Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?
Humans
Female
Mosaicism
/ embryology
Pregnancy
In Situ Hybridization, Fluorescence
/ methods
Chromosomes, Human, Pair 7
/ genetics
Trisomy
/ diagnosis
Karyotyping
/ methods
Adult
Uniparental Disomy
/ diagnosis
DNA Copy Number Variations
Prenatal Diagnosis
/ methods
Microarray Analysis
/ methods
Noninvasive Prenatal Testing
/ methods
Multiplex Polymerase Chain Reaction
/ methods
Amniotic Fluid
CNV-seq
Chromosome microarray analysis
Fluorescence in situ hybridization
Karyotyping
Low-level mosaicism
MS-MLPA
Journal
BMC pregnancy and childbirth
ISSN: 1471-2393
Titre abrégé: BMC Pregnancy Childbirth
Pays: England
ID NLM: 100967799
Informations de publication
Date de publication:
03 May 2024
03 May 2024
Historique:
received:
07
12
2023
accepted:
15
04
2024
medline:
4
5
2024
pubmed:
4
5
2024
entrez:
3
5
2024
Statut:
epublish
Résumé
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. 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). 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. 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.
Identifiants
pubmed: 38702634
doi: 10.1186/s12884-024-06522-y
pii: 10.1186/s12884-024-06522-y
doi:
Types de publication
Journal Article
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
338Subventions
Organisme : Medical and Health Technology Research Project, Longgang District of Shenzhen City
ID : LGKCYLWS2021000024,LGKCYLWS2020106
Organisme : Medical and Health Technology Research Project, Special Funds for Science and Technology, Innovation Longgang District of Shenzhen City
ID : LGKCYLWS2022013
Informations de copyright
© 2024. The Author(s).
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