Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion

Oh, Dong Chul; Min, Jin‐Young; Lee, Moon Hee; Kim, Young Mi; Park, So Yeon; Won, Hea Sung; Kim, In Kyu; Lee, Young Ho; Yoo, Shi Joon; Ryu, Hyun Mee

doi:10.3346/jkms.2002.17.1.125

Cited by 11 publications

(3 citation statements)

References 23 publications

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“…8 Chromosome 22q11 microdeletion may be seen in 11%-34% of cases. 5,9,10 There is a 16% association with noncardiac anomalies. Although TOF is not an essential component of any syndrome, it is frequently associated with malformation groups (e.g., cardiofacial, CHARGE, VACTERL) and has been described in Lange, Goldenhar, and KlippleFeil syndromes.…”

Section: Discussionmentioning

confidence: 99%

Prenatal sonographic diagnosis of tetralogy of fallot

Tongsong

Sittiwangkul

Chanprapaph

et al. 2005

J. Clin. Ultrasound

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The objective of this report was to emphasize the sonographic findings of tetralogy of Fallot (TOF) during the prenatal period. Four fetuses with TOF were prenatally diagnosed at gestational ages of 25, 28, 25, and 32 weeks. Based on this small series, prenatal sonographic findings suggestive of TOF may be summarized as follows: (1) a large aortic root, which is the most common prenatal sonographic finding, (2) a small pulmonary artery or stenosis of the right ventricular outflow tract, (3) a ventricular septal defect in the outlet portion of the septum, (4) an overriding aorta, which is best seen in the long-axis view, and (5) right ventricular hypertrophy. Other findings such as hydrops fetalis or polyhydramnios may also be helpful especially in the case of dysplastic pulmonary valves. The demonstration of a normal aortic root would render the presence of TOF unlikely. TOF with pulmonary atresia can be confused with truncus arteriosus, in which both pulmonary arteries arise from the ascending aorta. How-ever, with careful examination along the course of the ascending aorta, there are no branches arising from the aorta in TOF.

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Section: Discussionmentioning

confidence: 99%

Prenatal sonographic diagnosis of tetralogy of fallot

Tongsong

Sittiwangkul

Chanprapaph

et al. 2005

J. Clin. Ultrasound

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“…Many adults with 22q11.2DS are only diagnosed following the birth of a more severely affected offspring (Cirillo et al 2014;Devriendt et al 1997;McDonald-McGinn et al 2001;Oh et al 2002;Patel et al 2006). Whether the apparent inter-generational worsening of the 22q11.2DS phenotype in familial cases is solely related to ascertainment and other biases is unclear (Cirillo et al 2014;Costain et al 2011).…”

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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“…The patient was followed-up loss at 30 weeks (Table 4). 20) Although a limitation of this study is the relatively small number of fetuses with 22q11.2 deletions that were included in our sample, not only was a relationship between prenatal echocardiographic findings and 22q11.2 deletions established, but the prevalence of 22q11.2 deletions in fetuses with TOF was revealed for the first time in a Korean sample. At the same time, our results agree with those of previous studies regarding the frequency of 22q11.2 deletions.…”

Section: Discussionmentioning

confidence: 99%