OBJECTIVE: The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions. We performed a collaborative, retrospective analysis in France of prenatal diagnoses and outcomes of fetuses carrying the del22q11.2. METHODS: A total of 272 fetuses were included. Data on prenatal diagnosis, ultrasound findings, pathological features, outcomes and inheritance were analyzed. RESULTS: The mean time of prenatal diagnosis was 25.6 ± 6 weeks of gestation. Most of the diagnoses (86.8%) were prompted by abnormal ultrasound findings [heart defects (HDs), in 83.8% of cases]. On fetal autopsy, HDs were again the most common disease feature, but thymus, kidney abnormalities and facial dysmorphism were also described. The deletion was inherited in 27% of cases. Termination of pregnancy (TOP) occurred in 68.9% of cases and did not appear to depend on the inheritance status. However, early diagnosis was associated with a higher TOP rate. CONCLUSION: This is the largest cohort of prenatal del22q11.2 diagnoses. As in postnatally diagnosed cases, HDs were the most frequently observed abnormalities. However, thymus and kidney abnormalities and polyhydramnios should also be screened for in the prenatal diagnosis of del22q11.2. Only the time of diagnosis appeared to be strongly associated with the pregnancy outcome: the earlier the diagnosis, the higher the TOP rate.
OBJECTIVE: The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions. We performed a collaborative, retrospective analysis in France of prenatal diagnoses and outcomes of fetuses carrying the del22q11.2. METHODS: A total of 272 fetuses were included. Data on prenatal diagnosis, ultrasound findings, pathological features, outcomes and inheritance were analyzed. RESULTS: The mean time of prenatal diagnosis was 25.6 ± 6 weeks of gestation. Most of the diagnoses (86.8%) were prompted by abnormal ultrasound findings [heart defects (HDs), in 83.8% of cases]. On fetal autopsy, HDs were again the most common disease feature, but thymus, kidney abnormalities and facial dysmorphism were also described. The deletion was inherited in 27% of cases. Termination of pregnancy (TOP) occurred in 68.9% of cases and did not appear to depend on the inheritance status. However, early diagnosis was associated with a higher TOP rate. CONCLUSION: This is the largest cohort of prenatal del22q11.2 diagnoses. As in postnatally diagnosed cases, HDs were the most frequently observed abnormalities. However, thymus and kidney abnormalities and polyhydramnios should also be screened for in the prenatal diagnosis of del22q11.2. Only the time of diagnosis appeared to be strongly associated with the pregnancy outcome: the earlier the diagnosis, the higher the TOP rate.
Authors: Erica Schindewolf; Nahla Khalek; Mark P Johnson; Juliana Gebb; Beverly Coleman; Terrence Blaine Crowley; Elaine H Zackai; Donna M McDonald-McGinn; Julie S Moldenhauer Journal: Am J Med Genet A Date: 2018-07-28 Impact factor: 2.802
Authors: Daniel W Meechan; Thomas M Maynard; Eric S Tucker; Alejandra Fernandez; Beverly A Karpinski; Lawrence A Rothblat; Anthony-S LaMantia Journal: Prog Neurobiol Date: 2015-04-09 Impact factor: 11.685
Authors: Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino Journal: Am J Med Genet A Date: 2018-04-16 Impact factor: 2.802
Authors: Esther Lopez-Rivera; Yangfan P Liu; Miguel Verbitsky; Blair R Anderson; Valentina P Capone; Edgar A Otto; Zhonghai Yan; Adele Mitrotti; Jeremiah Martino; Nicholas J Steers; David A Fasel; Katarina Vukojevic; Rong Deng; Silvia E Racedo; Qingxue Liu; Max Werth; Rik Westland; Asaf Vivante; Gabriel S Makar; Monica Bodria; Matthew G Sampson; Christopher E Gillies; Virginia Vega-Warner; Mariarosa Maiorana; Donald S Petrey; Barry Honig; Vladimir J Lozanovski; Rémi Salomon; Laurence Heidet; Wassila Carpentier; Dominique Gaillard; Alba Carrea; Loreto Gesualdo; Daniele Cusi; Claudia Izzi; Francesco Scolari; Joanna A E van Wijk; Adela Arapovic; Mirna Saraga-Babic; Marijan Saraga; Nenad Kunac; Ali Samii; Donna M McDonald-McGinn; Terrence B Crowley; Elaine H Zackai; Dorota Drozdz; Monika Miklaszewska; Marcin Tkaczyk; Przemyslaw Sikora; Maria Szczepanska; Malgorzata Mizerska-Wasiak; Grazyna Krzemien; Agnieszka Szmigielska; Marcin Zaniew; John M Darlow; Prem Puri; David Barton; Emilio Casolari; Susan L Furth; Bradley A Warady; Zoran Gucev; Hakon Hakonarson; Hana Flogelova; Velibor Tasic; Anna Latos-Bielenska; Anna Materna-Kiryluk; Landino Allegri; Craig S Wong; Iain A Drummond; Vivette D'Agati; Akira Imamoto; Jonathan M Barasch; Friedhelm Hildebrandt; Krzysztof Kiryluk; Richard P Lifton; Bernice E Morrow; Cecile Jeanpierre; Virginia E Papaioannou; Gian Marco Ghiggeri; Ali G Gharavi; Nicholas Katsanis; Simone Sanna-Cherchi Journal: N Engl J Med Date: 2017-01-25 Impact factor: 91.245
Authors: Chrystal Chan; Gregory Costain; Lucas Ogura; Candice K Silversides; Eva W C Chow; Anne S Bassett Journal: J Genet Couns Date: 2015-01-13 Impact factor: 2.537
Authors: Lily Van; Nancy J Butcher; Gregory Costain; Lucas Ogura; Eva W C Chow; Anne S Bassett Journal: Genet Med Date: 2015-06-18 Impact factor: 8.822