age (6.5%). In the recent eight years, 46 cases were reported in 12 articles, and 78.3% of these cases were diagnosed by chromosomal microarray (CMA) with or without karyotyping. The reported size of 5p deletion ranged from 0.7 to 39.0 Mb. The proportion of deletion <5, 5-10 and >10Mb was 15%, 15%, and 70%, respectively. The main indications for IPD were ultrasound abnormality (60.9%), an abnormal result on non-invasive prenatal testing (NIPT) (21.7%), and parental translocation carrier (8.7%). Of all 77 cases, 51.9% had ultrasound abnormality, 39.0% had ultrasound brain abnormalities, and 19.5% had abnormal cerebellum. In recent years, first trimester ultrasound abnormalities were reported in 5 cases (10.9%). Conclusions: In recent years, most of the reported cases of 5psyndrome were diagnosed by CMA. The most commonest indication for IPD was ultrasound abnormality, followed by an abnormal result on NIPT and parental translocation carrier. VP06.07 Prenatal ultrasonography of 5p deletion syndrome: literature review
Objectives: This study aimed to evaluate the reasons to perform an invasive test in pregnancies with prenatal diagnosis of Down's syndrome. Methods: Retrospective descriptive study including pregnancies with prenatal diagnosis of Down's syndrome followed at a tertiary centre in Lisbon (Portugal) from 2016 to 2018. Clinical and demographic data analysed included: age; ethnicity; body mass index; parity; aneuploidy screening and diagnostic tests performed and its results; gestational age at diagnosis; gestational age at termination of pregnancy. Results: 57 cases were included. The mean age was 37 years (minimum 22; maximum 45). Almost all women (87.7%) were caucasian. 22 (38.6%) women were nulliparous and 27 (47.4%) were multiparous. 43 women (75.4%) visited our centre for the first time in the first trimester and only two (3.5%) were referred after 20 weeks. 37 (65%) women underwent combined test screening. A chorionic villus sampling was performed in 53 (93%) cases. The main indication for this test was a high risk for Down's syndrome in the first trimester aneuploidy screening: in 36 (63.2%) cases according to the Fetal Medicine Foundation combined screening calculation algorithm and in 20 (35.1%) cases according to the first trimester ultrasound screening. All women decided to terminate the pregnancy after prenatal counselling. The mean gestational age at termination of pregnancy was 15 weeks (minimum 13; maximum 24). Conclusions: Prenatal diagnosis of Down's syndrome was mainly performed in the first trimester of pregnancy after chorionic villus sampling and was suspected because of a high risk first trimester aneuploidy screening result.
EP04.17The role of ultrasound examination in the detection of the most common trisomies
Oral communication abstractsin both groups (25% vs 26%). Compared with controls, women with unicornuate uteri were more likely to be diagnosed with genitourinary anomalies (17% vs 0.3%, p=0.0001). Endometriosis (17% vs 7%, p = 0.01) and adenomyosis (26% vs 19%, p = 0.032) were more frequent in the unicornuate group, while fibroids were not (16% vs 15%, p = 0.9). 15% in the study group had an ectopic pregnancy (7 in the functional non-communicating horn), versus 8% in the control group (p=0.001). Conclusions: 30% of women with a unicornuate uterus have a functional horn which is associated with a higher risk of endometriosis and rudimental horn ectopic pregnancy. Women with a unicornuate uterus are more likely to have urogenital tract anomalies, endometriosis and adenomyosis, but not fibroids.
Objectives: The objective of this study was to compare the maternal and neonatal outcomes in triplet pregnancies according to the mode of delivery. Methods: Medical records were reviewed in triplet pregnancies who were delivered in the Seoul National University Hospital between Jan. 1997 and Jan. 2015. This case-control study included 18 triplet pregnancies with vaginal delivery (VD group) and 36 control triplet pregnancies with Caesarean delivery (CD group), matched for gestational age at delivery (1:2). In maternal outcomes, pre-eclampsia, gestational diabetes mellitus, preterm labour, preterm premature rupture of membrane, antenatal steroids and post-delivery transfusion were included. Neonatal outcomes included Apgar score, neonatal intensive care unit (NICU) admission, NICU stay duration, respiratory distress syndrome, bronchopulmonary dysplasia, intraventricular hemorrhage and periventricular leukomalacia and necrotising enterocolitis. Results: Median gestational age at delivery was similar between the two groups (33.3 weeks in VD group vs. 33.2 weeks in CD group). CD group had a higher rate of nulliparous pregnant women than VD group (91.7% vs. 55.6%, p < 0.01). No significant differences in other demographic findings were found between the two groups. Maternal and neonatal outcomes were not different according to the mode of delivery, while the rate of low 5 min Apgar score (<7) was higher in CD group than VD group (18.5% vs. 1.9%, p < 0.01). Conclusions: These findings here in suggest that neonatal outcomes in vaginal delivery were comparable to those in Caesarean delivery. However, the retrospective case-control study design and the small sample size in this study may limit the generalisation of vaginal delivery as a possible option in triplet pregnancies.
Prognosis is good when the facial dismorphysm is isolated and poor in association with chondrodysplasia punctata, with a high risk of mortality by 2 years of age.
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