Highlights From the Annual Clinical Genetics Meeting

Siobhan Dolan, MD

Disclosures

April 07, 2003

In This Article

Update From the FASTER Trial

The First and Second Trimester Evaluation of Risk (FASTER) trial is an ongoing study being conducted by Dr. Mary D'Alton, Chairman of the Department of Obstetrics and Gynecology at Columbia University in New York City. This multicenter study is evaluating first- and second-trimester ultrasound evaluation and serum markers as screens for fetal aneuploidy. According to the study protocol, patients undergo an ultrasound at 10-14 weeks for nuchal translucency measurement. Patients identified with cystic hygroma (increased nuchal translucency with septations) at this ultrasound are excluded from further participation in the FASTER trial and are offered immediate counseling and prenatal diagnosis.

The FASTER trial has enrolled 37,136 patients so far. Outcome data on the 108 cases of cystic hygroma identified in this study were presented at this year's meeting by Welch and associates.[3] l

Karyotypes were performed on 89 of the cases with the following results:

Among euploid fetuses, 15 major structural malformations were found:

  • 5 skeletal dysplasias

  • 5 major cardiac anomalies

  • 1 multiple pterygium

  • 4 hydrops

Pregnancy outcomes:

  • 64 pregnancies terminated

  • 44 pregnancies continued

    • 14 intrauterine demises (13%)

    • 17 hygromas resolved, resulting in pregnancy with normal outcome (16%)

In summary, the update from the FASTER trial revealed that cystic hygroma is more common than previously thought and that it is associated with adverse pregnancy outcome.

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