Extreme Elevation of Maternal Serum Alpha-Fetoprotein Associated with Mosaic Trisomy 8 in a Liveborn
| Autor: | M.J. Stephan, W.O. Walker, L.S. Martin, Nathan J. Hoeldtke, R.I. Miller, J.E. Hayden, Roderick F. Hume, Patrick C. Kelly, Byron C. Calhoun |
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| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Embryology medicine.medical_specialty Aneuploidy Gestational Age Trisomy Pyelectasis Fingers Bicuspid aortic valve Pregnancy Cryptorchidism medicine Humans Radiology Nuclear Medicine and imaging Mosaicism business.industry Obstetrics Infant Newborn Pregnancy Outcome Obstetrics and Gynecology General Medicine Anatomy Toes medicine.disease Hypoplasia Undescended testicle Facial Asymmetry Aortic Valve Pediatrics Perinatology and Child Health Female Syndactyly alpha-Fetoproteins Agenesis of Corpus Callosum business Chromosomes Human Pair 8 Facial symmetry |
| Zdroj: | Fetal Diagnosis and Therapy. 16:120-122 |
| ISSN: | 1421-9964 1015-3837 |
| DOI: | 10.1159/000053894 |
| Popis: | Constitutional mosaic trisomy 8 has been associated with syndromic dysmorphology, corneal opacities, leukemias, and trophoblastic disease. However, abnormal maternal serum alpha-fetoprotein (MSAFP) has not been reported in association with mosaic trisomy 8. Our case first presented for evaluation of an extremely elevated MSAFP with mild elevation of MShCG in an otherwise normal pregnancy: MSAFP 13.89 MoM, MShCG 3.57 MoM, and MSuE3 1.04 MoM. Fetal dysmorphism was limited to bilateral pyelectasis and a prominent third ventricle. Spontaneous labor at 38 weeks resulted in the birth of a 3,570-gram AGA male with APGARs 71/85. The neonate had facial asymmetry, 5th finger clinodactyly, 2–3 toe syndactyly, undescended testicle, abnormal prepuce, and mild pyelectasis. CT scan revealed hypoplasia of the corpus callosum, while echocardiography demonstrated bicuspid aortic valve, and the neonatal karyotype (blood) returned 46,XY/47,XY+8. Evaluation at 3 months revealed more prominent facial asymmetry, plagiocephaly, plantar creases, descent of the testis, and mild developmental delay. Review of the literature does not include any previously reported maternal serum alpha-fetoprotein aberrations in mosaic trisomy 8. |
| Databáze: | OpenAIRE |
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