Fig. 6

Comprehensive study of CHD. Prenatally identified CHD by fetal echocardiography (a1, b1, c1) was confirmed with MRI (b2, c2), pathological autopsy (a3, b3, c3), and genetic studies of microarray that showed microdeletion (a2) or genome wide sequencing (not shown). Three cases are presented to demonstrate the prenatally fetal-echocardiography-screening were verified and confirmed with MRI, autopsy, and genetic/genomic approach. Case 1 (a): DiGeorge syndrome was observed with DORV by prenatal ultrasound (a1) and verified in pathological autopsy (a3). Genetic study with a microarray (a2) determined a microdeletion of 2,825,77Kb at chromosome 22q11.21 between 22.18920346-21746118, which fell into the DiGeorge critical region (DGCR) that embeds 69 genes. Case 2 (b); CHARGE syndrome was observed with AVSD by prenatal ultrasound (b1) and verified in pathological autopsy (a3). Genetic study with a microarray (a2), confirmed by a 7T MRI (as pointed by arrow in b2), verified by a single nucleotide deletion c.6482del at gene CHD7 (NM_017780.3), which resulted in a frameshift mutation p.His2161Leufs54 and produced a mutant C-terminal peptide of CHD7 protein. Case 3 (c): Noonan syndrome (type X) was identified with a TOF presented by VSD, PA, and ARCH in the echocardiography (c1), which was confirmed by a 7T MRI (c2) and pathological autopsy (c3). GWS determined a single nucleotide mutation c.309C>A at gene LZTR1 (NM_006767.3), resulting in a nonsense mutation of p.Cyc103* that truncated C-terminus of LZTR1 protein