Extreme Elevation of Maternal Serum Alpha-Fetoprotein Associated with Mosaic Trisomy 8 in a Liveborn

Abstract

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.

Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

“…Other features are cleft lip and/or palate, cardiac, renal, cerebral malformations, and mental retardation. Diverse chromosomal abnormalities have been associated with oculoauriculovertebral spectrum, such as trisomies of chromosomes 7, 8, 9, 10p, 22 [Hodes et al, 1981; Kobrynski et al, 1993; Pridjian et al, 1995; Miller et al, 2001; de Ravel et al, 2001; Dabir and Morrison, 2006], deletions in 1p22.2–p31.1, 5p14, 12p13.33, 18p, 22q11.2, 22qter [Buffoni et al, 1976; Herman et al, 1988; Derbent et al, 2003; Ala‐Mello et al, 2008; Callier et al, 2008; Xu et al, 2008; Digilio et al, 2009; Lafay‐Cousin et al, 2009; Rooryck et al, 2009], a duplication in 22q11q13 [Hathout et al, 1998], and unbalanced translocations including t(5;8)(p15.31;p23.1) [Josifova et al, 2004] and t(11;22)(q23;q11) [Balci et al, 2006]. Genetic linkage studies identified a locus in 14q32 containing the GSC (goosecoid) gene, but no mutation was found in this gene in patients with hemifacial microsomia [Kelberman et al, 2001].…”

Prenatal Diagnosis of Double Autosomal Mosaicism (47,XX,+8/47,XX,+14): Phenotype and Molecular Cytogenetic Analysis on Different Tissues

“…However, loss of the chromosome from the trisomic zygote derived from a normal gamete will produce an apparently normal diploid cell line with uniparental disomy [2]. Mosaicism for trisomy 8 has been diagnosed during the first trimester of pregnancy by detecting reverse end-diastolic ductus venosus flow [3] and during the second trimester by detecting an extreme elevation of maternal serum ·-fetoprotein [4]. Confined placental mosaicism for trisomy 14 and maternal uniparental isodisomy 14 in association with elevated second trimester maternal serum chorionic gonadotropin and Matheson/Matheson/McCorquodale/ Santolaya-Forgas third trimester fetal growth restriction has also been reported [5].…”