Specialty Category
Prenatal screening and diagnosis involve a series of tests performed during pregnancy to assess the health and development of the baby before birth. These tests help identify the risk of genetic disorders, chromosomal abnormalities, structural birth defects, and certain pregnancy-related complications.
This page groups the relevant Fetal Medicine & Clinical Genetics treatment and procedure pages already published in the EPIC CMS. It keeps the specialty overview clean while still exposing focused patient journeys.
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First Trimester Screening is a prenatal screening test performed between 11 and 13 weeks + 6 days of pregnancy to assess the risk of certain chromosomal abnormalities in the baby, including Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13). The screening combines a specialized ultrasound called the Nuchal Translucency (NT) Scan with maternal blood tests to evaluate the likelihood of these conditions.
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The Second Trimester Anomaly Scan, also known as the Targeted Anomaly Scan (TIFFA Scan) or Level II Ultrasound, is a detailed ultrasound examination performed between 18 and 22 weeks of pregnancy to evaluate the baby's growth, anatomy, and overall development. This scan helps detect structural abnormalities and congenital conditions affecting various organs and body systems.
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Non-Invasive Prenatal Testing (NIPT) is an advanced prenatal screening test that analyzes small fragments of the baby's DNA (cell-free fetal DNA) present in the mother's bloodstream to assess the risk of certain chromosomal abnormalities. It can be performed as early as 10 weeks of pregnancy through a simple maternal blood sample, making it a safe and non-invasive option for prenatal screening.
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Fetal Echocardiography is a specialized ultrasound examination performed during pregnancy to evaluate the structure and function of the baby's heart before birth. It provides detailed images of the fetal heart, allowing fetal medicine specialists and pediatric cardiologists to detect congenital heart defects, rhythm abnormalities, and other cardiac conditions at an early stage.
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Growth and Doppler Studies are specialized ultrasound examinations performed during pregnancy to monitor the baby's growth, well-being, and blood circulation. These assessments help fetal medicine specialists evaluate whether the baby is growing appropriately and receiving adequate oxygen and nutrients through the placenta.
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Multiple Pregnancy Monitoring is a specialized prenatal care program designed for women carrying twins, triplets, or higher-order multiple pregnancies. These pregnancies require closer surveillance than singleton pregnancies because they are associated with a higher risk of complications affecting both the mother and babies.
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