Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 429-433, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-819030
ABSTRACT
OBJECTIVE@#To investigate the relationship between 22q11.2 duplication and clinical phenotype.@*METHODS@#Eight fetuses with 22q11.2 duplication syndrome diagnosed by chromosome microarray analysis (CMA) through amniocentesis from February 2015 to March 2017 were enrolled in the study. The prenatal diagnostic indications, fetal ultrasound, chromosome karyotype, peripheral blood CMA results of parents, pregnancy outcomes and follow-up of postnatal growth and development were retrospectively analyzed.@*RESULTS@#Prenatal serological screening indicated 6 cases with high risk of trisomy 21, 1 case with nuchal fold (NF) thickening and 1 case of maternal chromosomal balanced translocation. Fetal ultrasonography showed 1 case of NF thickening, 1 case of fetal cerebral ventriculomegaly and 6 cases with normal ultrasound. CMA demonstrated that the size of duplication was between 651 kb and 3.26 Mb, and 22q11.2 duplication. Parents' CMA results revealed that 6 cases inherited from one of the parents with normal phenotype, and the parents of 2 cases refused the CMA test. Two couples chose induced labor; 6 cases of continued pregnancy had normal phenotypes at birth. All 6 cases were followed up with longest of 3.5 years. The growth and psychological development were normal in 5 cases, and one case was growth retardation.@*CONCLUSIONS@#There were no specific clinical phenotypes in 22q11.2 duplication syndrome, and most of them were inherited from one parent who has normal phenotype.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Anormalidades Múltiplas
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Cromossomos Humanos Par 22
/
Resultado da Gravidez
/
Estudos Retrospectivos
/
Diagnóstico
/
Síndrome de DiGeorge
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Duplicação Cromossômica
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2019
Tipo de documento:
Artigo
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