.


Subject(s)
Chromosome Deletion , Female , Fetus , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Prenatal Diagnosis
16.
Article in Chinese | WPRIM | ID: wpr-879599

ABSTRACT

OBJECTIVE@#To explore the genetic basis for two Chinese pedigrees affected with Huntington disease and provide prenatal diagnosis for them.@*METHODS@#Peripheral venous blood samples were collected from the probands. PCR and capillary gel electrophoresis were used to determine the number of CAG repeats in their IT15 gene. Pre-symptomatic testing was offered to their children and relatives, and prenatal diagnosis was provided to three pregnant women from the two pedigrees.@*RESULTS@#The two probands, in addition with three asymptomatic members, were found to have a (CAG)n repeat number greater than 40. Upon prenatal diagnosis, the numbers of CAG repeats in two fetuses from pedigree 1 were determined as (16, 19) and (18, 19), both were within the normal range. A fetus from pedigree 2 was found to have a CAG repeat number of (15, 41), which exceeded the normal range.@*CONCLUSION@#Genetic testing can facilitate the diagnosis of Huntington disease and avoid further birth of affected children.


Subject(s)
Child , Female , Genetic Testing , Humans , Huntington Disease/genetics , Nerve Tissue Proteins/genetics , Pedigree , Pregnancy , Prenatal Diagnosis
17.
Article in Chinese | WPRIM | ID: wpr-879598

ABSTRACT

OBJECTIVE@#To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation.@*METHODS@#For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase@*RESULTS@#For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele.@*CONCLUSION@#FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.


Subject(s)
Female , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Humans , Intellectual Disability/genetics , Mutation , Pregnancy , Prenatal Diagnosis
18.
Article in Chinese | WPRIM | ID: wpr-879597

ABSTRACT

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis.@*METHODS@#NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test was carried out to exclude maternal DNA contamination. Prenatal diagnosis was provided to 14 couples based on the discoveries in the probands.@*RESULTS@#Twenty-seven variants were identified in the TSC1 and TSC2 genes among the 29 pedigrees, which yielded a detection rate of 93.1%. Respectively, 5 (18.5%) and 22 (81.5%) variants were identified in the TSC1 and TSC2 genes. Twelve variants were unreported previously. Prenatal diagnosis showed that five fetuses were affected with TSC, whilst the remaining nine were unaffected.@*CONCLUSION@#Above finding has expanded the spectrum of TSC1 and TSC2 gene variants. Combined NGS and MLPA has enabled diagnosis of TSC with efficiency and accuracy.


Subject(s)
DNA Mutational Analysis , Female , Genetic Testing , Humans , Mutation , Pregnancy , Prenatal Diagnosis , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Tuberous Sclerosis Complex 2 Protein/genetics
19.
Article in Chinese | WPRIM | ID: wpr-879580

ABSTRACT

OBJECTIVE@#To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.@*METHODS@#Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics.@*RESULTS@#Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth.@*CONCLUSION@#NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.


Subject(s)
DNA Copy Number Variations , Female , Humans , Mosaicism , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Trisomy
20.
Article in Chinese | WPRIM | ID: wpr-879579

ABSTRACT

OBJECTIVE@#To explore the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosome copy number variations (CNVs).@*METHODS@#Clinical data of 18 661 pregnant women who underwent NIPT were collected. For fetuses suspected for carrying CNVs, amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis (CMA).@*RESULTS@#Among all samples, NIPT suggested that 58 fetuses carried trisomy 21, 18 carried trisomy 18, 19 carried trisomy 13, 1 carried trisomies 18 and 21. Eighty eight women accepted invasive prenatal diagnosis. The results of CMA in 59 cases were consistent with those of NIPT, which yielded a consistency rate of 67.05%. In addition, 37 cases of fetal CNVs were detected by NIPT, of which 19 (15 microdeletions and 4 microduplications) have accepted invasive prenatal diagnosis. In 14 cases, the results were consistency with those of NIPT, with a consistent rate of 73.68%.@*CONCLUSION@#NIPT features high sensitivity and accuracy. Invasive prenatal diagnosis should be considered for CNVs detected by NIPT, and by tracing its parental origin, it can provide guidance for clinical practice.


Subject(s)
Chromosomes , DNA Copy Number Variations , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
SELECTION OF CITATIONS
SEARCH DETAIL