provide early genetic screening
Yale Maternal-Fetal Medicine, a practice of the Department of Obstetrics, Gynecology & Reproductive Sciences at the School of Medicine, has launched a new First-Trimester Risk Assessment program, the first of its kind in Connecticut.
The program provides expectant parents with immediate results at the time of an ultrasound to estimate the risk of having a baby with chromosomal abnormalities like Down syndrome or trisomy 18. This advance gives patients instant reassurance with low-risk results, or the ability to speak with a genetic counselor if major 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 followed by an ultrasound five to seven days later. The risk assessment can be done very early in the pregnancy -- between 11 and 14 weeks gestation.
During the ultrasound, a specially trained sonographer measures a characteristic called nuchal translucency at the back of the baby's neck. A sophisticated computer algorithm is used to combine the results of the blood and ultrasound tests, determining the statistical likelihood of the baby having Down syndrome or trisomy 18.
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 and profound retardation, and few live beyond one year.
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. This screening method has been studied extensively at the School of Medicine and around the world, and has been shown to detect about 90% of babies with Down syndrome or trisomy 18.
To schedule an appointment, call (203) 785-5682 or visit www.yalehighriskpregnancies.org for more information.
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