Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome

Bretelle, Florence; Beyer, Laura; Pellissier, Marie Christine; Missirian, Chantal; Sigaudy, Sabine; Gamerre, M.; D’ercole, C.; Philip, Nicole

doi:10.1016/j.ejmg.2010.07.008

Cited by 46 publications

(49 citation statements)

References 31 publications

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“…Even though the CHD was generally a conotruncal disorder (including tetralogy of Fallot, interrupted aortic arch, etc), the most common CHD in our postnatally diagnosed patients was an isolated septal defect. The literature data on cases of 22q11.2DS (most of which are diagnosed postnatally) suggest that the frequency of a CHD is between 31.1 and 80.0%, 1,3,5,7,8,32,33 with tetralogy of Fallot and a ventricular septal defect being the most frequent. 3,7,8,33,34 Of the 15 patients diagnosed using aCGH, 3 had a CHD (including 2 with a deletion encompassing the TBX1 gene that is strongly suspected to be involved in CHDs 18 ) and the third patient (patient 15) had a distal deletion encompassing CRKL (also suspected to be involved in Postnatal diagnosis of 22q11 deletions C Poirsier et al CHDs 23 ) (Figure 3).…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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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“…However, the clinical diagnosis of 22q11.2 microdeletion is often more difficult to establish, especially in the neonatal period. Actually, CHD is reported in at least 50% of cases [23]; its diagnosis is mostly a delayed acquisition, or neurodevelopmental disorders appear, often associated with facial dysmorphism. Thus, it is difficult to completely exclude the presence of a 22q11.2 microdeletion in the neonatal period in an asymptomatic newborn without CHD.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Pico¹,

Mancini

Lafouge³

et al. 2016

Fetal Diagn Ther

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Objective: The objective of this study was to determine the frequency and the nature of associated anomalies, especially malformations and chromosome abnormalities, in a population of fetuses with an aberrant right subclavian artery (ARSA). Materials and Methods: This is a 7-year descriptive study. All patients whose fetus had an ARSA diagnosed by ultrasound performed during the 1st, 2nd, or 3rd trimester of pregnancy were included, regardless of their risk of chromosomal abnormalities. Results: Between May 2007 and April 2014, an ARSA was diagnosed in 120 fetuses. The outcome was found in 108 cases (90%). ARSA was an isolated finding in 54/108 cases (50%). In 20% (22/108) of the fetuses, chromosomal abnormalities were detected. No chromosomal abnormalities were found in fetuses with an isolated ARSA. 82% (18/22) of chromosomal abnormalities were usual, such as trisomies 21 and 18, monosomy X, and 22q11.2 deletion. 21% (23/108) of the fetuses presenting an ARSA were associated with having a congenital heart disease. Conclusion: The presence of an isolated ARSA is a condition rarely associated with a chromosomal abnormality. The decision to perform an invasive karyotyping procedure under such circumstances or not may be made according to the principle of parental autonomy after extensive counselling and mostly a thorough assessment of the fetus.

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“…Numerous studies have confirmed the high occurrence of 22q11.2DS after prenatal detection of cardiac anomalies [Volpe et al, 2003;Bretelle et al, 2010;Liu et al, 2010]. The prevalence of 22q11.2DS is more noticeable in the prenatal than the postnatal period [Iserin et al, 1998;Boudjemline et al, 2002].…”

Section: Q112dsmentioning

confidence: 80%

Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers

Shetty

Srikanth

Kadandale

et al. 2016

Cytogenet Genome Res

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Congenital heart defect (CHD) is the most common form of birth defects. There is a high association between increased nuchal translucency and CHD in fetuses, and CHD in the antenatal period has a high incidence of 22q11.2 deletion syndrome (22q11.2DS). Apart from 22q11.2DS, the BRUNOL3 gene at 10p14 is also associated with DiGeorge-like features. We studied a total of 110 pre- and postnatal CHD cases with FISH probes. 22q11.2DS was detected in 5 cases and 10p14 deletion in 1 case. Antenatally diagnosed cases of CHD should be investigated by karyotyping and 22q11.2DS testing. Cases with increased nuchal translucency, intrauterine growth retardation, and other non-cardiac malformations because of 22q11.2DS should be screened carefully for thymus dysgenesis. It is also advisable to screen patients referred for 22q11.2DS for a 10p14 deletion, therefore enabling appropriate parental counseling.

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Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome

Cited by 46 publications

References 31 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

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers

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