Detection of maternal uniparental disomy 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), maternal preeclampsia and a favorable outcome

Chen, Chih‐Ping; Chern, Schu‐Rern; Wu, Peih-Shan; Chen, Shin-Wen; Wu, Fang-Tzu; Chen, Lifeng; Chen, Yun-Yi; Wang, Wayseen

doi:10.1016/j.tjog.2021.11.024

Cited by 5 publications

(2 citation statements)

References 21 publications

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“…According to the molecular results performed in the present cases, the large block(s) of homozygosity of chromosome 9 detected by SNP-array in both amniocytes and umbilical blood is most probably the result of postzygotic trisomy rescue combined with mitotic recombination. Among the 5135 cases included in ChromosOmics Database (Liehr, 2023, https://cs-tl.de/DB/CA/ UPD/0-Start.html), only 53 cases have been referred to chromosome 9 and limited prenatal clinical significance of UPD 9 has been reported in the literature (Slater et al, 2000;Chen et al, 2022, Chen et al, 2010. Besides, the UPDs of most cases were reported after the discovery of trisomy 9 mosaicism at cytogenetic prenatal diagnosis (Liehr, 2023, https://cs-tl.de/DB/ Frontiers in Genetics frontiersin.org CA/UPD/0-Start.html), which makes the clinical phenotype analysis of UPD 9 more difficult.…”

Section: Discussionmentioning

confidence: 99%

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Zhu²,

Hu³

et al. 2023

Front. Genet.

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Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%–50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured amniocytes showed no copy number variation (CNV) except for large fragment loss of heterozygosity. Ultrasound findings were unmarkable except for small for gestational age. In Case 1, further umbilical blood puncture confirmed 22.4% and 34% trisomy 9 mosaicism by CMA and fluorescent in situ hybridization (FISH) respectively. After comprehensive consideration of the genetic and ultrasound results, the two gravidas decided to receive elective termination and molecular investigations of multiple tissue samples from the aborted fetus and the placenta. The results confirmed the presence of true fetoplacental mosaicism with levels of trisomy 9 mosaicism from 76% to normal in various tissues. These two cases highlight the necessity of genetic counseling for gravidas whose NIPT results highly suggest the risk of chromosome 9 to ascertain the occurrence of mosaicism. In addition, the comprehensive use of multiple genetic techniques and biological samples is recommended for prenatal diagnosis to avoid false-negative results. It should also be noted that ultrasound results of organs with true trisomy 9 mosaicism can be free of structural abnormalities during pregnancy.

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Section: Discussionmentioning

confidence: 99%

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Zhu²,

Hu³

et al. 2023

Front. Genet.

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“…However, rare matUPD2 patients accompanied with unspecific phenotypes, including severe IUGR, mild development delay ( Ou et al, 2013 ; Zhou et al, 2017 ), oligohydramios and hypospadias ( Hansen et al, 1997 ) ( Table 2 ). Furthermore, special cases in either mat or patUPD9, accompanied with different mosaic level of trisomy 9, or marker chromosomes, displayed multiple phenotypes, from normal to severe ( Chen et al, 2017 ; Chen et al, 2022 ), including minor dysmorphism, skeletal abnormalities ( Slater et al, 2000 ), intellectual disability, and growth retardation ( Ma et al, 2015 ) ( Table 2 ). A special case of matUPD(9) was noted with purulent chorioamnionitis and retarded embryo growth, resulting in spontaneous abortions ( Slater et al, 2000 ).…”

Section: Discussionmentioning

confidence: 99%

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

Chen,

Shi

et al. 2023

Front. Genet.

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Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Studies on clinical phenotypes in UPDs are usually focused on the documented UPD 6, 7, 11, 14, 15, and 20, which directly lead to imprinting disorders. This study describes clinical phenotypes and genetic findings of three patients with UPD 2, 9, and 14, respectively. Chromosomal microarray (CMA), UPDtool, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and whole-exome sequencing (WES) analysis were performed to characterize the genetic etiology. The CMA revealed a homozygous region involving the whole chromosome 2 and 9, a partial region of homozygosity in chromosome 14. UPD-tool revealed a paternal origin of the UPD2. MS-MLPA showed hypomethylation of imprinting gene MEG3 from maternal origin in the UPD14 case. In addition, UPD14 case displayed complex symptoms including growth failure, hypotonia and acute respiratory distress syndrome (ARDS), accompanied by several gene mutations with heterozygous genotype by WES analysis. Furthermore, we reviewed the documented UPDs and summarized the clinical characteristics and prognosis. This study highlighted the importance to confirm the diagnosis and origin of UPD using genetic testing. Therefore, it is suggested that expanding of the detailed phenotypes and genotypes provide effective guidance for molecule testing and genetic counseling, and promote further biological investigation to the underlying mechanisms of imprinted disorders and accompanied copy number variations.

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Late amniocentesis with uniparental disomy testing following successful in vitro fertilization and transfer of three mosaic embryos in a pregnancy with a favorable outcome

Chen

Lin²,

Tzeng³

et al. 2022

Taiwanese Journal of Obstetrics and Gynecology

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Detection of maternal uniparental disomy 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), maternal preeclampsia and a favorable outcome

Cited by 5 publications

References 21 publications

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

Late amniocentesis with uniparental disomy testing following successful in vitro fertilization and transfer of three mosaic embryos in a pregnancy with a favorable outcome

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