How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?

UNLABELLED

Trisomy 18 (T18) remains the second most common aneuploidy. It is associated with multiple congenital anomalies and causes intrauterine fetal demise in the most severe cases.

OBJECTIVES

To examine the screening performance of ultrasound-based protocols for detecting T18, we aimed to determine the most common signs and their prevalence in fetuses with T18 to develop logistic regression model.

METHODS

This was a prospective study based on singleton pregnancies examined at gestation 11+0 to 13+6. The referrals constituted 6210 patients. Scan protocol enclosed a systematic review of the entire early fetal anatomy, including fetal cardiac evaluation and sonographic signs of aneuploidy.

RESULTS

Our study population comprised 5650 pregnancies: 5613 cases with a normal karyotype and 37 cases with T18. The mean nuchal translucency (NT) thickness in the subgroup of euploidy was 1.7 and in the subgroup of T18 it was 5.4. No statistically significant differences were found in terms of maternal age. One case of T18 (2.7%) demonstrated no markers of aneuploidy as opposed to 5111 cases of euploidy (91.1%). Extracardiac malformations were identified in 13 cases of T18 (35.1%) and in 48 cases of euploidy (0.8%). Congenital heart defects were observed in 26 cases of T18 (70.3%) and in 27 cases of euploidy (0.5%).

CONCLUSIONS

Our results showed good screening performance of ultrasound-based risk calculation models. When the first trimester pattern of T18 is considered, an increased NT, tricuspid regurgitation, single umbilical artery, omphalocele and right dominant heart should be specifically searched for.