Decisions for critically ill infants with trisomy 18 raise thorny issues about values, futility, the burdens of treatment, cost-effectiveness, and justice. We presented the case of an infant with trisomy 18 to 2 neonatologists with experience in clinical ethics, Annie Janvier and Felix Okah, and to a parent, Barbara Farlow. They do not agree about the right thing to do.

Chromosomal aneuploidy is one of the major causes of pregnancy wastage. In this review we summarize the knowledge about the origin and mechanisms of non-disjunction in human autosomal trisomies 8, 13, 15, 16, 18, and 21, accumulated during the last decade by using DNA polymorphism analysis. Maternal meiosis I non-disjunction is the most important single class, but chromosome-specific patterns e...

An abbreviated version of parts of this review by John Carey appeared in the newsletter of the International Trisomy Alliance (www. internationaltrisomyalliance.com) in 2015. Correspondence to: Tomoki Kosho, M.D., Department of Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan. E-mail: [email protected] Article first published online in...

OBJECTIVE To evaluate the clinical performance of non-invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell-free DNA (cfDNA) analysis. METHODS Targeted cfDNA analysis using DANSR™ and FORTE™ with microarray quantitation was used to evaluate the risk of trisomy 21, 18, and 13 in blinded samples from 799 singleton, twin, natural, and IVF pregnancies. Subjects either had fetal...

The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented. There are only 5 cases of trisomy 18 syndrome associated with ectrodactyly in the literature. We present a case of t...

Placenta growth factor (PIGF), an angiogenic factor belonging to the vascular endothelial growth factor family, pregnancy-associated plasma protein A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) were measured in maternal serum from 45 pregnancies with trisomy 21, 45 with trisomy 18 and 493 normal controls at 10-13 completed weeks of gestation. In the normal pregnancies matern...

PATIENT Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - MEDICATION - Clinical Procedure: - Specialty: Otolaryngology. OBJECTIVE Congenital defects. BACKGROUND Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertion...