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Three dimensional ultrasound: abnormalities of the fetal face in surface and volume rendering mode. Andreas Lee, et al.
British Journal of OB/GYN,102:302-306, 1995
The new technique of three dimensional ultrasound is described in the evaluation of complex malformations of the face in the fetus. Many fetal anomalies can be diagnosed by routine level II ultrasound but difficulties are encountered if there is insufficient amniotic fluid or if the fetus is in an awkward position for viewing a particular area.
A 29 year old woman with a history of a child with unilateral anophthalmia was referred at 28 weeks gestation for ultrasound. On routine ultrasound of the face, the orbital cavities appeared normal but the eyeball on the right and the lens could not be seen because of the position of the fetal face. The rest of the face was not visible. On 3-D ultrasound a normal appearing face was noted with possible unilateral anophthalmia. At birth a healthy infant with normal appearing face and unilateral anophthalmia was noted.
The authors concluded that 3-D ultrasound is an exciting new tool in the ultrasound evaluation of the fetus especially the fetal face. It gives clearer information about the extent of the malformation which is useful for the family and provides guidance for management to the physicians.
First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases. Moshe Bronshtein, et al.
OB/GYN, 77:443, 1991
Transvaginal ultrasound is described in this article as useful for the detection of many structural fetal anomalies. In 8 case reports, eye anomalies are described that were detected among 1600 fetal screenings by transvaginal U/S between 12-18 weeks gestation. In previous reports fetal ocular malformations were detected only after 22 weeks gestation.
In all the fetuses screened, the eyes were detected from 12 weeks gestation onward. The fetal lens was identified in all the fetuses by 14 weeks. Fetal eye lids were noted in most cases by the beginning of the second trimester.
2 cases of microphthalmia and early cataract were detected by transvaginal ultrasound screening. In two cases with previously affected fetuses with bilateral anophthalmia, they were able to diagnose normal eye and lens development as early as 12-13 weeks gestation. However they also missed 2 cases of anophthalmia, one at 12 weeks gestation and another was found to have microphthalmia at repeat U/S at 31 weeks gestation after a normal U/S early in pregnancy.