Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn

Constitutional mosaic trisomy 8 has been associated with syndromic dysmorph ology, corneal opacities, leukemias, and trophoblastic disease. However, ab normal maternal serum alpha-fetoprotein (MSAFP) has not been reported in as sociation with mosaic trisomy 8. Our case first presented for evaluation of an extremely elevated MSAFP with mild elevation of MShCG in an otherwise n ormal 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 ven tricle. Spontaneous labor at 38 weeks resulted in the birth of a 3,570-gram AGA male with APGARs 7(1)/8(5). The neonate had facial asymmetry, 5th fing er 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 neonata l karyotype (blood) returned 46,XY/47,XY+8. Evaluation at 3 months revealed more prominent facial asymmetry, plagiocephaly, planter creases, descent o f the testis, and mild developmental delay. Review of the literature does n ot include any previously reported maternal serum alphafetoprotein aberrati ons in mosaic trisomy 8. Copyright (C) 2001 S. Karger AG, Basel.