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Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus.

Kim GJ, Lee ES - Korean J Radiol (2009)

Bottom Line: We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later.Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis.Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetric and Gynecology, Chung-Ang University School of Medicine, Seoul, Korea.

ABSTRACT
We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

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Transient abnormal myelopoiesis in Down syndrome fetus.A. Longitudinal ultrasound scan of fetal abdomen shows hypoechoic liver occupying nearly entire enlarged abdomen. Liver length of 7.2 cm represents 90th percentile size.B. Fetal cerebral ventriculomegaly measuring 1.1 cm is evident.C. Oblique ultrasound scan of fetal abdomen. Skin edema (→) and ascites (*) are evident at 29+4 weeks' gestation.D. Postmortem picture of fetus with hepatomegaly.E. Myeloblastic cells infiltrating bone marrow (Hematoxylin & Eosin staining, ×40 magnification).
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Figure 1: Transient abnormal myelopoiesis in Down syndrome fetus.A. Longitudinal ultrasound scan of fetal abdomen shows hypoechoic liver occupying nearly entire enlarged abdomen. Liver length of 7.2 cm represents 90th percentile size.B. Fetal cerebral ventriculomegaly measuring 1.1 cm is evident.C. Oblique ultrasound scan of fetal abdomen. Skin edema (→) and ascites (*) are evident at 29+4 weeks' gestation.D. Postmortem picture of fetus with hepatomegaly.E. Myeloblastic cells infiltrating bone marrow (Hematoxylin & Eosin staining, ×40 magnification).

Mentions: Transabdominal ultrasonogram and Doppler examination with a 4-MHz convex transducer (GE Kretzvolusom730, NY) were performed on referral. Decreased amniotic fluid (amniotic fluid index, 5) and a hydropic placental change were noted (maximum thickness, 6.2 cm). By biometry, the head circumference was demonstrated as being between 90 and 97 percentile size and the femur length was normal for gestational age, but abdominal circumference was increased due to hepatosplenomegaly (34.3 mm, larger than 97%) (5). A hypoechoic liver occupied nearly the entire enlarged abdomen and the length of liver was 7.2 cm (90th percentile) (6) (Fig. 1A). The stomach could not be detected and mild cerebral ventriculomegaly (1.1 cm) was demonstrated (Fig. 1B). The cardio-thoracic circumference ratio (62%) increased but cardiac anatomy was normal. No other structural abnormality was detected.


Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus.

Kim GJ, Lee ES - Korean J Radiol (2009)

Transient abnormal myelopoiesis in Down syndrome fetus.A. Longitudinal ultrasound scan of fetal abdomen shows hypoechoic liver occupying nearly entire enlarged abdomen. Liver length of 7.2 cm represents 90th percentile size.B. Fetal cerebral ventriculomegaly measuring 1.1 cm is evident.C. Oblique ultrasound scan of fetal abdomen. Skin edema (→) and ascites (*) are evident at 29+4 weeks' gestation.D. Postmortem picture of fetus with hepatomegaly.E. Myeloblastic cells infiltrating bone marrow (Hematoxylin & Eosin staining, ×40 magnification).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2651437&req=5

Figure 1: Transient abnormal myelopoiesis in Down syndrome fetus.A. Longitudinal ultrasound scan of fetal abdomen shows hypoechoic liver occupying nearly entire enlarged abdomen. Liver length of 7.2 cm represents 90th percentile size.B. Fetal cerebral ventriculomegaly measuring 1.1 cm is evident.C. Oblique ultrasound scan of fetal abdomen. Skin edema (→) and ascites (*) are evident at 29+4 weeks' gestation.D. Postmortem picture of fetus with hepatomegaly.E. Myeloblastic cells infiltrating bone marrow (Hematoxylin & Eosin staining, ×40 magnification).
Mentions: Transabdominal ultrasonogram and Doppler examination with a 4-MHz convex transducer (GE Kretzvolusom730, NY) were performed on referral. Decreased amniotic fluid (amniotic fluid index, 5) and a hydropic placental change were noted (maximum thickness, 6.2 cm). By biometry, the head circumference was demonstrated as being between 90 and 97 percentile size and the femur length was normal for gestational age, but abdominal circumference was increased due to hepatosplenomegaly (34.3 mm, larger than 97%) (5). A hypoechoic liver occupied nearly the entire enlarged abdomen and the length of liver was 7.2 cm (90th percentile) (6) (Fig. 1A). The stomach could not be detected and mild cerebral ventriculomegaly (1.1 cm) was demonstrated (Fig. 1B). The cardio-thoracic circumference ratio (62%) increased but cardiac anatomy was normal. No other structural abnormality was detected.

Bottom Line: We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later.Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis.Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetric and Gynecology, Chung-Ang University School of Medicine, Seoul, Korea.

ABSTRACT
We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

Show MeSH
Related in: MedlinePlus