Increased Nuchal Translucency Testing Panel
Tests for the most common genetic conditions that have been associated with increased nuchal translucency when aneuploidy has been ruled out:
- 21-hydroxylase deficiency congenital adrenal hyperplasia
- Noonan syndrome
- Smith-Lemli-Optiz syndrome
- 22q11.2 deletion syndrome (also known as DiGeorge syndrome/VCFS)
- Spinal muscular atrophy
Northwestern Reproductive Genetics is pleased to introduce our Increased Nuchal Translucency Testing Panel, a prenatal testing option for fetuses with increased nuchal translucency and normal karyotype. Until now, there have been few testing options for patients with increased nuchal translucency when aneuploidy has been ruled out. Consequently, our panel was designed to provide patients with more information as quickly and as cost effectively as possible.
The ultrasound finding of increased nuchal translucency (NT) between 11 and 14 weeks gestation is most commonly associated with chromosomal abnormalities, such as trisomy 21, trisomy 18 or 13, Turner syndrome (45,X), triploidy, and other chromosomal defects. However, even in the absence of chromosomal abnormalities, increased nuchal translucency has been associated with an increased risk for adverse pregnancy outcome, including fetal abnormalities and genetic syndromes.
Research has suggested that the risk for adverse pregnancy outcome and major fetal abnormalities starts to increase when the nuchal translucency is between the 95th and 99th percentile, and then rises significantly as the measurement reaches 3.5 mm or larger (> 99th percentile). Specifically, an NT measurement between 3.5-4.4 mm increases the risk to 10%, an NT measurement between 4.5-5.4 mm increases the risk to 18%, an NT measurement of 5.5-6.4 mm increases the risk to 24%, and the risk increases significantly up to 46% when the NT measures 6.5 mm or larger.
The Increased Nuchal Translucency Testing Panel tests for the most common genetic conditions that have been associated with increased nuchal translucency and normal karyotype: 21-hydroxylase deficiency congenital adrenal hyperplasia, Noonan syndrome, Smith-Lemli-Opitz syndrome, 22q11.2 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome), and spinal muscular atrophy. The Increased Nuchal Translucency Testing Panel is designed for fetuses with a nuchal translucency measurement of 3.0 mm or larger, and is performed on DNA obtained from cultured villi or cultured amniocytes. Turnaround time is approximately 2-4 weeks. The fee for the testing panel is $425, and can be billed through the patient’s insurance directly. Institutional billing is also available.
If you would like to learn more about our Increased Nuchal Translucency Testing Panel, or if you would like to order testing for one of your patients, please contact us at 312-981-4400.
Sincerely,
Eugene Pergament, MD, PhD, FACMG Christina L. Alamillo, MS, CGC
Northwestern Reproductive Genetics, Inc. Certified Genetic Counselor
References
Bilardo CM, Timmerman E, Pajkrt E, and van Maarle M. (2010) Increased nuchal translucency in euploid fetuses- what should we be telling the parents? Prenatal Diagnosis 30:93-102.
Souka AP, Kaisen berg CS, Hyett JA, Sonek JD, and Nicolaides KH. (2005) Increased nuchal translucency with normal karyotype. American Journal of Obstetrics and Gynecology 192: 1005-21.
Souka AP, Krampl E, Bakalis S, Health V, and Nicolaides KH. (2001) Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound in Obstetrics and Gynecology 18:9-17.
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