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1.
Ann Acad Med Singap ; 52(8): 420-431, 2023 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-38920167

RESUMO

Objective: To determine the distribution of major fetal congenital heart diseases (CHDs) diagnosed antenatally during routine second-trimester obstetric anatomical scans in an unselected population at a single tertiary centre and to characterise and stratify risk factors, genetic diagnosis and long-term health at 4 years old. Method: A single-centre cohort study of all major fetal CHDs detected on routine obstetric fetal anatomical ultrasound scans between January 2014 and December 2017 was performed in an unselected population. Demographic details, fetal echocardiogram reports, genetic test results, delivery outcomes and postnatal progress were stratified by CHD subtype. Results: Of 20,031 screened pregnancies, 109 pregnancies (0.53%) had major fetal CHDs. The most common subtypes were coarctation of aorta (17.4%), transposition of great arteries (16.5%), and tetralogy of Fallot and univentricular hearts (13.8% each). Of the 60.5% that underwent confirmatory genetic testing-mostly conventional karyotyping and testing for 22q11 microdeletion-about a quarter had abnormalities, of which 22q microdeletion was the most common. We had complete obstetric data in 85 pregnancies (78%), of which 76.5% progressed to live birth. Among these, 92.1% of postnatal echocardiograms concurred with antenatal ones. At 4 years old, 43.2% of offspring had no medical or developmental issues, 20.0% had mild medical or developmental issues, 21.5% had major medical or developmental issues, and 12.3% had deceased. Conclusion: Fetal echocardiograms accurately diagnose CHDs. Future studies should evaluate the roles of chromosomal microarray and next-generation sequencing in diagnosing CHD.


Assuntos
Ecocardiografia , Testes Genéticos , Cardiopatias Congênitas , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/diagnóstico , Ultrassonografia Pré-Natal/métodos , Testes Genéticos/métodos , Ecocardiografia/métodos , Adulto , Estudos de Coortes , Segundo Trimestre da Gravidez , Pré-Escolar , Singapura/epidemiologia , Cariotipagem
2.
Ann Acad Med Singap ; 46(1): 4-10, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28182812

RESUMO

Introduction: Fetal hydrops is a serious condition which can be caused by immune and non-immune aetiologies. We aimed to review the management of fetal hydrops at our hospital. Materials and Methods: A retrospective review of all cases of fetal hydrops diagnosed in our institution from 2006 to 2013 was carried out. Results: Out of the 30 cases of fetal hydrops diagnosed antenatally, 17 were cases of Bart's hydrops which were all terminated in-utero. Of the remaining 13 cases, 11 cases consisted of non-immune causes of hydrops. Planned antenatal interventions including in-utero blood transfusions (n = 4) and thoracentesis (n = 5) as well as planned caesarean deliveries (n = 11) were performed in the majority of cases. Postnatal neonatal intensive care with interventions including chest drainage and transfusions were also performed. A majority, 92%, of the cases survived the perinatal period following a variable length of hospital stay ranging from a week to 3 months. Conclusion: Management of fetal hydrops is complex. Close coordination between the obstetric and neonatal teams was the key to good short-term survival of neonates with antenatally diagnosed hydrops, as it allows timely antenatal intervention and anticipation of potential perinatal complications.


Assuntos
Transfusão de Sangue , Cesárea , Terapias Fetais , Hidropisia Fetal/terapia , Toracentese , Aborto Induzido , Gerenciamento Clínico , Drenagem , Feminino , Hemoglobinas Anormais , Humanos , Hidropisia Fetal/sangue , Hidropisia Fetal/etiologia , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Singapura , Taxa de Sobrevida , Centros de Atenção Terciária , Talassemia alfa/sangue , Talassemia alfa/complicações
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