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Measurement Of Nuchal Translucency – Test For Prenatal Screening

  May, 3 2005 7:07
your information resource in human molecular genetics
Measurement of nuchal translucency at 11-14 weeks is becoming a much sought after test for prenatal screening. This test which is being offered at most major prenatal testing centers is an effective method for screening for Down syndrome, Trisomy 18 and other chromosomal abnormalities, as well as for cardiac defects.

With a detection rate of 80% and a false positive rate of approximately 5% this early non-invasive screen is useful for women who then move on to more invasive diagnostic testing and Chorionic Villus Sampling. This screen test also serves to reassure early in the pregnancy women at high risk for having a baby with a chromosomal abnormality/cardiac defects either because of advance maternal age or family history.

Three papers explores one facet of this test which is outcome of pregnancies in fetuses with increased nuchal translucency and normal karyotype and the risk for cardiac defects and other abnormalities in such pregnancies.

[1] Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. A. P. Souka et al. Ultrasound Obstet. Gynecol. 2001; 18:9-17.

[2] Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. T. Ghi et al. Ultrasound Obstet. Gynecol. 2001; 18:610-614.

[3] Increased nuchal translucency in fetuses with a normal karyotype. Jon A. Hyett. Invited Commentary: Current Issues in Obstetrics and Genetics Prenatal Diagnosis. Prenat Diagn. 2002; 864-868.

Posted by: Tressie Dalaya

Message posted by: Trevor M. D'Souza

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