Chorionic Villus Sampling (CVS): A Comprehensive Guide to Genetic Testing in Early Pregnancy

Biopsy of placental tissue between 10-13 weeks gestation. Analyzed for fetal anomalies caused by genetic (chromosomal, metabolic, DNA) disorders. DOES NOT test for NTDs.

During the gestational period of 10-13 weeks, a biopsy of placental tissue can be performed to analyze the presence of fetal anomalies caused by genetic disorders

During the gestational period of 10-13 weeks, a biopsy of placental tissue can be performed to analyze the presence of fetal anomalies caused by genetic disorders. This procedure is known as chorionic villus sampling (CVS) and it involves obtaining a small sample of tissue from the placenta.

The purpose of this analysis is to identify genetic abnormalities such as chromosomal disorders (e.g., Down syndrome, Edwards syndrome, Patau syndrome), metabolic disorders (e.g., cystic fibrosis, Tay-Sachs disease), and DNA disorders (e.g., muscular dystrophy). These conditions are caused by alterations or mutations in the genetic material of the fetus.

CVS is typically performed under ultrasound guidance, where a thin needle or catheter is inserted through the abdomen or cervix to access the placenta. The placental tissue sample is then collected and sent to a laboratory for analysis.

It is important to note that this specific test does not screen for neural tube defects (NTDs) in the fetus. NTDs are abnormalities that affect the development of the neural tube, which forms the brain and spinal cord. Testing for NTDs usually involves a separate procedure, such as an ultrasound or amniocentesis.

Before undergoing a biopsy of placental tissue, it is crucial to discuss the procedure, its risks, and benefits with a healthcare professional, such as an obstetrician or a genetic counselor. They will be able to provide you with personalized information regarding the specific tests available and guide you through the decision-making process.

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