Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the
nasal bones (NB).
Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been
prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound
screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia
or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only.
Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester
in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other
39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester
of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker –
isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB
aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses
with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had
isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight
indexes, physical and psychomotor development observed in age from 0 to 10.
Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.
