OBJECTIVE: To determine the prevalence and the timing of pregnancy termination relative to the type of central nervous system (CNS) malformations. Design Retrospective cohort study. SETTING: Multidisciplinary centre for prenatal diagnosis in the Languedoc-Roussillon region, France. POPULATION: A cohort of 481 pregnancy terminations performed between 2005 and 2009. METHODS: Detailed post-termination fetal and neuropathological analyses were carried out to identify the CNS malformations. Then, the prevalence and timing of pregnancy termination were assessed relative to the identified malformations. RESULTS: About one-third of pregnancy terminations (143/481) were performed for severe CNS malformations. Up to 24 weeks of gestation (WG), pregnancy terminations (56.6%) were carried out mainly for defects occurring during the two major first steps of CNS development (neurulation and differentiation of cerebral vesicles). After 24 WG, pregnancy terminations (43.3%) were mainly performed for corpus callosum agenesis (16/17), vermian agenesis (10/12) and gyral anomalies (13/15). For hindbrain malformations and gyral anomalies, there was a significant relationship between the timing of pregnancy termination and the presence of a severe ventriculomegaly at prenatal diagnosis (p=0.002 and p=0.02, respectively). CONCLUSION: By classifying CNS malformations according to the neuropathological analysis, the authors show that the timing and prevalence of pregnancy termination are distributed in a manner that is consistent with what is currently known on the development of brain. They are also influenced by the French prenatal screening policy and the variable expressivity of the brain malformations and associated lesions.
OBJECTIVE: To determine the prevalence and the timing of pregnancy termination relative to the type of central nervous system (CNS) malformations. Design Retrospective cohort study. SETTING: Multidisciplinary centre for prenatal diagnosis in the Languedoc-Roussillon region, France. POPULATION: A cohort of 481 pregnancy terminations performed between 2005 and 2009. METHODS: Detailed post-termination fetal and neuropathological analyses were carried out to identify the CNS malformations. Then, the prevalence and timing of pregnancy termination were assessed relative to the identified malformations. RESULTS: About one-third of pregnancy terminations (143/481) were performed for severe CNS malformations. Up to 24 weeks of gestation (WG), pregnancy terminations (56.6%) were carried out mainly for defects occurring during the two major first steps of CNS development (neurulation and differentiation of cerebral vesicles). After 24 WG, pregnancy terminations (43.3%) were mainly performed for corpus callosum agenesis (16/17), vermian agenesis (10/12) and gyral anomalies (13/15). For hindbrain malformations and gyral anomalies, there was a significant relationship between the timing of pregnancy termination and the presence of a severe ventriculomegaly at prenatal diagnosis (p=0.002 and p=0.02, respectively). CONCLUSION: By classifying CNS malformations according to the neuropathological analysis, the authors show that the timing and prevalence of pregnancy termination are distributed in a manner that is consistent with what is currently known on the development of brain. They are also influenced by the French prenatal screening policy and the variable expressivity of the brain malformations and associated lesions.
Authors: Ashley P L Marsh; Delphine Heron; Timothy J Edwards; Angélique Quartier; Charles Galea; Caroline Nava; Agnès Rastetter; Marie-Laure Moutard; Vicki Anderson; Pierre Bitoun; Jens Bunt; Anne Faudet; Catherine Garel; Greta Gillies; Ilan Gobius; Justine Guegan; Solveig Heide; Boris Keren; Fabien Lesne; Vesna Lukic; Simone A Mandelstam; George McGillivray; Alissandra McIlroy; Aurélie Méneret; Cyril Mignot; Laura R Morcom; Sylvie Odent; Annalisa Paolino; Kate Pope; Florence Riant; Gail A Robinson; Megan Spencer-Smith; Myriam Srour; Sarah E M Stephenson; Rick Tankard; Oriane Trouillard; Quentin Welniarz; Amanda Wood; Alexis Brice; Guy Rouleau; Tania Attié-Bitach; Martin B Delatycki; Jean-Louis Mandel; David J Amor; Emmanuel Roze; Amélie Piton; Melanie Bahlo; Thierry Billette de Villemeur; Elliott H Sherr; Richard J Leventer; Linda J Richards; Paul J Lockhart; Christel Depienne Journal: Nat Genet Date: 2017-02-27 Impact factor: 38.330
Authors: Y Yaron; V Ofen Glassner; A Mory; N Zunz Henig; A Kurolap; A Bar Shira; D Brabbing Goldstein; D Marom; L Ben Sira; H Baris Feldman; G Malinger; K Krajden Haratz; A Reches Journal: Ultrasound Obstet Gynecol Date: 2022-07 Impact factor: 8.678