PMID- 37858167
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231119
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 16
IP  - 1
DP  - 2023 Oct 19
TI  - Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis 
      in foetuses with a GATA1 gene variant: two case reports.
PG  - 27
LID - 10.1186/s13039-023-00658-w [doi]
LID - 27
AB  - 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.
CI  - (c) 2023. BioMed Central Ltd., part of Springer Nature.
FAU - Tang, Hui
AU  - Tang H
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Hu, Jingjing
AU  - Hu J
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Liu, Ling
AU  - Liu L
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Lv, Lijuan
AU  - Lv L
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Lu, Jian
AU  - Lu J
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Yang, Jiexia
AU  - Yang J
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Lu, Jiaqi
AU  - Lu J
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Chen, Zhenhui
AU  - Chen Z
AD  - Laboratory Department, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Yang, Chaoxiang
AU  - Yang C
AD  - Radiology Department, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Chen, Dan
AU  - Chen D
AD  - Ultrasound Department, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Fu, Jintao
AU  - Fu J
AD  - Pathology Department, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China.
FAU - Wu, Jing
AU  - Wu J
AD  - Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, People's 
      Republic of China. singhwu@126.com.
LA  - eng
PT  - Journal Article
DEP - 20231019
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC10588144
OTO - NOTNLM
OT  - Down syndrome
OT  - GATA1
OT  - Prenatal diagnosis
OT  - Transient abnormal myelopoiesis
OT  - Trisomy 21
COIS- The authors declare no competing interests.
EDAT- 2023/10/20 06:42
MHDA- 2023/10/20 06:43
PMCR- 2023/10/19
CRDT- 2023/10/20 00:01
PHST- 2023/02/08 00:00 [received]
PHST- 2023/09/27 00:00 [accepted]
PHST- 2023/10/20 06:43 [medline]
PHST- 2023/10/20 06:42 [pubmed]
PHST- 2023/10/20 00:01 [entrez]
PHST- 2023/10/19 00:00 [pmc-release]
AID - 10.1186/s13039-023-00658-w [pii]
AID - 658 [pii]
AID - 10.1186/s13039-023-00658-w [doi]
PST - epublish
SO  - Mol Cytogenet. 2023 Oct 19;16(1):27. doi: 10.1186/s13039-023-00658-w.