Delivering and receiving a postnatal diagnosis of Down syndrome is not an easy experience for most physicians or parents. In this study, 467 mothers of children with Down syndrome in Spain completed a survey about the postnatal support services they received immediately following the diagnosis of their child. Mothers reported feeling anxious, frightened, guilty, angry, and, in rare cases, suicidal. According to most mothers, physicians did not give adequate amounts of information about Down syndrome and rarely did they give enough printed materials or make referrals to parent support groups. Little seems to have changed since 1972. Mothers provided recommendations on how the Spanish medical system could be improved, with implications for other countries including the United States.

(Abstracted from Genet Med 2016;18(10):1056–1065) Rapid advancements in genomic technologies led to the introduction in 2011 of noninvasive prenatal screening (NIPS) that used cell-free DNA (cfDNA) derived from the placenta and circulating in maternal blood. Noninvasive prenatal screening is addressed in this American College of Medical Genetics and Genomics (ACMG) guideline to assist patients who are in search of prenatal screening information and health care providers who are responsible for providing precise and up-to-date information to their patients.