Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis

Wattanasirichaigoon, Duangrurdee; Promsonthi, Patama; Chuansumrit, Ampaiwan; Leopairut, Juvady; Yanatatsaneejit, Pattamawadee; Rattanatanyong, Prakasit; Munkongdee, Thongperm; Fucharoen, Suthat; Mutirangura, Apiwat

doi:10.1111/j.1399-0004.2008.01046.x

Cited by 11 publications

(4 citation statements)

References 16 publications

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“…This problem also exists in the occurrence of maternal or paternal UPD 10 and nonpaternity, which have been previously reported in the literature. 11–14 Second, the prevalence of thalassaemia is population-dependent. Thus, in our area of Guangdong Province, routine DNA analysis is restricted to three common deletions (– SEA /, –α3.…”

Section: Discussionmentioning

confidence: 99%

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –^SEA and large novel α-globin gene cluster deletions

et al. 2021

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Background We describe 2 unusual haemoglobin (Hb) Bart’s hydrops cases that could not be explained by traditional factors. Case presentation: Two families with a diagnosis or history of foetal hydrops were enrolled. A suspension-array system was used to detect the 23 most frequent mutations in southern China. Multiplex ligation-dependent probe amplification (MLPA) was used to screen for possible deletions. Precise characterisation of the breakpoints of the novel variants and uniparental disomy analysis were performed using a single nucleotide polymorphism (SNP) array. Quantitative fluorescence PCR was used to eliminate maternal cell contamination and nonpaternity. In case 1, the suspension-array system indicated a maternal heterozygous (–SEA/) deletion, and the paternal sample was negative. The foetal hydrops was caused by the maternal (–SEA/) deletion and a de novo α-globin gene deletion (–193). In case 2, the paternal sample had a heterozygous (–SEA/) deletion, and MLPA and SNP array analysis revealed a large maternal deletion (–227) that encompassed the α-globin gene, which explained the history of Hb Bart’s foetal hydrops. Conclusions Our cases describe 2 new α0-thalassaemia deletions and illustrate the importance of using a combination of methods to detect rare types of α-thalassaemia.

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Section: Discussionmentioning

confidence: 99%

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –^SEA and large novel α-globin gene cluster deletions

et al. 2021

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“…Although maternal uniparental disomy at chromosome 16 is commonly associated with intrauterine growth restriction [8], it has been associated with unmasking of recessive conditions, such as α-thalassemia major and Fanconi anemia [9]. Several cases of maternal uniparental disomy leading to Bart's hydrops fetalis syndrome have been reported by Kou et al, Au et al and Wattanasirichaigoon et al [10][11][12].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16

Tan

2021

J Med Cases

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Hemoglobin (Hb) Bart's hydrops fetalis is the most severe form of α-thalassemia and is usually inherited in an autosomal recessive manner. We report a case of Hb Bart's hydrops fetalis due to uniparental disomy of chromosome 16. Antenatal screening showed a low maternal mean corpuscular volume (MCV), while paternal MCV was normal. The fetus was found to have a thickened nuchal translucency during first trimester screening for Down's syndrome. Mid-trimester fetal anomaly ultrasound scan showed fetal cardiomegaly with pericardial effusion, scalp edema, ascites and an elevated middle cerebral arterial peak systolic velocity (MCA PSV). Multiplex polymerase chain reaction (PCR) on DNA from amniocentesis showed that the fetus was homozygous for South East Asian (SEA) type 2 α-globin gene deletion. Chromosome microarray (CMA) showed two regions of absence of heterozygosity (AOH) on the terminal p and q arm of chromosome 16. The rare occurrence of Hb Bart's hydrops fetalis caused by maternal uniparental disomy should be considered in cases of fetal hydrops even in cases where paternal MCV is normal.

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“…These 2 cases highlight the problem of a screening system which focuses on maternal and paternal MCV alone. Like case 1, maternal uniparental disomy causing fetal Hb Bart's disease or [5], similarly, β thalassemia major has been reported [6]. Like case 2, non-paternity was attributed as a cause of late presentation of fetal Hb Bart's disease in a previous study [7], was incidentally found during prenatal testing of genetic disease [8], or risk assessment of rhesus disease [9].…”

Section: Discussionmentioning

confidence: 99%

Two Unusual Cases of Haemoglobin Bart's Hydrops Fetalis due to Uniparental Disomy or Non-Paternity

Kou¹,

Lee²,

Lau³

et al. 2013

Fetal Diagn Ther

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The authors present 2 unusual cases of haemoglobin (Hb) Bart's hydrops fetalis and highlight the problem of a screening system for α-thalassaemia which focuses on maternal and paternal mean corpuscular volume (MCV) alone. Normal paternal MCV may not preclude fetal Hb Bart's disease because of the rare occurrence of maternal uniparental disomy or non-paternity. During a mid-trimester anomaly scan, with fetal cardiomegaly or hydrops in a woman with low MCV but normal paternal MCV, obstetricians should remain alert for fetal Hb Bart's disease. This is very important and relevant for national screening systems in South-East Asia, where a routine mid-trimester scan may not be available. A routine mid-trimester anomaly scan should therefore be implemented and in high prevalence areas, sonographers should be sensitive to the cardio-thoracic ratio even if screening shows that pregnancy is unlikely to be at risk.

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Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis

Cited by 11 publications

References 16 publications

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –^SEA and large novel α-globin gene cluster deletions

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –^SEA and large novel α-globin gene cluster deletions

A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16

Two Unusual Cases of Haemoglobin Bart's Hydrops Fetalis due to Uniparental Disomy or Non-Paternity

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Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis

Cited by 11 publications

References 16 publications

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –SEA and large novel α-globin gene cluster deletions

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –SEA and large novel α-globin gene cluster deletions

A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16

Two Unusual Cases of Haemoglobin Bart's Hydrops Fetalis due to Uniparental Disomy or Non-Paternity

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Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –^SEA and large novel α-globin gene cluster deletions

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by –^SEA and large novel α-globin gene cluster deletions