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Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening

Year 2015, Volume: 20 Issue: 2, 76 - 80, 10.07.2015

Halis Özdemir Hakan Kalaycı Nihal Şahin Uysal Huriye Parlakgümüş Tayfun Çok Ebru Tarım Filiz Bilgin Yanık

Abstract

Objective: The aim of this study was to determine the association among ultrasound findings, biochemical markers, and Down syndrome

Method: A retrospective analysis was conducted of the files and electronic records of 70 patients who underwent invasive procedures between July 2006 and May 2013.

Results: Forty-nine of the 70 patients had ultrasound findings (70%). Thirty-five patients had nuchal translucency (NT) measurements, 17 of whom had elevated NT, above the 95th percentile. Twenty-nine patients had first-trimester biochemical markers; the mean PAPP-A was 0.5 MoM (±0.27) and the mean fB-HCG was 2.27 MoM (±1.55). Twenty-six patients had second-trimester biochemical markers; the mean AFP was 0.7 MoM (±0.27), the mean uE3 was 0.8 MoM (±0.33), and the mean HCG was 2.32 MoM (±1.33). Two or more minor anomalies were found in 45% of the patients, and 20% had at least one major anomaly.

Conclusions: In this retrospective analysis, genetic sonograms detected minor or major anomalies in 70% of the patients. Eighteen patients had normal NT values, ten patients showed increased biochemical risk in the combined test, and 12 patients had ultrasonographic anomalies in the second trimester. Multiple studies have confirmed that, in expert hands, mid-trimester ultrasound markers are highly sensitive for Down syndrome detection.

Keywords: screening, soft markers, down syndrome, genetic sonogram

Keywords

Screening soft markers Down syndrome genetic sonogram

References

  • Nyberg DA, Souter VL, El-Bastawissi A, et al. Isolated Sonographic Markers For Detection Of Fetal Down Syndrome in The Second Trimester Of Pregnancy. J Ultrasound Med 2001; 20: 1053-1063.
  • Dagklis T, Plasencia W, Maiz N, Duarte L, Nicolaides KH. Choroid Plexus Cyst, Intracardiac Echogenic Focus, Hyperechogenic Bowel And Hydronephrosis in Screening For Trisomy 21 At 11 + 0 To 13 + 6 Weeks. Ultrasound Obstet Gynecol 2008; 31: 132-135.
  • Sotiriadis A, Makrydimas G, Ioannidis JP. Diagnostic Performance Of Intracardiac Echogenic Foci For Down Syndrome: A Meta-Analysis. Obstet Gynecol 2003; 101: 1009-1016.
  • Shanks AL, Odibo AO, Gray DL. Echogenic Intracardiac Foci: Associated With Increased Risk For Fetal Trisomy 21 Or Not? J Ultrasound Med 2009; 28:1639-1643
  • Mailath-Pokorny M, Klein K, Klembermass-Schrehof K, Hachemian Bettelheim D. Are Fetuses With Isolated Echogenic Bowel At Higher Risk For An Adverse Pregnancy Outcome? Experiences From A Tertiary Referral Center. Prenat Diagn 2012; 32: 1295-1299.
  • Goetzinger KR, Cahill AG, Macones GA, Odibo AO. Echogenic Bowel On Second-Trimester Ultrasonography: Evaluating The Risk Of Adverse Pregnancy Outcome. Obstet Gynecol 2011; 117: 1341- 1348.
  • Norton ME. Follow-Up Of Sonographically Detected Soft Markers For Fetal Aneuploidy. Semin Perinatol 2013; 37: 365-369.
  • Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA. Age-Adjusted Ultrasound Risk Assessment For Fetal Down's Syndrome During The Second Trimester: Description Of The Method And Analysis Of 142 Cases. Ultrasound Obstet Gynecol 1998; 12: 8-14.
  • Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The Genetic Sonogram: A Method Of Risk Assessment For Down Syndrome in The Second Trimester. J Ultrasound Med 2002; 21: 1087-1096.
  • Mallik M, Watson AR. Antenatally Detected Urinary Tract Abnormalities: More Detection But Less Action. Pediatr Nephrol 2008; 23: 897-904.
  • Ismaili K, Hall M, Donner C, et al. Results Of Systematic Screening For Minor Degrees Of Fetal Renal Pelvis Dilatation in An Unselected Population. Am J Obstet Gynecol 2003; 188: 242-246.
  • Carbone JF, Tuuli MG, Dicke JM, Macones GA, Odibo AO. Revisiting The Risk For Aneuploidy in Fetuses With Isolated Pyelectasis. Prenat Diagn 2011; 31: 566-570.

Year 2015, Volume: 20 Issue: 2, 76 - 80, 10.07.2015

Halis Özdemir Hakan Kalaycı Nihal Şahin Uysal Huriye Parlakgümüş Tayfun Çok Ebru Tarım Filiz Bilgin Yanık

Abstract

References

  • Nyberg DA, Souter VL, El-Bastawissi A, et al. Isolated Sonographic Markers For Detection Of Fetal Down Syndrome in The Second Trimester Of Pregnancy. J Ultrasound Med 2001; 20: 1053-1063.
  • Dagklis T, Plasencia W, Maiz N, Duarte L, Nicolaides KH. Choroid Plexus Cyst, Intracardiac Echogenic Focus, Hyperechogenic Bowel And Hydronephrosis in Screening For Trisomy 21 At 11 + 0 To 13 + 6 Weeks. Ultrasound Obstet Gynecol 2008; 31: 132-135.
  • Sotiriadis A, Makrydimas G, Ioannidis JP. Diagnostic Performance Of Intracardiac Echogenic Foci For Down Syndrome: A Meta-Analysis. Obstet Gynecol 2003; 101: 1009-1016.
  • Shanks AL, Odibo AO, Gray DL. Echogenic Intracardiac Foci: Associated With Increased Risk For Fetal Trisomy 21 Or Not? J Ultrasound Med 2009; 28:1639-1643
  • Mailath-Pokorny M, Klein K, Klembermass-Schrehof K, Hachemian Bettelheim D. Are Fetuses With Isolated Echogenic Bowel At Higher Risk For An Adverse Pregnancy Outcome? Experiences From A Tertiary Referral Center. Prenat Diagn 2012; 32: 1295-1299.
  • Goetzinger KR, Cahill AG, Macones GA, Odibo AO. Echogenic Bowel On Second-Trimester Ultrasonography: Evaluating The Risk Of Adverse Pregnancy Outcome. Obstet Gynecol 2011; 117: 1341- 1348.
  • Norton ME. Follow-Up Of Sonographically Detected Soft Markers For Fetal Aneuploidy. Semin Perinatol 2013; 37: 365-369.
  • Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA. Age-Adjusted Ultrasound Risk Assessment For Fetal Down's Syndrome During The Second Trimester: Description Of The Method And Analysis Of 142 Cases. Ultrasound Obstet Gynecol 1998; 12: 8-14.
  • Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The Genetic Sonogram: A Method Of Risk Assessment For Down Syndrome in The Second Trimester. J Ultrasound Med 2002; 21: 1087-1096.
  • Mallik M, Watson AR. Antenatally Detected Urinary Tract Abnormalities: More Detection But Less Action. Pediatr Nephrol 2008; 23: 897-904.
  • Ismaili K, Hall M, Donner C, et al. Results Of Systematic Screening For Minor Degrees Of Fetal Renal Pelvis Dilatation in An Unselected Population. Am J Obstet Gynecol 2003; 188: 242-246.
  • Carbone JF, Tuuli MG, Dicke JM, Macones GA, Odibo AO. Revisiting The Risk For Aneuploidy in Fetuses With Isolated Pyelectasis. Prenat Diagn 2011; 31: 566-570.
There are 12 citations in total.

Details

Primary Language English
Journal Section Articles
Authors

Halis Özdemir

Hakan Kalaycı This is me

Nihal Şahin Uysal This is me

Huriye Parlakgümüş This is me

Tayfun Çok

Ebru Tarım This is me

Filiz Bilgin Yanık This is me

Publication Date July 10, 2015
Published in Issue Year 2015 Volume: 20 Issue: 2

Cite

APA Özdemir, H., Kalaycı, H., Şahin Uysal, N., Parlakgümüş, H., et al. (2015). Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening. EASTERN JOURNAL OF MEDICINE, 20(2), 76-80.
AMA Özdemir H, Kalaycı H, Şahin Uysal N, Parlakgümüş H, Çok T, Tarım E, Bilgin Yanık F. Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening. EASTERN JOURNAL OF MEDICINE. July 2015;20(2):76-80.
Chicago Özdemir, Halis, Hakan Kalaycı, Nihal Şahin Uysal, Huriye Parlakgümüş, Tayfun Çok, Ebru Tarım, and Filiz Bilgin Yanık. “Prenatal Findings of Patients Diagnosed With Down Syndrome: The Value of Ultrasound and Biochemical Screening”. EASTERN JOURNAL OF MEDICINE 20, no. 2 (July 2015): 76-80.
EndNote Özdemir H, Kalaycı H, Şahin Uysal N, Parlakgümüş H, Çok T, Tarım E, Bilgin Yanık F (July 1, 2015) Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening. EASTERN JOURNAL OF MEDICINE 20 2 76–80.
IEEE H. Özdemir, “Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening”, EASTERN JOURNAL OF MEDICINE, vol. 20, no. 2, pp. 76–80, 2015.
ISNAD Özdemir, Halis et al. “Prenatal Findings of Patients Diagnosed With Down Syndrome: The Value of Ultrasound and Biochemical Screening”. EASTERN JOURNAL OF MEDICINE 20/2 (July 2015), 76-80.
JAMA Özdemir H, Kalaycı H, Şahin Uysal N, Parlakgümüş H, Çok T, Tarım E, Bilgin Yanık F. Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening. EASTERN JOURNAL OF MEDICINE. 2015;20:76–80.
MLA Özdemir, Halis et al. “Prenatal Findings of Patients Diagnosed With Down Syndrome: The Value of Ultrasound and Biochemical Screening”. EASTERN JOURNAL OF MEDICINE, vol. 20, no. 2, 2015, pp. 76-80.
Vancouver Özdemir H, Kalaycı H, Şahin Uysal N, Parlakgümüş H, Çok T, Tarım E, Bilgin Yanık F. Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening. EASTERN JOURNAL OF MEDICINE. 2015;20(2):76-80.