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Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1461-1465, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009322
ABSTRACT
OBJECTIVE@#To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD).@*METHODS@#Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq).@*RESULTS@#The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23+4 weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq.@*CONCLUSION@#T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Placenta / Trisomía / Cromosomas Humanos Par 2 / Oligohidramnios / Disomía Uniparental / Variaciones en el Número de Copia de ADN / Muerte Fetal / Retardo del Crecimiento Fetal / Feto / Amniocentesis Límite: Femenino / Humanos / Embarazo Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2023 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Placenta / Trisomía / Cromosomas Humanos Par 2 / Oligohidramnios / Disomía Uniparental / Variaciones en el Número de Copia de ADN / Muerte Fetal / Retardo del Crecimiento Fetal / Feto / Amniocentesis Límite: Femenino / Humanos / Embarazo Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2023 Tipo del documento: Artículo