Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome

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(1). DOI: 10.17772/gp/57851. . . . . . !. ". !. . . . $. %. &. $. . '. %. (. &. . . . . #. 4 6 % ' ) 3 6 = + - 2 % 0 2 ) poł ożn i c two. Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome Trendy w diagnostyce prenatalnej niespecyficznych zespołów wad rozwojowych z uwzględnieniem doświadczeń własnych i badania nad częstością prenatalną zespołu Smitha, Lemlego i Opitza $OHNVDQGUD-H]HOD6WDQHN1,3(ZD0DáXQRZLF]26LHMND$QQD20DU]HQD.XFKDUF]\N1, %RĪHQQD*RU\OXN.R]DNLHZLF]1+HQU\ND6RGRZVND30DáJRU]DWD.UDMHZVND:DODVHN1 Departments of: 1 Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland 2 Biochemistry, Radioimunology and Experimental Medicine, The Children’s Memorial Health Institute, Warszawa, Poland 3 Non-public Healthcare Center „Genom”, Ruda Śląska, Poland. Abstract Aim of the study: Biochemical diagnosis of fetuses with multiple malformations – an attempt to determine the frequency of prenatal Smith-Lemli-Opitz syndrome. Discussion on trends in prenatal diagnosis of non-specific multiple malformations disorders. Material and methods: A total of 117 fetal samples were obtained. They were analyzed with gas chromatography/mass spectrometry (GC/MS) method to assess the concentration of 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) in amniotic fluid samples and(or) to establish 7-dehydroestriol/estriol and 8-dehydropregnanetriol/pregnanetriol ratios in maternal urine. Results: In 4 cases Smith-Lemli-Opitz syndrome was confirmed. Conclusions: Biochemical GC/MS sterol analyses of amniotic fluid or maternal urinary metabolites toward SmithLemli-Opitz syndrome, as cheap tests, should be performed in all pregnancies with suggestive ultrasound features (holoprosencephaly and(or) atrioventricular canal and(or) genital anomalies), especially when nuchal translucency is increased >3mm, and after exclusion of chromosomal aberration in routine karyotyping or even arrayCGH.. Key words: Smith-Lemli-Opitz syndrome / prenatal diagnosis / GC/MS / aCGH /. Corresponding author: Aleksandra Jezela-Stanek, Zakład Genetyki Medycznej, Instytut „Pomnik – Centrum Zdrowia Dziecka”, Aleja Dzieci Polskich 20, 04-736 Warszawa tel. 22 815 74 52, fax 22 815 74 57 mail: jezela@gmail.com. 598. . . . . . . . . .

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(3). . . Otrzymano: 26.02.2015 Zaakceptowano do druku: 25.03.2015. . . . . . .

(4) . . . . . . !. ". !. . . . $. %. &. $. . '. %. (. &. . . ). *. +. ,. -. .. DOI: 10.17772/gp/57851. #. *. /. 0. 1. 2. +. 3. 2. -. poł oż ni c two. Aleksandra Jezela-Stanek et al. Trends in prenatal diagnosis of non-specific multiple malformations disorders.... Streszczenie Cel pracy: Diagnostyka biochemiczna płodów z mnogimi wadami rozwojowymi – próba określenia prenatalnej częstości zespołu Smitha, Lemlego i Opitza. Omówienie trendów w diagnostyce prenatalnej niespecyficznych zespołów wad rozwojowych. Mmateriał i metody: Przeprowadzono 117 diagnostyk prenatalnych, obejmujących badania biochemiczne metodą GC/MS (chromatografia gazowa sprzężona ze spektrometrią mas) celem określenia: stężenia 7i 8-dehydrocholesteolu w płynie owodniownym oraz wskaźników 7-dehydroestriol/estriol i 8-dehydropregnantriol/ pregnantriol w próbce moczu kobiet ciężarnych. Wyniki: Potwierdzono 4 przypadki zespołu Smitha, Lemlego i Opiza. Wnioski: Diagnostyka biochemiczna metodą GC/MS celem oceny specyficznych steroli w płynie owodniowym lub metabolitów w moczu kobiety ciężarnej w kierunku zespołu Smitha, Lemlego i Opitza, jako badanie tanie, powinna być wykonana w każdym przypadku gdy na podstawie badania USG u płodów stwierdzono: holoprosencefalię i(lub) kanał przedsionkowo-komorowy i(lub) anomalie zewnętrznych narządów płciowych, zwłaszcza przy zwiększonej przezierności karkowej (>3 mm) i po wykluczeniu aberracji chromosomowych w klasycznym badaniu cytogenetycznym czy nawet metodą mikromacierzy (array CGH).. Słowa kluczowe: ]HVSyá6PLWKD/ Lemlego i Opitza / diagnostyka prenatalna / / GC/MS / aCGH /. Introduction. SUHQDWDOGLDJQRVLVVHHPVZHOOHVWDEOLVKHGIRUUH¿QLQJGLDJQRVLV LQ FDVHV ZLWK VXVSLFLRXV RU LQFRQFOXVLYH GLDJQRVLV RI FKURPR VRPDOVWUXFWXUDOFKDQJH+RZHYHUODUJHUSRSXODWLRQEDVHGVWXG LHVZLWKVDPSOHVSURFHVVHGIRUERWKDUUD\&*+DQGFRQYHQWLRQDO F\WRJHQHWLF DQDO\VLV DUH VWLOO QHFHVVDU\ EHIRUH DUUD\&*+ FDQ EHUHFRPPHQGHGDVD¿UVWOLQHWHVWLQURXWLQHSUHQDWDOGLDJQRVLV SUDFWLFHIRULGHQWL¿FDWLRQDQGPROHFXODUFKDUDFWHUL]DWLRQRIFKUR PRVRPDODEQRUPDOLWLHVLQWKHIHWXVHV>@ 0RUHRYHUWKHSUHVHQFHRIDDEHUUDWLRQDORQHGRHVQRWQHFHV VDULO\PHDQWKDWWKHFRS\QXPEHUDOWHUDWLRQFDXVHVWKHREVHUYHG SKHQRW\SHDQGLVQRWHTXLYDOHQWWRFRQVLGHUDFRS\QXPEHULP EDODQFHDVWREHSDWKRJHQLFRQWKHEDVLVRQO\RIWKHDVVRFLDWLRQ ZLWKIHWDOPDOIRUPDWLRQLQGHQWL¿HGE\XOWUDVRXQGH[DPLQDWLRQ ,QWKHGLDJQRVLVRIVSHFL¿FIHWDOPDOIRUPDWLRQV¶FDXVHVH[ FHSWFKURPRVRPDODEHUUDWLRQVRQHVKRXOGUHPHPEHUDOVRDERXW PRQRJHQLFGLVRUGHUVZKLFKREYLRXVO\DUHQRWSRVVLEOHWREHGH WHFWHG ZLWK DUUD\ &*+ ,Q WKH SUHJQDQFLHV ZLWK QRUPDO NDU\R W\SH ;;RU;<

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(54) . . . . . . . . . . . . . . . DOI: 10.17772/gp/57851. poł oż n i c two. . . . . . . . . . . . . . . . . . . . . . . . . . . Aleksandra Jezela-Stanek et al. Trends in prenatal diagnosis of non-specific multiple malformations disorders... K O M U N I K A T. Ref erenc e s 1. Le Scouarnec S, Gribble SM. Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity. 2012, 108 (1), 75-85. 2. Miller DT, Adam MP, Aradhya S, [et al.]. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010, 86 (5), 749-764. 3. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci. 2009, 1151, 157-166. 4. de Vries BB, Pfundt R, Leisink M, [et al.]. Diagnostic genome profiling in mental retardation. Am J Hum Genet. 2005, 77 (4), 606-616. 5. Le Caignec C, Boceno M, Saugier-Veber P, [et al.]. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet. 2005, 42 (2), 121-128. 6. Fiorentino F, Caiazzo F, Napolitano S, [et al.]. Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases. Prenat Diagn. 2011, 31 (13), 1270-1282. 7. Breman A, Pursley AN, Hixson P, [et al.]. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012, 32 (4), 351-361. 8. Shaffer LG, Dabell MP, Fisher AJ, [et al.]. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn. 2012, 32 (10), 976-985. 9. Van den Veyver IB, Patel A, Shaw CA, [et al.]. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009, 29 (1), 29-39. 10. Kleeman L, Bianchi DW, Shaffer LG, [et al.]. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn. 2009, 29 (13), 1213-1217. 11. Valduga M, Philippe C, Bach Segura P, [et al.]. A retrospective study by oligonucleotide arrayCGH analysis in 50 fetuses with multiple malformations. Prenat Diagn. 2010, 30 (4), 333-341. 12. Faas BH, van der Burgt I, Kooper AJ, [et al.]. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J Med Genet. 2010, 47 (9), 586-594. 13. D’Amours G, Kibar Z, Mathonnet G, [et al.]. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet. 2012, 81 (2), 128-141. 14. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol. 2009, 114 (5), 1161-1163. 15. Shackleton CH, Roitman E, Kratz LE, [et al.]. Equine type estrogensproduced by a pregnant woman carrying a Smith–Lemli–Opitz syndrome fetus. J Clin Endocrinol Metab 1999, 84, 1157–1159.. Nowy zbiór. Rekomendacje Polskiego Towarzystwa Ginekologicznego z lat 2011–2015. 16. Jezela-Stanek A, Małunowicz EM, Ciara E, [et al.]. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Clin Genet. 2006, 69 (1), 77-85. 17. Nowaczyk MJ, Waye JS, Douketis JD. DHCR7 mutation carrier rates and prevalence of the RSH/Smith–Lemli–Opitz syndrome: Where are the patients? Am J Med Genet Part A. 2006, 140A, 2057–2062. 18. Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, [et al.]. DHCR7 mutations and genotypephenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Clin Genet. 2004, 66 (6), 517-524. 19. Jezela-Stanek A, Ciara E, Małunowicz E, [et al.]. Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? J Inherit Metab Dis. 2010, 33 Suppl 3, 241-248.. już w sprzedaży!. 20. Haas D, Haege G, Hoffmann GF, [et al.]. Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet A. 2013, 161A (5), 10081011.. Zamówienia: onko@ump.edu.pl tel. 61 84 19 330. 21. Goldenberg A, Wolf C, Chevy F, [et al.]. Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. Am J Med Genet A. 2004, 124A (4), 423-426. Review. 22. Ciara E, Popowska E, Piekutowska-Abramczuk D, [et al.]. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Eur J Med Genet. 2006, 49 (6), 499-504.. Cena detaliczna 50 zł. Przy zamówieniach powyżej 15 egzemplarzy udzielamy rabatów.. 23. Quélin C1, Loget P, Verloes A, [et al.] Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet. 2012, 55 (2), 81-90. 24. Maymon R, Ogle RF, Chitty LS. Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops, Prenat Diagn. 1999, 19, 105-107.. Wydawca: Wielkopolskie Towarzystwo Onkologii Ginekologicznej 60-535 Poznań, ul. Polna 33 tel.: + 48 61 84 19 330 e-mail: ginpol@onet.eu. 25. Shackleton CH, Marcos J, Palomaki GE, [et al.]. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS). Am J Med Genet Part A. 2007, 143A, 2129–2136.. Zbiór Rekomendacji wydano na zlecenie Redakcji Ginekologii Polskiej i Polskiego Towarzystwa Ginekologicznego. 602. . . . . . . . . .

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