Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study.
Eur J Obstet Gynecol Reprod Biol
; 297: 91-95, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38603985
ABSTRACT
OBJECTIVES:
To evaluate the the diagnostic yield of chromosomal microarray analysis (CMA) in fetuses with isolated CPC (iCPC).METHODS:
A total of 315 fetuses with iCPC (iCPC group) and 364 fetuses without abnormal ultrasound findings (control group) were recruited between July 2014 to March 2018.RESULTS:
The overall diagnostic yield of chromosomal abnormalities by CMA and karyotyping in iCPC group was up to 4.1 %, higher than 1.4 % in the control group, p < 0.05. The detection rate of pathogenic or likely pathogenic copy number variants (CNVs) with clinical significance by CMA in iCPC group (1.3 %) was higher than in control group (0 %), p < 0.05. According to the type of chromosome abnormalities, the missed diagnosis rate of non-invasive prenatal testing (NIPT) was 1.6 % in our study.CONCLUSIONS:
The presence of iCPC on ultrasound examination suggests a potential indication for genetic counseling. Karyotyping and chromosomal microarray analysis may be considered for fetuses with iCPC. It is important to be aware of the limitations of non-invasive prenatal testing, as there is a possibility of residual risk.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Aberraciones Cromosómicas
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Análisis por Micromatrices
/
Cariotipificación
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Eur J Obstet Gynecol Reprod Biol
Año:
2024
Tipo del documento:
Article