Early sonographic evaluation of the fetal face has acquired a special importance because noticeable features in the phenotype facilitate the diagnosis of syndrome-like or chromosomally induced clinical conditions. Microcephaly, facial clefts, microphtalmia, cleft lip and palate (variable in its extent) is suggestive for a chromosomal anomaly.

Objective: To specify the most appropriate safety method of trisomy 13 prenatal screening. Patient selection: A 27-year-old female, pregnant for the second time, was referred at 16 weeks' gestation for a routine prenatal ultrasound. The woman and her husband had normal general health and were not genetically related. There was no history of abnormal children in their families.

Methods: routine ultrasonography at 16 weeks of pregnancy; selective ultrasonography for detection of fetal abnormalities; triple test; amniocentesis. Results: Ultrasound examination revealed a single fetus with an abnormal fetal facial development: mi crophtalmia, cleft lip and palate, bilateral club foot, hyperechogenic focus and polyhydramnios. Cleft lip and palate as a sonographic marker suggested the possibility of a chromosomal anomaly, such as trisomy 13 or trisomy 18. Triple test was not sensitive to the presence of trisomy 13. Chromosome analysis was recommended and fetal karyotype demonstrated 47, XY, +13. After an extensive counseling the parents decided to terminate the pregnancy with trisomy 13.

Conclusions: in this case report, lip-jaw-palatal cleft was a strong and useful screening tool for the detection of trisomy; chromosomal analysis is recommended in all cases with similar types of facial clefts prenatally diagnosed because many of the features of trisomy 13 and trisomy 18 overlap.