PMID: 9649096Jul 2, 1998Paper

Fetal heart rate and nuchal translucency in detecting chromosomal abnormalities other than Down syndrome

Obstetrics and Gynecology
J M MartinezA Fortuny

Abstract

To evaluate whether the combined use of fetal heart rate (FHR) and nuchal translucency measurements would be useful in the prediction of fetal chromosomal abnormalities at 10-13 weeks' gestation. In a prospective study, 1053 (553 reported previously) consecutive singleton pregnancies between 10 and 13 weeks' gestation underwent chorionic villus sampling at our institution. Fetal heart rate and fetal nuchal translucency thickness were measured immediately before the invasive procedure. Thirty-five abnormal karyotypes were diagnosed, including 17 trisomy 21, seven trisomy 18, one trisomy 13, one trisomy 9, four unbalanced translocation, two Klinefelter syndrome, one Turner syndrome, one deletion of chromosome 18, and one true mosaicism. Using 95% of normal ranges as the cutoff for both measurements, the detection rate for all chromosomal anomalies was 77.1%, with a false-positive rate (1-specificity) of 7.7%, a positive predictive value of 25.7%, and a negative predictive value of 99.2%. Fetal heart rate improved the sensitivity of nuchal thickness in trisomies 21 and 18 (from 62.5% to 75%) and was particularly useful to detect other chromosomal anomalies (from 27.2% to 81.8%). Our findings suggest that there is an added role of ...Continue Reading

References

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Apr 1, 1996·British Journal of Obstetrics and Gynaecology·J M Martinez CrespoA Fortuny
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Apr 1, 1996·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J HyettK H Nicolaides

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Citations

Feb 13, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A W LiaoK H Nicolaides
Apr 19, 2008·Obstetrical & Gynecological Survey·F M NdumbeJ C Konje
Jan 9, 2001·The Journal of Obstetrics and Gynaecology Research·Y TannirandornD Charoenvidhya
Apr 24, 2008·The Journal of Clinical Endocrinology and Metabolism·Jochem van den BergWillem A Helbing

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