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Cytogenetic analysis of products of conception has identified trisomies for all human chromosomes except for chromosome 1. Presented here is a patient with clinical signs of pregnancy, including increasing hCG levels and evidence of a gestational sac on ultrasound. However, the pregnancy was lost between 8-9 weeks post-LMP with the diagnosis of a blighted ovum. Cytogenetic analysis of cultured chorionic villi demonstrated a 47,XY,؉1 chromosome complement in all cells. This is the first reported case of nonmosaic trisomy 1 in a clinically recognized human pregnancy. Am. J. Med. Genet. 68:98, 1997

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During the period 1987 through mid-1993, 118 490 chromosome analyses from amniocytes were performed at the Integrated Genetics Laboratories in Santa Fe, New Mexico (formerly Vivigen Laboratories). This report summarizes the data for all specimens submitted because of anomalies seen during ultrasound examination; this includes 44 different categories of anomalies. There were 3177 cases referred because of at least one structural abnormality; 494 (15.5 per cent) of the cases had an abnormal karyotype. Our cytogenetic findings are summarized for the different types of anomalies and the corresponding empirical risks are given for abnormal cytogenetic results.