Genetic Counseling

Maria Jędrzejowska, MD, PhD

Specialist in Clinical Genetics, Neurologist

She deals with the diagnosis of genetically determined diseases in children and adults, particularly neuromuscular diseases and other neurogenetic disorders, floppy infant syndrome, congenital connective tissue disorders, psychomotor development delay, and preconception genetic testing. 
She graduated from the Medical Academy in Warsaw (1995). She is a specialist in neurology (2001) and clinical genetics (2009).  In 2003, she defended her doctoral thesis in neurogenetics, and in 2019 she obtained the degree of Doctor of Medical Sciences. For many years associated with the M. Mossakowski Institute of Experimental and Clinical Medicine of the Polish Academy of Sciences. Leader and investigator of several research projects.  She has completed numerous courses and internships in neurology, clinical genetics and molecular techniques. She gained clinical experience at the Genetic Counselling Clinic of the Institute of Mother and Child (2002-2009, 2024-present), the Genetic Counselling Clinic of the Department of Medical Genetics at the Children's Health Centre (2009-present), the Genetic Counselling Clinic of the Institute-Centre for Oncology in Warsaw (2010-2012), and the Neurology Clinic of the Medical University of Warsaw (2021-2024). Since 2011, she has been working as a clinical geneticist at the Genomed Genetic Counselling Clinic. 
She is involved in the organisation of a screening programme for SMA in newborns. She is a member of the Polish Society of Human Genetics, the Polish Neurological Society, the World Muscle Society and the European Society of Human Genetics. 

Publications:


Collaboration

Jose Carlos Ferriera, MD

Specialist in clinical genetics

Specialist in Obstetrics and Gynecology

Dr. Ferreira graduated in Medicine from Faculdade de Medicina de Lisboa, Portugal in 1986. He got board certified in Obstetrics and Gynecology from Ordem dos Médicos, Portugal, in 1995 and in Clinical Genetics from the the American College of Medical Genetics in 1999. In 2011 he received his PhD from the Institute of Medical Sciences, University of Toronto. Author and co-author of scientific publications. He is involved in research work in the fields of genetics and obstetrics (especially in Prenatal Screening and Diagnosis) and he has contributed to successful applications to scientific grants. He is a member of several professional and scientific societies (Portuguese professional "Ordem dos Médicos", Prenatal Diagnosis Portuguese Association, the American Society of Human Genetics, the European Society of Human Genetics, Associate Member International of the American College of Obstetricians and Gynecologists, Portuguese Society of Human Genetics).

Publications:










dr n. med. Anna Kucińska-Chahwan

specjalista genetyki klinicznej

specjalista ginekologii i położnictwa

Absolwentka Akademii Medycznej w Warszawie. Specjalista w zakresie ginekologii i położnictwa oraz genetyki klinicznej.
Główny obszar zainteresowań to niepowodzenia dotyczące posiadania potomstwa: genetyczne przyczyny niepłodności, poronienia, wady wrodzone oraz patologie ciąży (nadciśnienie tętnicze, hypotrofia, konflikt serologiczny i inne). Od początku pracy zawodowej związana z Kliniką Położnictwa i Ginekologii Szpitala im. prof. W. Orłowskiego CMKP w Warszawie, gdzie obecnie pracuje w Poradni Patologii Ciąży i Wad Wrodzonych Płodu. Zajmuje się diagnostyką ultrasonograficzną i genetyczną wad płodu, ciąż o nieprawidłowym przebiegu i inwazyjną diagnostyką prenatalną. Jest wykładowcą na szkoleniach dla lekarzy, organizowanych przez CMKP. Doświadczenie w pracy genetyka klinicznego nabyła w Poradni Genetycznej Instytutu Psychiatrii i Neurologii w Warszawie. Jest autorem i współautorem kilkunastu publikacji naukowych w indeksowanych czasopismach naukowych polskich i zagranicznych

Najważniejsze publikacje naukowe:

Publications:

  1. Grati, F.R., Bajaj, K., Malvestiti, F., Agrati, C., Grimi, B., Malvestiti, B., Pompilii, E., Maggi, F., Gross, S., Simoni, G., Ferreira, Jose Carlos P. The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure. Prenat Diagn [Internet]. 2015 Oct;35(10):994–8.
  2. Grati FR, Molina Gomes D, Ferreira JCPB, Dupont C, Alesi V, Gouas L, et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn [Internet]. 2015 Aug;35(8):801–9.
  3. Grati FR, Malvestiti F, Ferreira JCPB, Bajaj K, Gaetani E, Agrati C, et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med [Internet]. 2014 Aug 13 [cited 2014 Jul 24];16(8):620–4.
  4. Ferreira JCP, Schreiber-Agus N, Carter SM, Klugman S, Gregg AR, Gross SJ. Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze. Am J Obstet Gynecol [Internet]. 2014 Sep 5 [cited 2014 Jun 27];211(3):197–204.
  5. Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, Jose C. Ferreira, et al. Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance. Hum Mol Genet [Internet]. 2014 Jan 8 [cited 2014 Feb 3].
  6. Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol [Internet]. 2011 Nov [cited 2012 May 2];22(11):2047–56.
  7. Ferreira JC, Choufani S, Grafodatskaya D, Butcher DT, Zhao C, Chitayat D, et al. WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics [Internet]. 2011 Apr [cited 2012 May 2];6(4):440–9.
  8. Grigoriu A, Ferreira JC, Choufani S, Baczyk D, Kingdom J, Weksberg R. Cell specific patterns of methylation in the human placenta. Epigenetics [Internet]. 2011 Mar [cited 2012 May 2];6(3):368–79.
  9. Sanaa Choufani, Jonathan S. Shapiro, Martha Susiarjo, Darci T. Butcher, Daria Grafodatskaya, Youliang Lou, Jose C. Ferreira, Dalila Pinto, Stephen W. Scherer, Lisa G. Shaffer, Philippe Coullin, Isabella Caniggia, Joseph Beyene, Rima Slim, Marisa S. Bartolomei and Rosanna Weksberg. A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res [Internet]. 2011 Mar [cited 2012 May 2];21(3):465–76.
  10. Rajendram R, Ferreira JC, Grafodatskaya D, Choufani S, Chiang T, Pu S, et al. Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms. Epigenetics [Internet]. 2011 Apr [cited 2012 May 2];6(4):410–5.
  11. Ferreira JC, Coufani S, Kingdom J, Weksberg R. Epigenetic Programming and Fetal Growth Restrictions. Fetal Matern Med Rev [Internet]. 2010 Jun3 [cited 2012 Jul 13];21(03):204–24.
Publications:
  1. Jędrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I Unaffected patients with a homozygous absence of  the SMN1 gene. Europ J Hum Genet  2008; 16(8):930-934
  2. Jędrzejowska M, Ryniewicz B, Kabzińska D, Drac H, Hausmanowa-Petrusewicz I, Kochański A. A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA3). Neuromusc Disord  2008; 18(4):339-41
  3. Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B. Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Hum Genet 2008, 123(2):141-53
  4. Jędrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera-Pruszczyk A, Sielska D, Jurek M, Hausmanowa-Petrusewicz I. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Acta Biochim Pol. 2009; 56(1):103-8
  5. Jędrzejowska M, Milewski M, Zimowski J, Zagożdżon P, Kostera-Pruszczyk A, Borkowska J, Sielska D, Jurek M, Hausmanowa-Petrusewicz I. Incidence of spinal muscular atrophy in Poland- more frequent than predicted? Neuroepidemiology 2010; 34:152-157
  6. Kuźma-Kozakiewicz M, Jędrzejowska M, Kaźmierczak B. SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14(5-6):457-62
  7. Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells. Eur J Paediatr Neurol. 2014; 18(2):183-92
  8. Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.  Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol. 2014;261(1):152-63
  9. Jędrzejowska M, Gos M, Zimowski JG, Kostera-Pruszczyk A, Ryniewicz B, Hausmanowa-Petrusewicz I.Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients. Neuromuscul Disord. 2014;24(7):617-23
  10. Jędrzejowska M, Jakubowska-Pietkiewicz E, Kostera-Pruszczyk A. X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene. Neuromuscul Disord. 2015;25(8):661-6
Publications:

  1. Targeted prenatal diagnosis of Pallister-Killian syndrome. Kucińska-Chahwan A, Bijok J, Dąbkowska S, Jóźwiak A, Ilnicka A, Nowakowska B, Jakiel G, Roszkowski T. Prenat Diagn. 2017 Feb 23. doi: 10.1002/pd.5030.
  2. Clinical significance of the prenatal double bubble sign - single institution experience. Kucińska-Chahwan A, Posiewka A, Bijok J, Jakiel G, Roszkowski T. Prenat Diagn. 2015 Nov;35(11):1093-6. doi: 10.1002/pd.4652.
  3. Maternal blood intrauterine transfusions in the therapy of red-cell alloimmunization performed in three difficult cases. Kucińska-Chahwan A, Massalska D, Bijok J, Rudzińska M, Kopeć I, Rzymkiewicz L, Jakiel G, Roszkowski T. Ginekol Pol. 2014 Sep;85(9):703-7. Polish.
  4. Prenatal diagnosis of congenital myopathies and muscular dystrophies. Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T. Clin Genet. 2016 Sep;90(3):199-210. doi: 10.1111/cge.12801.
  5. Blue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus. Ciebiera M, Kucińska-Chahwan A, Piwowar W, Kalcowska A, Roszkowski T, Jakiel G. J Craniofac Surg. 2016 Nov;27(8):e737-e738. doi: 10.1097/SCS.0000000000003069.
  6. Aberrant right subclavian artery (ARSA)--a new sonographic marker for chromosomal aberrations in the second trimester--preliminary observations. Gorzelnik K, Bijok J, Kucińska-Chahwan A, Rudzińska M, Jóźwiak A, Bogdanowicz J, Jakiel G, Roszkowski T. Ginekol Pol. 2014 Oct;85(10):742-7.
  7. Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report. Massalska D, Bijok J, Kucińska-Chahwan A, Jamsheer A, Bogdanowicz J, Jakiel G, Roszkowski T. Ginekol Pol. 2014 Jul;85(7):541-4.
  8. Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results]. Bijok J, Gorzelnik K, Massalska D, Ilnicka A, Pawłowska B, Zimowski JG, Kucińska-Chahwan A, Jakiel G, Roszkowski T. Ginekol Pol. 2014 Mar;85(3):208-13.