{Reference Type}: Review
{Title}: Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review.
{Author}: Lv X;Yang X;Li L;Yue F;Zhang H;Wang R;
{Journal}: Medicine (Baltimore)
{Volume}: 102
{Issue}: 43
{Year}: 2023 Oct 27
{Factor}: 1.817
{DOI}: 10.1097/MD.0000000000034852
{Abstract}: <B>BACKGROUND: </B>Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance.<BR><B>METHODS: </B>Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of abnormal ultrasound findings. Case 1 presented subependymal cyst and case 2 presented intrauterine growth restriction, persistent left superior vena cava and pericardial effusion in clinical ultrasound examination.<BR><B>METHODS: </B>Cytogenetic examination showed that the 2 fetuses presented normal karyotypic results. CMA detected 1.536 Mb (case 1) and 1.409 Mb (case 2) microdeletions in the region of 7q11.23 separately.<BR><B>METHODS: </B>Both couples opted for the termination of pregnancies based upon genetic counseling.<BR><B>RESULTS: </B>The deleted region in both fetuses overlapped with Williams-Beuren syndrome. To our knowledge, case 1 was the first reported fetus of Williams-Beuren syndrome with subependymal cyst.<BR><B>CONCLUSIONS: </B>The genotype-phenotype of Williams-Beuren syndrome is complicated due to the phenotypic diversity. For prenatal cases, clinicians should consider the combination of ultrasonography, traditional cytogenetic, and molecular diagnosis technology when genetic counseling.