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Anna Knafel, Marcin Wiecheć, Agnieszka Nocuń and Antoni Basta

? Ultrasound Obstet Gynecol 2002;20:9-13. 11. Bilardo C.M., Timmerman E., Pajkrt E., van Maarle M.: Increased nuchal translucency in euploid fetuses - what should we be telling the parents? Prenat Diagn 2010;30:93-102. 12. Lombardi C.M., Bellotti M., Fesslova V., Cappellini A.: Fetal echocardiography at the time of the nuchal translucency scan. Ultrasound Obstet Gynecol 2007;29:249-257. 13. Yagel S, Weissman A, Rotstein Z, Manor M, Hegesh J, Anteby E, Lipitz S, Achiron R. Congenital heart defects: natural course and in utero

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Iwona Strzelecka, Maciej Słodki, Andrzej Zieliński, Iwona Maroszyńska and Maria Respondek-Liberska

-8 13. Wigton TR, Sabbagha RE, Tamura RK, Cohen L, Minogue JP, Strasburger JF.: Sonographic diagnosis of congenital heart disease: comparison between the four-chamber view and multiple cardiac views. Obstet Gynecol. 1993, 82,219-24 14. Warrier D, Saraf R, Maheshwari S, Suresh P, Shah S.: Awareness of fetal echo in Indian scenario. Ann Pediatr Cardiol. 2012, 5, 156-9 15. Gottliebson WM, Border WL, Franklin CM, Meyer RA, Michelfelder EC.: Accuracy of fetal echocardiography: a cardiac segment-specific analysis. Ultrasound Obstet Gynecol

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Łukasz Sokołowski and Maria Respondek Liberska

echogenic focus and trisomy 21 in a population previously evaluated by first-trimester combined screening. Acta Obstet Gynecol Scand 2010;89(8):1017-1023. 8. Dagklis T, Plasencia W, Maiz N, Duarte L, Nicolaides KH. Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet Gynecol 2008;31(2):132-135. 9. Koklanaris N, Roman AS, Perle MA, Monteagudo A. Isolated echogenic intracardiac foci in patients with low-risk triple screen results

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Łukasz Sokołowski

. Respondek-Liberska M, Wilczyński J, Maroszyńska I, Sysa A, Moll J, Moll J.: Effective transplacental therapy in fetal cardiomegaly to prevent lung hypoplasia--case report. Ginekol Pol. 2007 , 78 (7), 565-9 13. Respondek-Liberska M, Sysa A, Gadzinowski J: Ocena kosztów transportu noworodków w stanie zagrożenia życia a transport In utero do ośrodka referencyjnego. Gin Pol 2004; 75; 4: 326- 331 14. Jone PN, Schowengerdt KO Jr.: Prenatal diagnosis of congenital heart disease. Pediatr Clin North Am. 2009 , 56 (3), 709-15 15

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Agnieszka Nawara-Baran and Beata Radzymińska-Chruściel

ultrasonograficznej w ciążyo przebiegu prawidłowym -2012. Rekomendacje PTG 2-4 7. Nicolaides K, P Węgrzyn. 2004. Badanie ultrasonograficzne między 11+0 a 13+6 tygodniem ciąży. Londyn: Fetal Medicine Foundation 8. 8.2013. „ISUOG Practice Guidelines: performance of first-trimester”. Ultrasound Obstet Gynecol 41: 102-113 9. Sepulveda W, T Illescas,B Adiego, P Martinez-Ten. 2013. “Prenatal Detection of Fetal Anomalies at the11-to-13-Week Scan-Part I: Brain, Face and Neck”. DSJUOG 7 (4):359-368 10. Nawara-Baran A, B

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Monika Wójtowicz-Marzec and Maria Respondek-Liberska

References 1. Chrzanowska K., Varon R., Demuth L., Nijmengen breakage syndrome (NBS). Orphanet Journal of Rare Disaease 2012,7:13 2. Chrzanowska K., Stumm M., Bekiesińska- Figatowska M., Varon R., Białecka M., Gregorek H., Michałkiewicz J., Krajewska-Walasek M., Joźwiak S., Reis A. Atypical clinical Picture of the Nijmengen breakage syndrome associated with development al abnormalities of the brain. J Med Genet 2001;38 3. Jaspers NG, van der Kraan M, Linssen PC, Macek M, Seemanova E, Kleijer WJ. Firsttrimester

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Maria Szubert and Maria Respondek-Liberska

Obstet Gynecol 2012, 39: 648-653 11. Kouame N, N’goan-Domoua AM, Nikiema Z, Konan AN, KE N’guessan, Setcheou A, Tra-Bi ZO, N’gbesso RD, Keita AK.: L’hydramnios. signe d’alerte au cours du diagnostic echographique antenatal d’anomalie morphologique foetale ? Journal de Radiologie Diagnostique et Interventionnelle 2013, 94: 449-453 12. Fayyaz H, Rafi J.: TORCH screening in polyhydramnios: an observational study. J Matern Fetal Neonatal Med 2012, 25: 1069 13. Respondek M, Kammermeier M, Ludomirsky A, Weil S, Huhta JC.: The

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Lech Dudarewicz, Urszula Wysocka and Lucjusz Jakubowski

-trimester chorionic bumps: a matched case-control study. Ultrasound Obstet Gynecol 2013;42(5):585-589. 11. Chaoui R, Benoit B, Mitkowska-Wozniak H, Heling KS, Nicolaides KH. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2009;34:249-252. 12. Bornstein E, Goncalves Rodríguez JL, Álvarez Pavón EC, Quiroga H, Or D, Divon MY. First-trimester sonographic findings associated with a Dandy-Walker malformation and inferior vermian hypoplasia. J Ultrasound Med 2013

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Maria Respondek-Liberska, Jerzy Węgrzynowski, Przemysław Oszukowski, Ewa Gulczyńska, Elżbieta Nykiel, Lucjusz Jakubowski, Mariusz Grzesiak, Ewa Czichos and Hanna Romanowicz

References 1. Moczulska H, Janiak K, Słodki M, Respondek-Liberska M. Ultrasound and echocardiographic findings obtained in the second and third trimesters of gestation in fetuses with normal karyotype and increased nuchal translucency. J Ultrason. 2013 Mar;13(52):21-30. doi: 10.15557/JoU.2013.0002. 2. Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome

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Lech Dudarewicz, Anna Krzymińska, Wanda Hawuła, Magdalena Kozłowska, Urszula Laskowska, Agnieszka Gach, Maciej Borowiec, Wojciech Młynarski, Wojciech Ałaszewski and Lucjusz Jakubowski

References 1. Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Willis AS, van den Veyver I, Eng CM. Prenat Diagn. 2012 Apr;32(4):315-20 2. Subtelomeric MLPA: is it really useful in prenatal diagnosis? Mademont-Soler I, Morales C, Bruguera J, Madrigal I, Clusellas N, Margarit E, Sánchez A, Soler A: Prenat Diagn. 2010 Dec;30(12-13):1165-9. doi: 10.1002/pd.2635 3. Prenatal study of common submicroscopic „genomic disorders“ using MLPA with subtelomeric/microdeletion syndrome probe