22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs

Volpe, P.; Marasini, Maurizio; Caruso, G.; Marzullo, Andrea; Buonadonna, A.; Arciprete, P; Paolo, Salvatore Di; Volpe, Gennaro; Gentile, Mattia

doi:10.1002/pd.682

Cited by 67 publications

(63 citation statements)

References 21 publications

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“…She also had long, slender fingers and low-set, overfolded ear helices. The IAA seen in VCFS is usually type B, but type A has been observed in association with 22q11 deletion (30). Thus, although the facial features were not typical for VCFS, this phenotypic overlap prompted examination of 22q11, and we questioned whether this overlap in genetic etiology reflected a common embryological pathway affected in the 2 conditions.…”

Section: Resultsmentioning

confidence: 99%

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

Randall¹,

McCue²,

Roberts³

et al. 2009

J. Clin. Invest.

100

143

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Aortic arch artery patterning defects account for approximately 20% of congenital cardiovascular malformations and are observed frequently in velocardiofacial syndrome (VCFS). In the current study, we screened for chromosome rearrangements in patients suspected of VCFS, but who lacked a 22q11 deletion or TBX1 mutation. One individual displayed hemizygous CHD7, which encodes a chromodomain protein. CHD7 haploinsufficiency is the major cause of coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness (CHARGE) syndrome, but this patient lacked the major diagnostic features of coloboma and choanal atresia. Because a subset of CHARGE cases also display 22q11 deletions, we explored the embryological relationship between CHARGE and VCSF using mouse models. The hallmark of Tbx1 haploinsufficiency is hypo/aplasia of the fourth pharyngeal arch artery (PAA) at E10.5. Identical malformations were observed in Chd7 heterozygotes, with resulting aortic arch interruption at later stages. Other than Tbx1, Chd7 is the only gene reported to affect fourth PAA development by haploinsufficiency. Moreover, Tbx1 +/-;Chd7 +/-double heterozygotes demonstrated a synergistic interaction during fourth PAA, thymus, and ear morphogenesis. We could not rescue PAA morphogenesis by restoring neural crest Chd7 expression. Rather, biallelic expression of Chd7 and Tbx1 in the pharyngeal ectoderm was required for normal PAA development.

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Section: Resultsmentioning

confidence: 99%

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

Randall¹,

McCue²,

Roberts³

et al. 2009

J. Clin. Invest.

100

143

View full text Add to dashboard Cite

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“…There were also reported several genetic disorders associated with CAT, such as: DiGeorge syndrome in approximatively 40% of the cases [16][17][18][19][20][21], trisomies 21, 18, or 13 in 4.5% of the cases [22,23], or even rare cases of trisomy 8 [24]. In addition, extracardiac malformations, such as genito-urinary abnormalities were also described in over 40% of the cases [19,21,22]. Similarly, Patel et al reported that out of 554 newborns diagnosed with truncus arteriosus, 204 cases presented the coexistence of noncardiac congenital anatomic abnormalities, genetic abnormalities, and syndromes (36.8%) [25].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of the fetal common arterial trunk. A case series

Mărginean¹,

Gozar

Mărginean

et al. 2018

Med Ultrason

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Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports of the literature.

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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: 83%

“…Our familial case of 22q11.2DS also didn't have CHD. Increased NT, polyhydramnios, IUGR, pulmonary arterial abnormalities, aortic arch anomalies, and thymic hypo/aplasia were found to be more frequent in fetuses with the deletion [Boudjemline et al, 2002;Volpe et al, 2003]. Prenatal ultrasound thymus examination showed 75% sensitivity and 94% specificity.…”

Section: Q112dsmentioning

confidence: 89%

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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22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs

Cited by 67 publications

References 21 publications

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

Prenatal diagnosis of the fetal common arterial trunk. A case series

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

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