Skip to main content
Hauptrubriken
Zeitschriften Fortbildung Hebammen Bücher Kongresse & Live-Webinare
Social Media - Folgen Sie uns!
Instagram Facebook LinkedIn Instagram Hebammen
Service
Jobbörse Kundenservice Info & Hilfe
Fokus-Themen
Chronisch-entzündliche Darmerkrankung COVID-19-Update Diabetes Hautpflege Klima & Gesundheit Hygiene Intensivpflege Kardiologische Pflege Mobilisation Nachhaltigkeit Nierenerkrankungen Obstipation Onkologische Pflege Palliativpflege Schmerz Sucht in der Pflege Vielfalt, Gleichberechtigung und Inklusion Wundversorgung
Erweiterte Suche
Anmelden
nach oben
Erschienen in:
Kapitel lesen Erstes Kapitel lesen

2025 | OriginalPaper | Buchkapitel

27. Chromosomale und nicht chromosomale Fehlbildungssyndrome

verfasst von : Prof. Dr. med. Sevgi Tercanli, Prof. Dr. med. Isabel Filges, Prof. Dr. med. Peter Miny, Prof. Dr. med. Heiko M. Reutter, Prof. Dr. med. Ulrich Gembruch

Erschienen in: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

Verlag: Springer Berlin Heidelberg

Einloggen, um Zugang zu erhalten

Zusammenfassung

Infolge kontinuierlicher Fortschritte bei der Visualisierung der fetalen Anatomie durch Ultraschall sowie der Verfügbarkeit neuer hochauflösender genomischer Untersuchungsmethoden wie Mikroarrays (CMA) und Hochdurchsatzsequenzierung (HTS) haben sich die Rahmenbedingungen der Schwangerschaftsvorsorge in den letzten Jahren grundlegend verändert. Durch einen kombinierten Einsatz von bildgebenden und genetischen Screeninguntersuchungen ergänzt durch eine gezielte invasive Diagnostik in Hochrisikosituationen kann das Risiko für Chromosomenanomalien heute in jeder Schwangerschaft massiv gesenkt werden. Auch der Einsatz von Hochdurchsatzsequenzierungen in der Differenzialdiagnostik nicht chromosomaler Syndrome zählt heute zur Routinediagnostik. Dieses Kapitel behandelt die für eine sonografische Diagnostik relevanten Befunde anhand einer exemplarischer Auswahl chromosomaler und nicht chromosomaler Fehlbildungssyndrome.
Vorheriges Kapitel Fetale Thrombozytopenie
Nächstes Kapitel Fetale Infektionen
Literatur
ACOG (2013) The use of chromosomal microarray analysis in prenatal diagnosis. ACOG Committee Opinion No. 581. Obstet Gynecol 122:1374–1377CrossRef
Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH (2013) Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 41:247–261PubMedCrossRef
Benacerraf BR (2005) The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Semin Perinatol 29:386–394PubMedCrossRef
Benacerraf BR, Laboda LA, Frigoletto FD Jr (1992) Thickened nuchal fold in fetuses not at risk for aneuploidy. Radiology 184:239–242PubMedCrossRef
Brand H, Whelan CW, Duyzend M, Lemanski J, Salani M, Hao SP, Wong I, Valkanas E, Cusick C, Genetti C, Dobson L, Studwell C, Gianforcaro K, Wilkins-Haug L, Guseh S, Currall B, Gray K, Talkowski ME (2023) High-resolution and noninvasive fetal exome screening. N Engl J Med 389:2014–2016PubMedPubMedCentralCrossRef
Bromley B, Lieberman E, Shipp TD et al (2002a) Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med 21:1387–1394PubMedCrossRef
Bromley B, Lieberman E, Shipp TD et al (2002b) The genetic sonogram, a method for risk assessment for Down syndrome in the mid trimester. J Ultrasound Med 21:1087–1096PubMedCrossRef
Buchanan JA, Chitayat D, Kolomietz E, Lee HC, Scherer SW, Speevak MD, Sroka H, Stavropoulos DJ (2015) Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus. J Med Genet 52:585–586PubMedCrossRef
Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, Borrell A (2015) Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 46:650–658PubMedCrossRef
Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC, Elements of Morphology Consortium (2013) Elements of morphology: general terms for congenital anomalies. Am J Med Genet A 161:2726–2733CrossRef
Miceikaitė I, Hao Q, Brasch-Andersen C, Fagerberg CR, Torring PM, Kristiansen BS, Ousager LB, Sperling L, Ibsen MH, Löser K, Larsen MJ (2023) Comprehensive noninvasive fetal screening by deep trio-exome sequencing. N Engl J Med 389:2017–2019PubMedCrossRef
Nyberg DA, Resta RG, Luthy DA, Hickok DE, Mahony BS, Hirsch JH (1990) Prenatal sonographic findings of Down syndrome: review of 94 cases. Obstet Gynecol 76:370–377PubMed
Nyberg DA, Souter VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA (2001) Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 20:1053–1063PubMedCrossRef
Persico N, Boito S, Volpe P, Ischia B, Gentile M, Ronzoni L, De Robertis V, Fabietti I, Olivieri C, Periti E, Ficarella R, Silipigni R, Rembouskos G (2020) Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies. Prenat Diagn 40:1474–1481PubMedCrossRef
Schinzel A (2001) Catalogue of unbalanced chromosome aberrations in man, 2. Aufl. De Gruyter
Sheppard TH (1995) Katalog of teratogenic agens. John’s Hopkins University Press, S 65–368
Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD (2001) Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA 285:1044–1055PubMedCrossRef
Smith-Bindman R, Chu P, Goldberg JD (2007) Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn 27:535–544PubMedCrossRef
South ST, Lee C, Lamb AN, Higgins AW, Kearney HM, Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee (2013) ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 15:901–909PubMedCrossRef
Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW (1982) Errors in morphogenesis: concepts and terms. J Pediatr 100:160–165PubMedCrossRef
Ting YH, Lao TT, Lau TK, Chung MK, Leung TYJ (2011) Isolated absent or hypoplastic nasal bone in the second trimester fetus: is amniocentesis necessary? Matern Fetal Neonatal Med 24:555–558CrossRef
Acanfora MM, Stirnemann J, Marchitelli G, Salomon LJ, Ville Y (2016) Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome. Ultrasound Obstet Gynecol 48:181–184PubMedCrossRef
Al Ghadeer HA, Alghazal FA, Alessa MA, Alghafli JA, Alkhalaf GI, Bumejdad HN, Alherz RM, Alshaikh Saleh RA, Almumtin KA, Abu Sinah AK (2023) DIS3L2 gene mutation causes the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Cureus 15:e49777
Aoki Y, Niihori T, Inoue S, Matsubara Y (2016) Recent advances in RASopathies. J Hum Genet 61:33–39PubMedCrossRef
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM (2011) CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 48:334–342PubMedCrossRef
Bianconi SE, Cross JL, Wassif CA, Porter FD (2015) Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith-Lemli-Opitz syndrome. Expert Opin Orphan Drugs 3:267–280PubMedPubMedCentralCrossRef
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Digilio CM, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM (2023) Prenatal screening and diagnostic considerations for 22q11.2 microdeletions. Genes 14:160PubMedPubMedCentralCrossRef
Biard JM, Payrat S, Clapuyt P, Barrea C, Benoit V, Baldin P, Bernard P, Van Grambezen B, Sznajer Y (2021) Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature. Eur J Med Genet 64:104189PubMedCrossRef
Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, Philip N (2016) Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. Prenat Diagn 36:561–567PubMedCrossRef
Clark DM, Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, Krantz ID (2012) Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A 158A:1848–1856PubMedPubMedCentralCrossRef
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L (2013) The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet 6:248–254PubMedCrossRef
Corsten-Janssen N, van Ravenswaaij-Arts CMA, Kapusta L (2017) Congenital arch vessel anomalies in CHARGE syndrome: a frequent feature with risk for co-morbidity. Int J Cardiol Heart Vasc 12:21–25
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Ramos VF, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port LM, Goldenberg A, Bonneau D, Rossignol S, Toutain A (2013) Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 163C:92–105PubMedCrossRef
D’Antonio F, Khalil A, Zidere V, Carvalho JS (2016) Fetuses with right aortic arch: a multicenter cohort study and meta-analysis. Ultrasound Obstet Gynecol 47:423–432PubMedCrossRef
Deardorff MA, Noon SE, Krantz ID (2016) Cornelia de Lange syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K (Hrsg) GeneReviews. University of Washington, Seattle
Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A (2016) A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. Am J Med Genet A 170A:392–402PubMedCrossRef
Goldenberg A, Wolf C, Chevy F, Benachi A, Dumez Y, Munnich A, Cormier-Daire V (2004) Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. Am J Med Genet A 124A:423–426PubMedCrossRef
Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F (2015) Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association. Hum Mutat 36:1150–1154PubMedCrossRef
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM (2006) CHARGE syndrome: the phenotypic spectrum of mutations in theCHD7 gene. J Med Genet 43:306–314PubMedCrossRef
Kagan KO, Berg C, Dufke A, Geipel A, Hoopmann M, Abele H (2015) Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn 35:394–399PubMedCrossRef
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch’ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID (2023) Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A 191:2113–2131PubMedPubMedCentralCrossRef
Kehrer C, Hoischen A, Menkhaus R, Schwab E, Müller A, Kim S, Kreiß M, Weitensteiner V, Hilger A, Berg C, Geipel A, Reutter H, Gembruch U (2016) Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. Prenat Diagn 36:961–965PubMedCrossRef
Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T (2015) Twenty-one years to the right diagnosis – clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome. Am J Med Genet A 167A:151–155PubMedCrossRef
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 78:303–314PubMedCrossRef
Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T (2012) Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet 49:698–707PubMedCrossRef
Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB (2016a) Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet 90:21–27PubMedCrossRef
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo CM, Larizza L, Riccio A, Ferrero GB (2016b) (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. Eur J Hum Genet 24:183–190PubMedCrossRef
Nayeri UA, West AB, Grossetta Nardini HK, Copel JA, Sfakianaki AK (2013) Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome. Ultrasound Obstet Gynecol 41:366–374PubMedCrossRef
Perolo A, De Robertis V, Cataneo I, Volpe N, Campobasso G, Frusca T, Ghi T, Prandstraller D, Pilu G, Volpe P (2016) Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies. Ultrasound Obstet Gynecol 48:200–203PubMedCrossRef
Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G (2005) Perlman syndrome: clinical report and nine-year follow-up. Am J Med Genet A 139A:131–135PubMedCrossRef
Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE, Lacro RV (2014) Cardiovascular disease in Noonan syndrome. Arch Dis Child 99:629–634PubMedCrossRef
Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D’Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M (2012) Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet 55:81–90PubMedCrossRef
Reutter H, Gurung N, Ludwig M (2014) Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. Am J Med Genet A 164A:1611–1613PubMedCrossRef
Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F (2014) Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int 85:1310–1317 CrossRef
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43:211–217PubMedCrossRef
Shuman C, Beckwith JB, Weksberg R (2016) Beckwith-Wiedemann syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K (Hrsg) GeneReviews. University of Washington, Seattle, S 1993–2017
Simonini C, Hoopmann M, Kagan KO, Schröder T, Gembruch U, Geipel A (2022) Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome. BMC Pregnancy Childbirth 22:327PubMedPubMedCentralCrossRef
Slavotinek AM (2004) Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A 124A:427–433PubMedCrossRef
So PL, Luk HM, Cheung KW, Hui W, Chung MY, Mak ASL, Lok WY, Yu KPT, Cheng SSW, Hau EWL, Ho S, Lam STS, Lo IFM (2021) Prenatal phenotype of Kabuki syndrome: A case series and literature review. Prenat Diagn 41:1089–11003PubMedCrossRef
Spaggiari E, Vuillard E, Khung-Savatovsky S, Muller F, Oury JF, Delezoide AL, Guimiot F (2013) Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome. Ultrasound Obstet Gynecol 41:341–342PubMedCrossRef
Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M (2017) Noonan syndrome – a new survey. Arch Med Sci 13:215–222PubMedCrossRef
Thellier E, Levaillant JM, Roume J, Quarello E, Bault JP (2017) Cornelia de Lange syndrome: specific features for a prenatal diagnosis. Ultrasound Obstet Gynecol 49:668–670PubMedCrossRef
Tingaud-Sequeira A, Trimouille A, Sagardoy T, Lacombe D, Rooryck C (2022) Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. J Med Genet 59:417–427PubMedCrossRef
Wu X, Xie X, Su L, Lin N, Liang B, Guo N, Chen Q, Xu L, Huang H (2021) Prenatal diagnosis of Pallister-Killian syndrome and literature review. J Cell Mol Med 25:8929–8935
Yu QX, Zhen L, Li DZ (2024) Fetal phenotype of CHARGE syndrome with a molecular confirmation: A series of 13 cases. Fetal Diagn Ther 51:388–394
Zhang YL, Jing XY, Chen GL, Zhen L, Li DZ (2022) Sotos syndrome: A study of antenatal presentation. Eur J Obstet Gynecol Reprod Biol 279:1–4CrossRef
Metadaten
Titel
Chromosomale und nicht chromosomale Fehlbildungssyndrome
verfasst von
Prof. Dr. med. Sevgi Tercanli
Prof. Dr. med. Isabel Filges
Prof. Dr. med. Peter Miny
Prof. Dr. med. Heiko M. Reutter
Prof. Dr. med. Ulrich Gembruch
Copyright-Jahr
2025
Verlag
Springer Berlin Heidelberg
Buch
Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

Print ISBN: 978-3-662-67372-0

Electronic ISBN: 978-3-662-67373-7

Copyright-Jahr: 2025

DOI
https://doi.org/10.1007/978-3-662-67373-7_27