Twin-to-twin transmission of transient abnormal myelopoiesis without constitutional trisomy 21: A case report

Roseman, Alexander S.; Blackburn, Patrick R.; Bakshi, Shubham; Grady, Lisa M; Abbott, Mary Alice; Hassan, Sajjad; Hunt, John P.; Richardson, Matthew; Peterson, Jess F.; Nguyen, Phuong L.; Greipp, Patricia T.; Singh, Rachana

doi:10.1016/j.cancergen.2020.04.003

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…After the foetus in Case1 was delivered, the foetal face did not show any obvious facial characteristics of Down syndrome, other than a collapsed nose. Another hint is given to us through the publication by Roseman et al of the possibility that T21 rst occurs in the haematopoietic progenitor cells of the foetal liver, eventually leading to the placenta having a small amount of T21 mosiacism 25 , although this is still speculative. Therefore, we suspected that this might be a case of trisomy 21 mosiacism.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: Two case reports

HUI

Liu

et al. 2023

Preprint

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Background Transient abnormal myelopoiesis (TAM) is a transient haematological disorder of Down syndrome that is characterised by leucocytosis, the presence of blasts, abnormal haematopoiesis and hepatosplenomegaly. It is usually diagnosed within 8 weeks of birth, and the median age of diagnosis is 3–7 days. Case presentation We report two cases of prenatally diagnosed TAM, both with male foetal onset. One case was a rare placental low percentage 21 trisomy mosiacism, resulting in the occurrence of a false negative NIPT. The final diagnosis was made at 36 weeks of gestation when ultrasound revealed significant enlargement of the foetal liver and spleen and an enlarged heart; the foetus eventually died in utero. We detected a placenta with a low percentage (5%-8%) of trisomy 21 mosiacism by CNV-seq and FISH. In another case, foetal oedema was detected by ultrasound at 31 weeks of gestation. Two foetuses were diagnosed with Down syndrome by chromosomal microarray analysis (CMA) via umbilical vein puncture and had significantly elevated cord blood leucocyte counts with large numbers of blasts. The GATA1 Sanger sequencing results suggested the presence of a [NM_002049.4(GATA1):c.220G > A (p. Val74Ile)] hemizygous variant and a [NM_002049.4(GATA1):c.49dupC(p. Gln17ProfsTer23)] hemizygous variant of the GATA1 gene in two cases. Conclusion It seems highly likely that these two identified mutations are the genetic cause of prenatal TAM in foetuses with Down syndrome.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: Two case reports

HUI

Liu

et al. 2023

Preprint

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Acute Myeloid Leukaemia

2024

Leukaemia Diagnosis

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Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports

Tang,

Hu,

Liu

et al. 2023

Mol Cytogenet

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Background Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Down syndrome combined with TAM or ML-DS. Some patients with TAM are asymptomatic and may also present with severe manifestations such as hepatosplenomegaly and hydrops. Case presentation We report two cases of prenatally diagnosed TAM. One case was a rare placental low percentage 21 trisomy mosiacism, resulting in the occurrence of a false negative NIPT. The final diagnosis was made at 36 weeks of gestation when ultrasound revealed significant enlargement of the foetal liver and spleen and an enlarged heart; the foetus eventually died in utero. We detected a placenta with a low percentage (5–8%) of trisomy 21 mosiacism by Copy Number Variation Sequencing (CNV-seq) and Fluorescence in situ hybridization (FISH). In another case, foetal oedema was detected by ultrasound at 31 weeks of gestation. Two foetuses were diagnosed with Down syndrome by chromosomal microarray analysis via umbilical vein puncture and had significantly elevated cord blood leucocyte counts with large numbers of blasts. The GATA1 Sanger sequencing results suggested the presence of a [NM_002049.4(GATA1):c.220G > A (p. Val74Ile)] hemizygous variant and a [NM_002049.4(GATA1):c.49dupC(p. Gln17ProfsTer23)] hemizygous variant of the GATA1 gene in two cases. Conclusion It seems highly likely that these two identified mutations are the genetic cause of prenatal TAM in foetuses with Down syndrome.

show abstract

Twin-to-twin transmission of transient abnormal myelopoiesis without constitutional trisomy 21: A case report

Cited by 3 publications

References 9 publications

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: Two case reports

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: Two case reports

Acute Myeloid Leukaemia

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports

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