Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype.

Background: Microarray analysis testing on products of conception can provide valuable information in the evaluation of recurrent pregnancy loss beyond ploidy status.

Case: A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a couple with recurrent pregnancy loss. The mother had a previously demonstrated normal karyotype with standard cytogenetic analysis but was subsequently determined to have the same X chromosome deletion by oligonucleotide single-nucleotide polymorphism (SNP) microarray analysis.

Look on the bright side: a case study of uveitis.

This article explores the contemporary approach to the care of patients with uveitis, an inflammation of the uvea or middle layer of the eye, including the etiology, symptoms, diagnosis, types, and contemporary treatment of this serious ophthalmic condition. Uveitis represents the third-leading cause of blindness in developed countries. Vision loss with this disease occurs usually as a result of very slow damage to the macula, which is the consequence of low-grade chronic inflammation.

Elevated maternal serum alpha-fetoprotein with low unconjugated estriol and the risk for lethal perinatal outcome.

Objective: To determine whether a combination of elevated maternal serum alpha-fetoprotein (MSAFP) and low unconjugated estriol (E3) concentration identifies pregnancies at particularly high risk for fetal abnormality or poor outcome.

Methods: Pregnancy outcomes were reviewed for women with elevated MSAFP (> or =2.0 MoM) from our database of 50,315 women who had received triple marker testing from 1993-1998.

Trisomy 16 mosaicism in amniotic fluid cell cultures.

Trisomy 16 mosaicism was found in amniotic fluid cells in a patient undergoing amniocentesis because of elevated second-trimester maternal serum alpha-fetoprotein (MSAFP) (2.80 MOM), a markedly elevated human chorionic gonadotropin level (hCG) (12.02 MOM), and a Down syndrome risk of 1:55.