Background: The demand for molecular prenatal diagnosis (PD) of inherited diseases to help high-risk couples make informed reproductive decisions has increased in the past decade. Methods: We provided multidisciplinary pre-test counselling to 1248 couples at high risk of having a child affected by an inherited disease. Results: After multidisciplinary counselling, 1171 couples requested PD for one of 73 inherited diseases. Of these, 995 (85.0%) were performed on DNA from chorionic villi (CV) and 176 (15.0%) on samples from amniocentesis. The occurrence of pregnancy loss (0.6%) and major complications did not differ significantly between the two groups. We made a diagnosis in all cases (including 8 twin pregnancies) except in 4/995 cases of CV sampling (0.4%) and in 3/176 of amniocentesis (1.7%) due to insufficient DNA. In 15 cases, molecular analysis revealed non-paternity. Conclusions: PD by analysis of foetal DNA from CV is a reliable aid in reproduction decision-making for couples at high risk of inherited diseases. The complexity of experimental procedures and the specific expertise required for the pre- and post-test multidisciplinary counselling suggest that PD be performed in reference centres also within the framework of supranational networks.

Prenatal diagnosis of inherited diseases: 20 years? experience of an Italian Regional Reference Centre / Maruotti, GIUSEPPE MARIA; Frisso, Giulia; G., Calcagno; Fortunato, Giuliana; Castaldo, Giuseppe; Martinelli, Pasquale; Sacchetti, Lucia; Salvatore, Francesco. - In: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. - ISSN 1437-4331. - 51:12(2013), pp. 2211-2217. [10.1515/cclm-2013-0194]

Prenatal diagnosis of inherited diseases: 20 years? experience of an Italian Regional Reference Centre

MARUOTTI, GIUSEPPE MARIA;FRISSO, GIULIA;FORTUNATO, GIULIANA;CASTALDO, GIUSEPPE;MARTINELLI, PASQUALE;SACCHETTI, LUCIA;SALVATORE, FRANCESCO
2013

Abstract

Background: The demand for molecular prenatal diagnosis (PD) of inherited diseases to help high-risk couples make informed reproductive decisions has increased in the past decade. Methods: We provided multidisciplinary pre-test counselling to 1248 couples at high risk of having a child affected by an inherited disease. Results: After multidisciplinary counselling, 1171 couples requested PD for one of 73 inherited diseases. Of these, 995 (85.0%) were performed on DNA from chorionic villi (CV) and 176 (15.0%) on samples from amniocentesis. The occurrence of pregnancy loss (0.6%) and major complications did not differ significantly between the two groups. We made a diagnosis in all cases (including 8 twin pregnancies) except in 4/995 cases of CV sampling (0.4%) and in 3/176 of amniocentesis (1.7%) due to insufficient DNA. In 15 cases, molecular analysis revealed non-paternity. Conclusions: PD by analysis of foetal DNA from CV is a reliable aid in reproduction decision-making for couples at high risk of inherited diseases. The complexity of experimental procedures and the specific expertise required for the pre- and post-test multidisciplinary counselling suggest that PD be performed in reference centres also within the framework of supranational networks.
2013
Prenatal diagnosis of inherited diseases: 20 years? experience of an Italian Regional Reference Centre / Maruotti, GIUSEPPE MARIA; Frisso, Giulia; G., Calcagno; Fortunato, Giuliana; Castaldo, Giuseppe; Martinelli, Pasquale; Sacchetti, Lucia; Salvatore, Francesco. - In: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. - ISSN 1437-4331. - 51:12(2013), pp. 2211-2217. [10.1515/cclm-2013-0194]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/549103
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