![]() TOF usually has a favor prognosis after operation, if genetic syndrome could be excluded. CMA could detect a 6.6–25% incremental yield of CNVs in CHDs and subchromosomal rearrangements could interpret the molecular genesis of heart defects. CMA now is considered as gold standard for detecting genetic anomalies in fetuses with congenital malformations. Ĭhromosomal microarray analysis (CMA) was recently used to detect microdeletions and microduplications prenatally, which was called as copy number variations (CNVs), aiming to exclude fetuses with genetic syndrome. Previous literatures have shown that a chromosome alteration in about 30% patients with TOF and recently published articles reported that 22q11.2 deletion syndrome accounts for 16% cases with TOF diagnosed postnatally. ![]() The etiology of TOF is complex and the genesis of TOF has been associated with environmental factors and genetic disorders, including chromosomal anomalies, aneuploidies, 22q11.2 deletion and single-gene disease. A combination of anterocephalad deviation of the outlet septum and abnormal septoparietal trabeculations is now accepted as the hallmark of TOF. Genetic testing should be offered, specially using microarray analysis, for the fetal TOF with abnormal cardiac angle or extracardiac defects.įetal tetralogy of Fallot (TOF) and its variants comprise ventricular septal defect, overriding aorta and outflow obstruction of right ventricle, with an occurrence of about 8–12% in infants suffering with congenital heart diseases (CHDs). On the other hand, abnormal cardiac angle was noticed in 64.3% fetal TOF with genetic anomalies while abnormal cardiac angle occurred in 17.1% fetal TOF with normal genetic results ( P = 0.001). Genetic anomalies were more common in the TOF with abnormal cardiac angle than with normal cardiac angle ( P = 0.001). ![]() Abnormal cardiac angle was noticed in 24.0% fetal TOF. ![]() Genetic anomalies, including chromosomal aberrations and pathogenic CNVs, were significantly higher in the TOF with extracardiac anomaly group than in the TOF without extracardiac anomaly group ( P = 0.005). A total of four cases with 22q11.2 microdeletion and two fetuses with Yq11.223q11.23 microduplication have been identified. Clinically significant CNVs occurred in 6.8% and uncertain significant CNVs in 3.4% fetal TOF with normal karyotype. One fetus with trisomy 18, one with 46, XX, t (7 10)(q36 q22), one with 47, XYY and five with trisomy 21 were identified. Right aortic arch was the most common associated anomalies (22.9%). Ninety-six fetuses with TOF and known genetic results were enrolled. Prenatal ultrasongraphic findings, including cardiac angle, and the findings of CMA using Affymetrix CytoScan HD array were collected. This retrospective study reviewed all the fetuses diagnosed with TOF between 20. The aim of this study was to assess the genetic anomalies in fetal tetralogy of Fallot (TOF) by using high-definition CMA. CMA could detect a 6.6–25% incremental yield of CNVs in CHDs. ![]() ![]()
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