Clinical Services

Genetic Ultrasound

Introduction
Ultrasound examination of the fetus has become one of the most informative tools in pregnancy management. A genetic (or level 3) ultrasound examination is a specialized evaluation of the baby performed by a geneticist with expertise in both birth defects and genetic syndromes.

The baby is examined in a detailed manner like a newborn baby. Typical indications include a family history of a genetic disorder, a previous abnormal child, advanced maternal age, maternal illness, maternal medication or chemical exposure, and abnormal clinical or laboratory findings during the course of the pregnancy.

Often it is as important to rule out the presence of potential disorders as it is to establish a diagnosis, and in either case it is critical to be able to do so with confidence. The geneticists at Great Lakes Genetics have a a great deal of experience in the diagnosis and management of possible genetic disorders and birth defects. We have seen over 15,000 patients for virtually any type of birth defect or genetic problem. When necessary, the ultrasound findings are integrated with genetic laboratory test results and, where appropriate, further studies on the baby or other family members are conducted.

The physician geneticists at GLG specialize in the detailed prenatal ultrasound examination for specific birth defects and genetic syndromes. This requires an appreciation of the context of the situation, experience with fetal anatomy and development, and a detailed knowledge of birth defects and genetic disorders. It requires genetic resources that usually are not available to obstetricians or radiologists, namely colorflow and high resolution ultrasound, a genetic laboratory, a resource library on genetic syndromes, on-line teratogen information services, and experience in counseling and management of specific genetic disorders.

Description
High resolution 4D ultrasound with colorflow doppler provides a detailed examination of the fetus and uterine contents. This includes measurement of the fetal head, abdomen, extremities, and other structures. It consists of a detailed examination and description of fetal organs, including the skull bones, cranial sutures, brain structures, face, eyes, upper and lower lips, ears, neck, chest, lungs, heart, diaphragm, stomach and intestines, liver and gallbladder, kidneys and urinary bladder, arms, hands and fingers, legs and feet, rib cage and collar bones, as well as the axial skeleton and the skin overlying the spine.

It includes an assessment of fetal activity, including spontaneous movements of the trunk, arms, hands, fingers, legs, and feet, as well as observation of fetal swallowing and of the general muscle tone. Particular attention is paid to the appearance and movement of the heart valve and heart walls, as well as the blood flow in the umbilical cord. The placenta is measured and examined, and its size, appearance, and position are described. The number of umbilical vessels is determined, and the volume of amniotic fluid is assessed.

Procedure
The genetic ultrasound examination is conducted by a physician geneticist who is an expert in the field of birth defects and genetic syndromes. The geneticist examines the baby by ultrasound much like a pediatrician examines a newborn baby. The examination is an integrated component of the prenatal genetic evaluation and is interpreted in the context of the family pedigree and the pregnancy history. Typically, the results of the genetic ultrasound examination are definitive with regard to the presence or absence of the abnormality in question. The results can be stated with confidence because the geneticists at GLG have an extensive knowledge of genetic disorders and of their impact on the child and the family, and they have immediate access to an in-house genetic laboratory and database resources. A concise, easy-to-understand report is promptly issued to the referring physician. Usually a copy is made available to the patient.

Indications
The most common indications include:
• advanced maternal age
• abnormal prenatal ultrasound findings
• abnormal maternal serum screen results
• previous child with birth defect
• family history of genetic disorder

CPT Codes
76811 - ultrasound, fetal maternal evaluation
76825 - fetal echocardiogram