Prenatal diagnosis of transient abnormal myelopoiesis in three fetuses with Down syndrome: heterogeneous ultrasonographic findings and outcomes

Rizzo, Annalisa; Perotti, Gianfranco; Fiandrino, Giacomo; Spinillo, Arsenio; Stronati, Mauro; Iasci, Angela

doi:10.1002/uog.17545

Cited by 4 publications

(2 citation statements)

References 4 publications

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“…The incidence of TMD for neonates with trisomy 21 has mostly been reported as about 10% 1,3-5 . There are reports of intrauterine hepatomegaly noted on ultrasound, as with patient 1, indicating prenatal origin of the disease 6,7 .…”

Section: Discussionmentioning

confidence: 87%

Transient Myeloproliferative Disorder- Diagnosis and Management using Cytarabine: Case Series

Rahim,

Lajiness,

Saraf

et al. 2024

Preprint

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Section: Discussionmentioning

confidence: 87%

Transient Myeloproliferative Disorder- Diagnosis and Management using Cytarabine: Case Series

Rahim,

Lajiness,

Saraf

et al. 2024

Preprint

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“…Literature review (Table 1) on prenatal manifestation of TAM found only four articles describing fetuses with high MCA PSV suggestive of fetal anemia [39,41,44,45]. However, the majority of newborns included in the literature review were found to be anemic after birth without prenatal suspicion of anemia (12/43).…”

Section: Discussionmentioning

confidence: 99%

Prenatal manifestation of Transient Abnormal Myelopoiesis in a genotypically normal fetus: case report and review of the literature

Walasik,

Litwinska-Korcz,

Szpotańska

et al. 2024

Preprint

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Background: Congenital malignancies are unusual fetal conditions and therefore the data on their prenatal manifestation is limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and base on transient appearance of the blast cells in peripheral blood. This paper presents prenatal manifestation of congenital TAM in a genotypically normal newborn and reviews the literature on prenatal manifestation of this disorder. Case presentation: A pregnant woman in her third pregnancy referred herself to the hospital for reduced fetal movements at 30 weeks of gestation. Admission’s ultrasound scan showed an increased middle cerebral artery peak systolic velocity (MCA PSV) together with hepatomegaly. The patient was admitted to the labor ward for cardiotocography monitoring which showed an acute fetal distress with repeated unprovoked decelerations. An emergency cesarean section was conducted and a phenotypically normal female newborn with low Apgar score was delivered. Further examination of peripheral blood revealed anemia and leukocytosis with high blast proportion. A bone marrow aspirate revealed 70.2% of blasts in a sample with an abnormal karyotype of 47,XX+21. Cytogenetic analysis of blasts with later microarray comparative genomic hybridizationconfirmed the presence of GATA1 mutation. However, the buccal smear showed a normal karyotype in the infant. The disease was classified as TAM. The literature review together with the case presentation showed that increased MCA PSV and hepatosplenomegaly are important risk factors of death in fetuses with TAM. Conclusions: Our study demonstrates a rare case of prenatal manifestation of TAM in genotypically normal neonate. Obstetricians should pay attention to symptoms like high MCA PSV and hepatosplenomegaly as possible causes of fetal hematological disorders and differentiate it with infection or isoimmunization.

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Leukocytosis in the Newborn

Rahim

Lajiness

Saraf

et al. 2022

Pediatrics in Review

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Prenatal diagnosis of transient abnormal myelopoiesis in three fetuses with Down syndrome: heterogeneous ultrasonographic findings and outcomes

Cited by 4 publications

References 4 publications

Transient Myeloproliferative Disorder- Diagnosis and Management using Cytarabine: Case Series

Transient Myeloproliferative Disorder- Diagnosis and Management using Cytarabine: Case Series

Prenatal manifestation of Transient Abnormal Myelopoiesis in a genotypically normal fetus: case report and review of the literature

Leukocytosis in the Newborn

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