Yale First–Trimester Risk Assessment Provides New Test With Immediate Results

Yale Maternal–Fetal Medicine, a practice of the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale School of Medicine, has launched a new First–Trimester Risk Assessment program that provides expectant parents with immediate results at the time of the ultrasound to estimate the risk of having a baby with chromosomal abnormalities like Down syndrome or trisomy 18.

This significant advance gives patients instant reassurance with low–risk results, or the ability to speak with a genetic counselor if significant concerns are evident. If invasive testing is desired, it can be performed without delay.

Until now, blood had to be drawn on the day of the ultrasound and results were not available until a week later. The Yale First–Trimester Risk Assessment is a safe, non–invasive method involving blood analysis and ultrasound. During the test, a specially certified sonographer conducts an ultrasound examination to measure a characteristic called nuchal translucency at the back of the baby’s neck. Simple blood tests are then used to detect the presence of certain proteins and hormones in the blood. A highly accurate computer algorithm is used to combine the results of these tests to determine the statistical likelihood of the baby having Down syndrome or trisomy 18.

A high–risk result means further evaluation will be recommended to look for or to rule out many possible problems. Most women with high–risk results have normal follow–up tests and healthy babies.

Down syndrome is the most common chromosomal abnormality among live births and the most frequent form of mental retardation caused by a chromosomal abnormality. Trisomy 18 is a more severe chromosomal disorder. Babies with trisomy 18 are typically born with multiple birth defects, profound retardation, and few live beyond one year.

The risk assessment can be done very early in the pregnancy—between 11 and 14 weeks gestation. In order for a patient to receive immediate results at the time of the risk assessment, she must have blood drawn at least one week before the scheduled appointment. Unlike the prenatal genetic tests, amniocentesis or CVS, this screening method is non–invasive and completely safe. It has been studied extensively and is proven to detect about 90 percent of babies with Down syndrome or trisomy 18.

To schedule an appointment, please call 203–785–5682 or visit www.yalehighriskpregnancies.org for more information.

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Media Contact

Karen N. Peart: karen.peart@yale.edu, 203-432-1326