First-trimester screening: dealing with the fall-out

The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that their baby is developing as expected, there is no evidence to suggest that an earlier prenatal diagnosis has less long-term emotional impact than at later gestations. The poignancy of ultrasound images for many parents means that it can be especially difficult to manage the anxiety when an ultrasound marker is highlighted as potential cause for concern. They can then face a journey of anxiety-laden uncertainty, which can extend through much of the pregnancy, and even beyond. Professionals involved in screening need to recognise and acknowledge such adverse side-effects and develop the skills necessary to help parents understand and cope with the uncertainties inherent in the process. Copyright © 2011 John Wiley & Sons, Ltd.     

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype

We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype. Copyright © 2005 John Wiley & Sons, Ltd.