Transient Myeloproliferative Disorder in Neonate with Suspected Down Syndrome
نویسندگان
چکیده
A female with suspected Down syndrome was born by vaginal delivery at 37 weeks 2 days’ gestation to a mother with a history of Type A2 gestational diabetes mellitus. Routine prenatal testing consisted of a non-invasive screening test for aneuploidy. Results, presented in Table 1, indicated an aneuploidy for trisomy of chromosome 21, indicating an increased risk for Down syndrome. Prenatal confirmatory testing was declined. An ultrasound performed at 20 weeks, 2 days showed an absent nasal bone, unilateral choroid plexus cyst, borderline thickening of nuchal fold, and bilateral pyelectasis. These ultrasound findings are markers for aneuploidy, and increase the risk for fetal genetic syndrome [1]. A fetal echocardiogram was performed at 36 weeks and indicated that there was a possible coarctation of the aorta. Based on the positive aneuploidy screening and ultrasound results, Down syndrome with potential congenital heart defects was suspected.
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