P06.04: Perinatal outcomes in patients with ≥ 3 mm nuchal translucencies and combined screening for trisomy 21 ⩽ 1/270

Abstract

Objectives:To know the perinatal outcome in patients with nuchal translucencies ≥ 1.8 Mom in the first trimester sonography and normal combined screening, and to determine whether in these cases, we have to propose a invasive test to parents despite a combined screening result ≤ 1/270. Methods: We have analized a total of 9280 combined screenings in our hospital over the last 4 years. For a false positive rate of 5%, 28 patients had a nuchal translucency ≥ 1.8 Mom, and despite that, the combined risk obtained was ≤ 1/270. The measurement of nuchal translucencies was between 3 and 3.9 mm. Results: Of these 28 patients, 2 were lost to follow-up. All amniocentesis performed have resulted in a normal karyotype. All fetuses had a normal echocardiogram, except a case of mild tricuspid insuficiencia. There was one case of unexplained antepartum stillbirth at 35 weeks. All infants were normal. Conclusions: Although the association of a sonoluscencia ≥ 3 mm in the ultrasound, and a combined screening of low risk is not frecuent, in our experience, this has not been accompanied by chromosomal abnormalitys. So, advise the parents performing a invasive test in this cases, is probably not correct, being perhaps more appropriate, intensify the ultrasonographic surveillance to search sonographic markers of heart disease, skeletal dysplasias or genetic anomalies. Objectives: To evaluate the pregnancy and pediatric outcome of the fetuses with septated nuchal cystic hygroma. Methods: We searched our perinatology unit records for cases with septated nuchal cystic hygroma. Data for structural abnormalities, karyotype analysis and pregnancy outcome were collected. Fetuses born with cystic hygroma were also evaluated for their pediatric outcome. P06Results: A total of 60 fetuses with nuchal septated cystic hygroma were enrolled in the study. Chromosomal abnormalities were present in 24 (40%). The most common aneuploidy was Turner syndrome (n = 11, 18.3%). The other common aneuploides were Down syndrome (n = 8, 13.3%) and Trisomy 18 (n = 3, 5%). 12 (20%) fetuses also had coexistent structural malformations. There were 38 (63.3%) elective pregnancy terminations and 10 (16.6%) spontaneous fetal intrauterine demise. 11 (18.3%) fetuses were born alive. Of these 7 (11.6%) had normal pediatric outcome, 2 (3.3%) had cardiac abnormality, 1 (1.6%) had chromosomal abnormality and 1 (1.6%) had developmental delay with motor retardation. Conclusions: Septated nuchal cystic hygroma is associated with poor perinatal outcome. Karyotype analysis and ultrasonography for anomaly screening should be performed as an initial step. Expectant management should be offered to pregnants who have euploid fetuses with normal morphology. .5% with NT of 3.5-4.4 mm, 36.4% with NT of 4.5-5.4 mm, 54.5% with NT of 5.5-6.4 mm and 95.5% with NT above 6.5 mm. 19% (45/237) had chromosomal disorders. The rate of aneuploidy was 61% in the group with skin edema and significantly higher compared to 10.2% in those without skin edema (P < 0.0001). In the group of fetuses with n...