of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes. Ultrasound Obstet Gynecol. 2013 Feb;41(2):172-6. doi: 10.1002/uog.11194.
13. learo E, Oberto M, Oggè G, Botta G, Pace C, Gaglioti P, Todros T. Thymic volume in healthy, small for gestational age and growth restricted fetuses. Prenat Diagn. 2012 Jul;32(7):662-7. doi: 10.1002/ pd.3883. Epub 2012 Apr 30.
14. Cromi A, Ghezzi F, Raffaelli R, Bergamini V, Siesto G, Bolis P. Ultrasonographic
A. Dhanya Mackeen, John W. Ross, Alexandria Betz, Wen Feng, Jay J. Bringman and Michael J. Paglia
in singleton pregnancies. Croat Med J. 2006;47(5):701-708.
10. Dolkart LA, Reimers FT, Kuonen CA. Discordant umbilical arteries: Ultrasonographic and doppler analysis. Obstet Gynecol. 1992;79(1):59-63.
11. Hadlock FP, Harrist RB, Sharman RS, Deter RL, Park SK. Estimation of fetal weight with the use of head, body, and femur measurements--a prospective study. Am J Obstet Gynecol. 1985;151(3):333-337. doi: 0002-9378(85)90298-4 [pii].
12. American Institute of Ultrasound in Medicine. <br />AIUM practice parameter for
Anna Knafel, Marcin Wiecheć, Agnieszka Nocuń and Antoni Basta
D-type transposition of the great arteries (d-TGA) is a critical heart defect lesion, that should be diagnosed prenatally, as early postnatal management greatly relies on this information. Recently, in Poland more heart defects of this type are diagnosed prenatally. However, there is a lack of data regarding the diagnosis of d-TGA at the time of nuchal translucency measurement at 11-13+6 weeks of pregnancy. We present a case of d-TGA that was detected and properly diagnosed during the first trimester scan. The diagnostic plane that enabled the diagnosis was the three vessel-trachea view (3VT) presenting one, wide vessel instead of a typical V-sign.
Lech Dudarewicz, Anna Krzymińska, Wanda Hawuła, Magdalena Kozłowska, Urszula Laskowska, Agnieszka Gach, Maciej Borowiec, Wojciech Młynarski, Wojciech Ałaszewski and Lucjusz Jakubowski
Objective of the study:
At the moment of study design, there was no data available on prevalence of subtelomeric imbalanced rearrangements in fetuses with abnormal phenotype assessed by ultrasound and with normal classical karyotype, consequently this study was initiated to fill in this gap.
Material & Method:
Amniotic fluid samples or chorionic villi from:
137 fetuses with abnormalities in two or more organ systems
96 fetuses with nuchal translucency above 3.5 mm (99th centile),
85 apparently healthy fetuses (control group) were studied by subtelomeric MLPA, using two kits (P036 and P070) in all cases. Confirmation of a rearrangement was obtained by means of fluorescence in situ hybridization (FISH) studies.
In the group of fetuses with abnormalities in two or more organ systems, one subtelomeric deletion (de novo deletion (del1p36).) was detected, yielding the detection rate of cryptic subtelomeric imbalances in these pregnancies of 0.84%. In the control group and in the group of fetuses with NT measurement above 3.5 mm, no abnormalities were found.
The low detection rate of subtelomeric rearrangements in the studied group, together with the low robustness of the method (only one sequence per telomere is studied in one experiment) and necessity to confirm the pathological findings with another method, imply low usefulness of the method in the prenatal setting. In the current era, there are genome-wide methods, like CGH-arrays or SNP-array, which are better-suited for prenatal diagnosis, because of higher yields and lack of necessity of confirmation of the pathological results.
Michał Krekora, Mariusz Grzesiak, Maciej Słodki, Ewa Gulczyńska, Iwona Maroszyńska, Maria Respondek-Liberska, Frank A. Chervenak and Laurence B. McCullough
INTRODUCTION: The aim of this study was to present our current practice of counseling patients and families with the most severe congenital malformations in the 3rd trimester of pregnancy and to develop practical guidelines for our team and involved healthcare/ socialcare professionals. MATERIAL & METHODS: It was a retrospective evaluation of a series of fetal cases in 2017 from single tertiary center. Maternal obstetrical medical history, time of prenatal detection of the anomaly (1st, 2nd or 3rd trimester), time between last fetal echocardiography and delivery, type of delivery, neonatal birth weight and time of neonatal demise. The total study group was subdived into early demise (during the 1st day after delivery) or late demise > 1st day after delivery. RESULTS: Mean maternal age was 30,4 +/- 5,6 years, and varied between 26 and 38 years. No chronic maternal diseases were found in medical history and no congenital malformations were present in previous children. All women had 1st trimester ultrasound, in 9 cases, it was reported as normal (with NT measurement < 2 mm), in 2 cases extracardiac abnormalities were detected: diaphragmatic hernia and omphalocele ( in both fetal karyotype 46,XY). In nine cases, the abnormalities were detected in midgestation and with maternal wish to continue the pregnancies. There were 8 neonatal deaths within 60 minutes after delivery, including one intrapartum death and 3 “late” neonatal deaths in the intensive care unit (on 12th, 21st and 22nd day). We stress upon the prenatal team approach and counseling of future parents, in order to prepare them for poor neonatal outcome. CONCLUSIONS: 1. In the most severe cases when fetal or neonatal demise was suspected, the two different opinions of specialists might not be enough and a third opinion should be recommended before final decision. 2. A Fetal Team of specialists is necessary in cases of expected fetal/neonatal demise in order to prepare a written report of recommended perinatal management for all sides involved in this difficult problem.
. 2012; 2(1), 24-28.
7. Respondek-Liberska M, Szymkiewicz-Dangel J, Tobota Z, Słodki M. The goal and preliminary conclusions from the Polish National Registry for Fetal Cardiac Pathology (www.orpkp.pl). Pol. Przegl. Kardiol. 2008, 10, 2, 129-135
8. Slodki M., Rychik J., Moszura T., Janiak K., Respondek-Liberska M., Measurement of the great vessels in the mediastinum could help distinguish true from false-positive coarctation of the aorta in the third trimester, J Ultrasound Med. 2009, 28, 1313-1317
9. Slodki M, Moszura T
of adding the spin technique. J Ultrasound Med 2008; 27:496-498
30. Rizzo G, Capponi A, Arduini D. Use of 4-Dimensional sonography in the measurement of fetal great vessels in mediastinum to distinguish true- from false-positive coarctation of the aorta. J Ultrasound Med 2010; 29:323-326
31. Volpe P, Campobasso G, Stanziano A, et al. Novel application of 4D sonography with B-flow imaging and spatio-temporal image correlation (STIC) in the assessment of the anatomy of pulmonary arteries in fetuses with pulmonary atresia and
Katarzyna Więckowska, Katarzyna Zych-Krekora, Maciej Słodki and Maria Respondek-Liberska
. Measurement of the great vessels in the mediastinum could help distinguish true from false-positive coarctation of the aorta in the third trimester. J Ultrasound Med. 2009; 28:1313-1317.
9. Gomez-Montes E, Herraiz I, Mendoza A, Escribano D, Galindo A. Prediction of coarctation of the aorta in the second half of pregnancy. Ultrasound Obstet Gynecol 2013; 41:298-305.
10. Sharland GK, Chan K, Allan LD. Coarctation of the aorta: Difficulties in prenatal diagnosis. BR Heart J 1994; 71:70.
11. Hornberger LK, Sahn DJ, Kleinman CS, et