Ultrasonographic measurement of fetal nuchal skin to screen for chromosomal abnormalities


      OBJECTIVE: The purpose of this prospective investigation was to determine the utility of ultrasonographic measurement of the fetal nuchal skin in screening for chromosomal abnormalities. STUDY DESIGN: In 1510 patients undergoing genetic amniocentesis at 14 to 21 weeks' gestation, the fetal nuchal skin fold was measured. A measurement of ò6 mm was considered abnormal. RESULTS: In fetuses with normal karyotype the nuchal skin increased with advancing gestational age (r = 0.45, p < 0.001). Only 27 fetuses with normal karyotype (2.0%) had an abnormal nuchal skin thickness. Fifty-seven fetuses had abnormal karyotype. Eight of 14 fetuses with Down syndrome had abnormal ultrasonographic findings; four had increased nuchal skin as the only ultrasonographic abnormality. Increased nuchal skin alone, in the absence of other ultrasonographic dysmorphologic features, did not help to identify fetuses with other abnormal karyotypes. CONCLUSION: Nuchal skin thickness is a useful noninvasive measurement to screen for Down syndrome but does not help to identify fetuses with other chromosomal abnormalities. (AM J OBSTET GYNECOL 1994;170:583-6.)


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic and Personal
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to American Journal of Obstetrics & Gynecology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Benacerraf BR
        • Neuberg D
        • Bromley B
        • Frigoletto FD.
        Sonographic scoring index for prenatal detection of chromosomal abnormalities.
        J Ultrasound Med. 1992; 11: 449-458
        • Benacerraf BR
        • Barss VA
        • Laboda LA.
        A sonographic sign for the detection in the second trimester of the fetus with Down syndrome.
        AM J OBSTET GYNECOL. 1985; 151: 1078-1079
        • Crane JP
        • Gray DL.
        Sonographically measured nuchal skinfold thickness as a screening tool for Down syndrome: results of a prospective clinical trial.
        Obstet Gynecol. 1991; 77: 533-536
        • Toi A
        • Simpson GF
        • Filly RA.
        Ultrasonically evident nuchal skin thickening: is it specific for Down syndrome?.
        AM J OBSTET GYNECOL. 1987; 156: 150-153
        • Hill LM
        • Guzick D
        • Belfar HL
        • Hixon J
        • Rivello D
        • Rusnak J.
        The current role of sonography in the detection of Down syndrome.
        Obstet Gynecol. 1989; 74: 620-623
        • Perrella R
        • Duerinckx AJ
        • Grant EG
        • et al.
        Second-trimester sonographic diagnosis of Down syndrome: role of femur-length shortening and nuchal fold thickening.
        AJR Am J Roentgenol. 1988; 151: 981-985
        • Watson WJ
        • Katz VL
        • Chescheir NC
        • Miller RC
        • Menard MK
        • Hansen WF.
        The cisterna magna in second-trimester fetuses with abnormal karyotype.
        Obstet Gynecol. 1992; 79: 723-725
        • Corteville JE
        • Dicke JM
        • Crane JP.
        Fetal pyelectasis and Down syndrome: is genetic amniocentesis warranted?.
        Obstet Gynecol. 1992; 79: 770-772
        • Benacerraf BR
        • Laboda LA
        • Frigoletto FD.
        Thickened nuchal fold in fetuses not at risk for aneuploidy.
        Radiology. 1992; 184: 239-242