Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

The results of prenatal screening in the group of 2285 pregnant women from Western Pomeranian Region of Poland diagnosed between 2005-2006.

UNLABELLED: In the following paper we have presented the results of non-invasive and invasive prenatal diagnostic tests performed on 2285 pregnant women from the Western-Pomeranian Region between 2005 and 2006. MATERIAL AND METHODS: Retrospective analysis of screening tests on 2285 pregnant women. Medical history, including age, weight, familial data pedigrees up to third degree relatives, accompanying diseases, gestational complications in the family, type, dosage and period of any drugs intake, was obtained. Sonographic screening and evaluation of maternal serum PAPP-A and betaHCG levels. RESULTS: Screening tests identified 4.5% high-risk pregnancies in this group. 69% of the patients consented to invasive diagnosis. As a result, genetic anomalies were detected in 43.7% of cases. Significant differences in betaHCG levels correlated with oral gestagens intake and place of residence (coastal areas). CONCLUSION: Broad use of certified non-invasive methods of prenatal screening allow substantial reduction of invasive procedures with high levels of positive prediction. Medical drugs intake as well as place of inhabitation may influence on free betaHCG levels.