Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?
BMC Pregnancy Childbirth
; 24(1): 338, 2024 05 03.
Article
em En
| MEDLINE
| ID: mdl-38702634
ABSTRACT
OBJECTIVE:
This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT) and to evaluate the efficacy of different genetic testing techniques for prenatal diagnosis of trisomy mosaicism.METHODS:
For prenatal diagnosis of a pregnant woman with a high risk of trisomy 7 suggested by NIPT, karyotyping and chromosomal microarray analysis (CMA) were performed on an amniotic fluid sample. Low-depth whole-genome copy number variation sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were used to clarify the results further. In addition, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to analyze the possibility of uniparental disomy(UPD).RESULTS:
Amniotic fluid karyotype analysis revealed a 46, XX result. Approximately 20% mosaic trisomy 7 was detected according to the CMA result. About 16% and 4% of mosaicism was detected by CNV-seq and FISH, respectively. MS-MLPA showed no methylation abnormalities. The fetal ultrasound did not show any detectable abnormalities except for mild intrauterine growth retardation seen at 39 weeks of gestation. After receiving genetic counseling, the expectant mother decided to continue the pregnancy, and follow-up within three months of delivery was normal.CONCLUSION:
In high-risk NIPT diagnosis, a combination of cytogenetic and molecular genetic techniques proves fruitful in detecting low-level mosaicism. Furthermore, the exclusion of UPD on chromosome 7 remains crucial when NIPT indicates a positive prenatal diagnosis of trisomy 7.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trissomia
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Cromossomos Humanos Par 7
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Hibridização in Situ Fluorescente
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Dissomia Uniparental
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Variações do Número de Cópias de DNA
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Cariotipagem
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Mosaicismo
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
BMC Pregnancy Childbirth
Assunto da revista:
OBSTETRICIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China