FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 337:1654-1658 December 4, 1997 Number 23 Next

	Full Text PDF Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

Background Screening for trisomy 21 (Down's syndrome) by measuring maternal serum alpha-fetoprotein, chorionic gonadotropin, and estriol concentrations and then performing chorionic-villus sampling or amniocentesis identifies approximately 60 percent of fetuses with this disorder. We used ultrasonography to detect increased nuchal translucency and cystic hygroma, which are characteristic features of fetuses with chromosomal defects.

Methods We performed transvaginal ultrasonography in 10,010 unselected adolescents and women less than 40 years of age with live singleton fetuses at 10 to 15.9 weeks of gestation. Increased fetal nuchal translucency was defined as an area of translucency at least 3 mm in width, and cystic hygromas were defined as septated, fluid-filled sacs in the nuchal region. Subjects whose fetuses had these findings were offered fetal karyotyping. Information on pregnancies, deliveries, and neonates was subsequently obtained from hospital records and national birth and malformation registries.

Results Nuchal translucency or cystic hygroma was seen in 76 fetuses (0.8 percent), of which 18 (24 percent) had an abnormal karyotype. The sensitivity for trisomies 21, 18, and 13 combined was 62 percent (13 of 21 fetuses), and the sensitivity for trisomy 21 alone was 54 percent (7 of 13 fetuses).

Conclusions The use of transvaginal ultrasonography to detect increased nuchal translucency and cystic hygroma is a sensitive test for fetal aneuploidy. It can be done earlier in pregnancy than serum screening, and it decreases the subsequent need for chorionic-villus sampling or amniocentesis.

Source Information

From the Department of Obstetrics and Gynecology, Jorvi Hospital, Espoo (P.T.), and the Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki (P.T., V.H., R.S., P.Y.) — both in Finland.

Address reprint requests to Dr. Taipale at the Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Haartmaninkatu 2, SF-00290 Helsinki, Finland.

Full Text of this Article

Related Letters:

Increased Nuchal Translucency and Fetal Chromosomal Defects
Malone F. D., Ralston S. J., D'Alton M. E., Mol B. W., Pajkrt E., Bilardo C. M., Taipale P., Hiilesmaa V., Salonen R.
Extract | Full Text  
N Engl J Med 1998; 338:1228-1230, Apr 23, 1998. Correspondence

This article has been cited by other articles:

• Papp, C., Beke, A., Ban, Z., Szigeti, Z., Toth-Pal, E., Papp, Z. (2006). Prenatal Diagnosis of Trisomy 13: Analysis of 28 Cases. J Ultrasound Med 25: 429-435 [Abstract] [Full Text]  
• Rozenberg, P., Malagrida, L., Cuckle, H., Durand-Zaleski, I., Nisand, I., Audibert, F., Benattar, C., Tribalat, S., Cartron, M., Lemarie, P., Stoessel, J., Capolagui, P., Janse-Marec, J., Barbier, D., Allouch, C., Perdu, M., Roberto, A., Lahna, Z., Giudicelli, Y., Ville, Y. (2002). Down's syndrome screening with nuchal translucency at 12+0-14+0 weeks and maternal serum markers at 14+1-17+0 weeks: a prospective study. Hum Reprod 17: 1093-1098 [Abstract] [Full Text]  
• Maymon, R., Jauniaux, E., Cohen, O., Dreazen, E., Weinraub, Z., Herman, A. (2000). Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency. Hum Reprod 15: 2023-2027 [Abstract] [Full Text]  
• Geipel, A., Gembruch, U., Ludwig, M., Germer, U., Schwinger, E., Dormeier, A., Diedrich, K. (1999). Genetic sonography as the preferred option of prenatal diagnosis in patients with pregnancies following intracytoplasmic sperm injection. Hum Reprod 14: 2629-2634 [Abstract] [Full Text]  
• Maymon, R., Herman, A., Dreazen, E., Tovbin, Y., Bukovsky, I., Weinraub, Z. (1999). Case Report: Can nuchal cord cause transient increased nuchal translucency thickness?. Hum Reprod 14: 556-559 [Abstract] [Full Text]  
• Mol, B. W J (1999). Down's syndrome, cardiac anomalies, and nuchal translucency. BMJ 318: 70-71 [Full Text]  
• Hyett, J., Perdu, M., Sharland, G., Snijders, R., Nicolaides, K. H (1999). Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 318: 81-85 [Abstract] [Full Text]  
• Malone, F. D., Ralston, S. J., D'Alton, M. E., Mol, B. W., Pajkrt, E., Bilardo, C. M., Taipale, P., Hiilesmaa, V., Salonen, R. (1998). Increased Nuchal Translucency and Fetal Chromosomal Defects. NEJM 338: 1228-1230 [Full Text]  
• Seeds, J. W. (1997). Ultrasonographic Screening for Fetal Aneuploidy. NEJM 337: 1689-1690 [Full Text]