Re: Down Syndrome: New screening methods questioned

From: Terry J. DuBose (tjdubose@uams.edu)
Thu Aug 15 10:56:39 2002


Dr. Fougner, thanks for this reference... I had not seen it.

This is more inline with what we found with the EHR before 9.2 weeks. We had a positive predictive value of about 70%-85% for first trimester failure if the ages estimated by the CRL and EHR were more than 1 week different (EHR age < CRL age by > 6 days).

http://www.obgyn.net/us/cotm/0001/ehr2000B.htm http://www.obgyn.net/english/pubs/features/dubose/ehr-age.htm

I am convinced that the early heart rate is predictive of subsequent findings about cardiac development. But there are many, many questions we have not answered yet.

Peace, Terry J. DuBose, M.S., RDMS Assistant Professor & Director, Diagnostic Medical Sonography Program University of Arkansas for Medical Sciences, CHRP 4301 West Markham St. Mail Slot #563 Little Rock, Arkansas, 72205 USA 501-686-6510 DuBoseTerryJ@UAMS.edu http://www.io.com/~dubose/ http://www.uams.edu/CHRP/dmshome.htm http://www.obgyn.net/us/panel/panel.htm

Terry -

i think you'll find this interesting -

Obstet Gynecol 1998 Jul;92(1):68-71

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

Martinez JM, Echevarria M, Borrell A, Puerto B, Ojuel J, Fortuny A.

Prenatal Diagnosis Unit, Department of Obstetrics and Gynaecology, Hospital Clinic, Barcelona, Spain.

OBJECTIVE: 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. METHODS: 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. RESULTS: 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%). CONCLUSION: Our findings suggest that there is an added role of FHR in ultrasound screening of chromosomal abnormalities, specifically for those other than trisomy 21 and 18. The value of a single measurement of fetal heart rate for screening purposes needs to be confirmed by further investigation in a low-risk population.

Publication Types: Clinical Trial

PMID: 9649096 [PubMed - indexed for MEDLINE]

art




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