Prenatal Genetics

Using sophisticated screening protocols to identify genetic abnormalities is critical to current prenatal care. The aim is to detect high-risk pregnancies and provide appropriate counseling to parents regarding their options. Guidelines generally recommend Invasive Prenatal Diagnostic Testing (IPDT) in conjunction with a positive screening test. Additional indications arise from medical history and sonography, with notable variations identified between guidelines. In this context, it is essential to note that prenatal whole exome sequencing (WES) is a viable approach that can enhance the ability to provide accurate diagnostic capabilities in fetuses with sonographic abnormalities. This can lead to improved counseling for families, which is particularly important considering the expanding field of in-utero fetal therapy.

This eBook will examine the following:

• Existing approaches to prenatal WES, along with clinical indications for its use  
• How VarSeq and VSClinical can be utilized for its use
• A few interesting cases of variants and their classifications

I recommend reading this eBook in conjunction with Clinical Variant Interpretation – Applying ACMG Guidelines to Analyze Germline Diseases" which is relevant for clinicians who need to report on hereditary diseases.