21 February 2023 | Tuesday | News
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FetalExome test is a whole exome sequencing (WES) test available for women with potentially complicated pregnancies. The test examines and analyses the gene regions that code for proteins, known as the exome, which plays a critical role as these proteins form the building blocks of cells and allows specialists to diagnose fetal abnormalities and reveal the causes of fetal complications.
FetalExome is ordered when prenatal ultrasound imaging detects structural anomalies that is suggestive of genetic causes.
Fetal structural anomalies are common and affect about 2-4% of pregnancies. The American College of Medical Genetics and Genomics (ACMG) recommends the use of WES when a diagnosis cannot be obtained using routine prenatal methods in a fetus with one or more significant anomalies.1
FetalExome is offered as a trio analysis where sequencing is performed on both parents and the fetus for timely clinical management and decision-making.2
Chief Executive of iGene Laboratory, Kane Black remarked, "As arguably the fetal-maternal health pioneer in South East Asia, we are proud to launch another test to support mother's to be and their babies". Mr. Black further commented "with thousands of genes analysed at the same time, rather than one or a few genes at a time, FetalExome will allow doctors to potentially identify and/or administer the best specific treatments efficiently".
1. Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC; ACMG Professional Practice and Guidelines Committee. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(4):675-680. doi:10.1038/s41436-019-0731-7 |
2. Chau MHK, Choy KW. The role of chromosomal microarray and exome sequencing in prenatal diagnosis. Curr Opin Obstet Gynecol. 2021;33(2):148-155. doi:10.1097/GCO.0000000000000692 |
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