81.5% P = 0.24) and the specificity is ... 13+6 weeks of gestation ultrasound scan for the presence of some ... the increased fetal nucal translucency thickness, the absence of ... hydroureter, hydronephrosis, increased nuchal translucency and.
9–12 September 2012, Copenhagen, Denmark as being normal (n = 22) or abnormal (n = 26) and whether the diagnosis was made correctly. Results: For the discernment between normal and abnormal the sensitivity is higher for VE (86.2% vs. 81.5% P = 0.24) and the specificity is higher for 2D/3D US (83.6% vs. 73.6% P = 0.05). VE has a higher sensitivity (63.3% vs. 53.1% P = 0.07) when analyzing the correctness of a diagnosis, whereas specificity is comparable. Malformations of the face, skeleton and extremities are more often correctly diagnosed with VE. The reviewers preferred VE above 2D/3D US. More time was required for evaluation with VE as compared to 2D/3D. Conclusions: The detection rate for first trimester abnormalities is higher for VE and more diagnostic information became available with VE. VE has additional value in first trimester diagnosis of malformations of the face and limbs/skeleton.
P03.11 Ultrasonographic features of trisomy 13 G. Esposito1 , R. Napolitano2 , M. Di Cresce1 , V. Donadono1 , M. Volo1 , R. Saviano1 , G. Tessitore1 , A. Sirico1 , P. Martinelli1 1 Department of Obstetrics and Gynecology, Prenatal Diagnosis and High Risk Pregnancy Unit, University of Naples, Federico II, Napoli, Italy; 2 Nyffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom
Trisomy 13 syndrome is the third most common chromosomopathy, after trisomy 21 and 18; it occurs in 1/5000–12000 of live births. Its incidence is higher considering miscarriages. This aneuplody is characterized by multiple malformations, involving especially the face, the heart and limbs. This disease is associated with very high mortality within the first months of life. According to Papageorghiou et al (2005) 90% of trisomy 13 fetuses can be identified at 11 to 13+6 weeks of gestation ultrasound scan for the presence of some fetal abnormalities. The principal ultrasonographic findings are: the increased fetal nucal translucency thickness, the absence of nasal bone, the increased fetal heart rate (FHR), the reverse ductus venosus flow, the congenital heart defects, the facial dysmorphism, the holoprosencephaly, the exomphalos, and the megacystis. A 27years-old Caucasian woman was referred to our centre for first trimester ultrasound screening at 12+4 weeks of gestation of her first pregnancy. The fetus ultrasonography showed: NT thickness of 7.4 mm, cystic hygroma, generalized subcutaneous edema, facial dysmorphism, absence of nasal bone and the evidence of proboscis, echogenic bowel, cardiac malformation, FHR 174 bpm, right renal pyelectasis of 1.4 mm and dilatation of intraumbilical trait of umbilical vein; ductus venosus was normal. The estimated risk for trisomy 13/18 based on FMF 2009 software varied from basal risk of 1:1574 to 1:4 adjusted for sonographic features. Chorionic villous sampling was performed for the analysis of fetal karyotype; a trisomy 13 due to Robertsonian translocation rob(13q13q) was diagnosed. Sonographic screening at 11 to 13+6 weeks of gestation is important for the detection of early structural abnormalities. An invasive prenatal diagnosis, especially for chromosomopathies that in high percentage present markers at ultrasound examination is necessary to confirm the sonograpghyc suspect.
Poster abstracts
similar to those of Klinefelter syndrome (47,XXY), with significant differences between individual cases. The diagnosis is usually made at puberty or in adulthood. We made a diagnosis prenatally in a 37-year-old nullipara with a history of three miscarriages. She presented at 10 weeks of pregnancy for a routine checkup. The ultrasound revealed accumulation of fluid in the posterior part of the embryo, with the maximum diameter of 4.1 mm, at crown rump length (CRL) of 37 mm. On the successive examination there was normal appearance of the fetus, with NT 2.0 mm at CRL 74 mm, visible nasal bone, and normal DV and TRV flow. The decision to perform chorionic villus sampling (CVS) was made because of earlier diagnosis of fetal skin oedema. The finding of the cytogenetic analysis was a 48,XXYY karyotype. The pregnancy was continued on the parent‘s decision. Throughout the pregnancy the fetus developed normally. The ultrasound examinations, including echocardiography, were normal. The boy was delivered at term by Caesarean because of lack of progress in labour. The child‘s birth weight was 3380 g and length 54 cm, with Apgar score of 10. The baby had no abnormalities. At the age of 6 months he develops normally. Supporting information can be found in the online version of this abstract. The fetus with 48,XXYY syndrome with skin oedema, CRL 37 mm.
P03.13 Prenatal diagnosis of pericentric inversion of chromosome 9 S. Lee, H. Lee, J. Shin, T. Park, Y. Kim The Catholic University of Korea, Yeouido St. Mary’s Hospital, Seoul, Republic of Korea Objectives: Pericentric inversion of chromosome 9 is considered to be a normal variant but it has been asserted there have been considerable assertions that it could be one of the etiologies of obstetric, psychiatric or urologic congenital disorders. The aim of this study was to review the prenatal clinical features of pericentric inversion of chromosome 9. Methods: We retrospectively studied 7 cases of pericentric inversion of chromosome 9 diagnosed by prenatal genetic amniocentesis between 2001 and 2010. We reviewed clinical records and prenatal ultrasound findings of the cases. Results: Six hundred and seventy- five cases received genetic amniocentesis during the study periods. Pericentric inversion of chromosome 9 was the most common abnormality (36.8%, 7/19). Indications for genetic amniocentesis were advanced maternal age (n = 2), abnormal maternal serum marker (n = 1), abnormal ultrasound findings (n = 3) and abnormal ultrasound with past history (n = 1). Abnormal ultrasound findings were found in 57% with pericentric inversion, and these abnormalities involved hydroureter, hydronephrosis, increased nuchal translucency and oligohydramnios. Conclusions: These results suggest that a detailed prenatal ultrasound examination in heterozygous pericentric inversion of chromosome 9 could be important in predicting obstetric outcomes.
P03.12 First trimester diagnosis of a 48,XXYY syndrome M. Debska1 , P. Kretowicz1 , R. Debski1 , J. H. Dangel2 1
II Dep Ob&Gyn, The Centre of Medical Postgraduate Education, Warszawa, Poland; 2 Department of Prenatal Cardiology, Medical University of Warsaw, Warsaw, Poland 48,XXYY is a rare sex chromosome anomaly, that affects about 1 in 18 000 males. The features of 48,XXYY syndrome are generally
Ultrasound in Obstetrics & Gynecology 2012; 40 (Suppl. 1): 171–310
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