A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Besseau-Ayasse, Justine; Violle-Poirsier, C.; Bazin, Anne; Gruchy, Nicolas; Moncla, Anne; Girard, Françoise; Till, Marianne; Mugneret, Francine; Coussement, A.; Pelluard, Fanny; Jiménez, M.J. Ramos; Vago, Philippe; Portnoı̈, Marie-France; Dupont, Céline; Bénéteau, Claire; Amblard, Florence; Valduga, Mylène; Bresson, Jean Luc; Carré-Pigeon, F.; Meur, Nathalie Le; Tapia, Salazar; Yardin, Catherine; Receveur, Aline; Lespinasse, James; Pipiras, Eva; Beaujard, M; Teboul, P.; Brisset, Sophie; Catty, M.; Nowak, Ewa; Guilbert, N. Douet; Lallaoui, Hakima; Bouquillon, Sonia; Gatinois, Vincent; Joly‐Helas, Géraldine; Prieur, Fabienne; Cartault, François; Martin, Dominique; Kleinfinger, Pascale; Gomes, D. Molina; Doco‐Fenzy, Martine; Vialard, François

doi:10.1002/pd.4321

Cited by 52 publications

(99 citation statements)

References 25 publications

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“…The following data were requested: family history, the indication for genetic testing (clinical, biological and/or imaging data), the technique used for diagnosis, inheritance status, parental phenotype and age at diagnosis. Previously published data on fetuses with 22q11.2DS 10 were used to estimate the number of new 22q11.2DS cases per year between 2010 and 2012. Postnatally diagnosed cases were compared with prenatally diagnosed cases in terms of the prenatal ultrasound findings.…”

Section: Methodsmentioning

confidence: 99%

“…Considering the total number of karyotypes provided by the participating laboratories (data were available for 32 of the 37 laboratories participating in the prenatal study 10 and 27 of the 31 laboratories participating in the present postnatal study; Supplementary Data 4) and the overall number of cytogenetic diagnoses recorded by the French health authorities (both prenatal and postnatal), 30 the cytogenetics laboratories participating in the present study accounted for 60.5% of all prenatal diagnoses and 46.3% of postnatally diagnoses. The total annual incidence of new cases of 22q11.2DS is thus estimated to be at least 36 for prenatal diagnoses and 72 for postnatally diagnoses; 22q11.2DS is thus 20 times less frequent than trisomy 21.…”

Section: The Number Of New Cases Diagnosed Annuallymentioning

confidence: 99%

“…1,2 The phenotype is highly variableover 180 associated clinical manifestations already described -and ranges from severe, with life-threatening malformations, to nearly asymptomatic cases. The major clinical features include congenital heart defects (CHDs), palate defects (velopharyngeal insufficiency, cleft palate, etc), mild-to-moderate immunodeficiency (because of thymic aplasia or hypoplasia), hypocalcemia caused by hypoparathyroidism, a distinct gestalt, developmental delay (DD), learning 1 Département de Génétique, CHU de Reims, Reims, France; 2 Service de Cytogénétique, Hôpital Poissy/Saint-Germain-en-Laye, Poissy, France; 3 Service de Cytogénétique, CHU de Lyon, Lyon, France; 4 CHU Bordeaux, Génétique Médicale, Bordeaux, France; 5 Laboratoire de Cytogénétique, CHU de Marseille, Marseille, France; 6 CHU Nantes, Service de Génétique Médicale, Inserm UMR957, Faculté de Médecine, Nantes, France; 7 Laboratoire de Cytogénétique Pasteur-Cerba, Saint-Ouen l'Aumône, France; 8 Service de Cytogénétique, CHU de Necker, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; 9 Service de Cytogénétique, CHU de Besançon, Besançon, France; 10 Service de Cytogénétique, Biolille, Lille, France; 11 Service de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France; 12 Laboratoire de Cytogénétique Postnatal, CHU Clemenceau, Caen, France; 13 Service de Cytogénétique et Biologie de la Reproduction, CHRU de Brest, Brest, France; 14 Service de Cytogénétique, CHU de Robert Debré, Paris, France; 15 Service de Cytogénétique, CHU de Strasbourg, Strasbourg, France; 16 Service de Cytogénétique, CHU de Tours, Tours, France; 17 Service de Cytogénétique, CHU de Nancy, Nancy, France; 18 Laboratoire de Cytogénétique Cylab, La Rochelle, France; 19 Service de Cytogénétique, Hôpital de Saint-Denis, Saint-Denis de la Réunion, France; disabilities, intellectual disability (ID) and behavioral disturbances. [3][4][5] Renal, ocular and skeletal anomalies have also been observed.…”

Section: Introductionunclassified

“…9 Of the inherited deletions, 72 to 77% are of maternal origin. 3,8,10 The 22q11.2 region contains eight low copy repeats (LCRs, referred to as LCR22-A to LCR22-H). The deletion results from nonallelic LCR-mediated, homologous recombination during meiosis.…”

Section: Introductionmentioning

confidence: 99%

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Poirsier¹,

Besseau-Ayasse²,

Schluth-Bolard³

et al. 2015

Eur J Hum Genet

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Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼ 66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

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Section: Methodsmentioning

confidence: 99%

Section: The Number Of New Cases Diagnosed Annuallymentioning

confidence: 99%

Section: Introductionunclassified

Section: Introductionmentioning

confidence: 99%

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Poirsier¹,

Besseau-Ayasse²,

Schluth-Bolard³

et al. 2015

Eur J Hum Genet

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“…Early recognition and treatment of neonatal seizures and hypocalcemia in 22q11.2DS may be associated with fewer severe cognitive outcomes (Cheung et al 2014a). A recent French study reported that in cases where 22q11.2DS was diagnosed prenatally, parents decided to electively terminate the pregnancy in 68.9 % of cases with a similar rate (57.1 %) when the deletion in the fetus was inherited and the parent was aware of his/her deletion at the time of diagnosis (Besseau-Ayasse et al 2014). This is considerably higher than the 14.0 % rate of elective terminations in our cohort.…”

Section: The Case For Early Diagnosis and Effective Genetic Counselingmentioning

confidence: 99%

Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

Chan

Costain

Ogura

et al. 2015

Journal of Genetic Counseling

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Correspondence to: Anne S. Bassett. Conflict of Interest StatementsChrystal Chan, Gregory Costain, Lucas Ogura, Candice K. Silversides, Eva W.C. Chow, and Anne S. Bassett declare that they have no conflict of interest.Human Studies and Informed Consent All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study. .2DS, compared with expectations for the general population, showed a significantly elevated prevalence of small for gestational age liveborn offspring (p<0.001), associated mainly with infants with 22q11.2DS. Stillbirths also showed elevated prevalence (p<0.05). Not all observed adverse events appeared to be attributable to transmission of the 22q11.2 deletion. Recurring issues relevant to reproductive health in 22q11.2DS included the potential impact of maternal morbidities, inadequate social support, unsafe sexual practices, and delayed diagnosis of 22q11.2DS and/or lack of genetic counseling. These preliminary results emphasize the importance of early diagnosis and long term follow-up that could help facilitate genetic counseling for men and women with 22q11.2DS. We propose initial recommendations for pre-conception management, educational strategies, pre-natal planning, and preparation for possible high-risk pregnancy and/or delivery. Animal Studies

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Fetal phenotype associated with the 22q11 deletion

Noel

Pelluard

Delezoide

et al. 2014

American J of Med Genetics Pt A

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The 22q11 deletion syndrome is one of the most common human microdeletion syndromes, with a wide spectrum of abnormalities. The fetal phenotype associated with the 22q11 deletion is poorly described in the literature. A national retrospective study was performed from 74 feto-pathological examinations. The objectives were to evaluate the circumstances of the 22q11 deletion diagnosis and to describe fetal anomalies. Post mortem examinations were performed after 66 terminations of pregnancy and eight fetal deaths. The series included nine fetuses from the first trimester, 55 from the second trimester, and ten from the third trimester. A 22q11 FISH analysis was recommended for 57 fetuses after multidisciplinary prenatal diagnostic counseling and for 17 fetuses by a fetal pathologist. Conotruncal heart defects were the most common anomalies (65 fetuses), followed by thymus defects (62 fetuses), and malformations of the urinary tract (25 fetuses). This study identified several unusual and severe features rarely described in the literature. Neurological abnormalities were described in ten fetuses, with seven neural tube defects and five arhinencephalies. This series also included lethal malformations: two hypoplastic left heart syndromes, two bilateral renal agenesis, and one tracheal agenesis. Genetic analysis for a 22q11 deletion is usually indicated when a congenital conotruncal heart and/or thymus defect is detected, but might also be useful in case of other lethal or severe malformations that initially led to the termination of pregnancy.

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A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Cited by 52 publications

References 25 publications

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

Fetal phenotype associated with the 22q11 deletion

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