Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

被引：71

作者：

Deden, Chantal ^{[1
,2
]}

Neveling, Kornelia ^{[1
]}

Zafeiropopoulou, Dimitra ^{[3
]}

Gilissen, Christian ^{[3
]}

Pfundt, Rolph ^{[4
]}

Rinne, Tuula ^{[4
]}

de Leeuw, Nicole ^{[4
]}

Faas, Brigitte ^{[1
]}

Gardeitchik, Thatjana ^{[3
]}

Sallevelt, Suzanne C. E. H. ^{[5
]}

Paulussen, Aimee ^{[5
]}

Stevens, Servi J. C. ^{[5
]}

Sikkel, Esther ^{[6
]}

Elting, Mariet W. ^{[7
]}

van Maarle, Merel C. ^{[8
]}

Diderich, Karin E. M. ^{[9
]}

Corsten-Janssen, Nicole ^{[2
]}

Lichtenbelt, Klaske D. ^{[10
]}

Lachmeijer, Guus ^{[10
]}

Vissers, Lisenka E. L. M. ^{[4
]}

Yntema, Helger G. ^{[4
]}

Nelen, Marcel ^{[1
]}

Feenstra, Ilse ^{[1
]}

van Zelst-Stams, Wendy A. G. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, Dept Human Genet, Nijmegen, Netherlands

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands

[5] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[6] Radboud Univ Nijmegen, Med Ctr, Dept Obstet & Gynecol, Nijmegen, Netherlands

[7] Vrije Univ Amsterdam, AMsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

[8] Univ Amsterdam, AMsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

[9] Erasmus Univ, Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands

[10] Univ Utrecht, Med Ctr, Dept Genet, Utrecht, Netherlands

来源：

PRENATAL DIAGNOSIS | 2020年 / 40卷 / 08期

关键词：

DIAGNOSIS; ABNORMALITIES; MICROARRAY; INFANTS; UTILITY;

D O I：

10.1002/pd.5717

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging. Methods In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7). Results A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases. Conclusions These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.

引用

页码：972 / 983

页数：12

共 30 条

[1] Ultrasonographic soft markers of aneuploidy in second trimester fetuses [J].

Ali, Mohammed ;

Shazly, Sherif ;

Ali, Ali ;

Abdelbadee, Ahmed ;

Abbas, Ahmed .

MIDDLE EAST FERTILITY SOCIETY JOURNAL, 2012, 17 (03) :145-151

[2] Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data [J].

Boyle, Breidge ;

Addor, Marie-Claude ;

Arriola, Larraitz ;

Barisic, Ingeborg ;

Bianchi, Fabrizio ;

Csaky-Szunyogh, Melinda ;

de Walle, Hermien E. K. ;

Dias, Carlos Matias ;

Draper, Elizabeth ;

Gatt, Miriam ;

Garne, Ester ;

Haeusler, Martin ;

Kallen, Karin ;

Latos-Bielenska, Anna ;

McDonnell, Bob ;

Mullaney, Carmel ;

Nelen, Vera ;

Neville, Amanda J. ;

O'Mahony, Mary ;

Queisser-Wahrendorf, Annette ;

Randrianaivo, Hanitra ;

Rankin, Judith ;

Rissmann, Anke ;

Ritvanen, Annukka ;

Rounding, Catherine ;

Tucker, David ;

Verellen-Dumoulin, Christine ;

Wellesley, Diana ;

Wreyford, Ben ;

Zymak-Zakutnia, Natalia ;

Dolk, Helen .

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 2018, 103 (01) :F22-F28

[3] The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature [J].

Callaway, Jonathan L. A. ;

Shaffer, Lisa G. ;

Chitty, Lyn S. ;

Rosenfeld, Jill A. ;

Crolla, John A. .

PRENATAL DIAGNOSIS, 2013, 33 (12) :1119-1123

[4] Epidemiology of Multiple Congenital Anomalies in Europe: A EUROCAT Population-Based Registry Study [J].

Calzolari, Elisa ;

Barisic, Ingeborg ;

Loane, Maria ;

Morris, Joan ;

Wellesley, Diana ;

Dolk, Helen ;

Addor, Marie-Claude ;

Arriola, Larraitz ;

Bianchi, Fabrizio ;

Neville, Amanda J. ;

Budd, Judith L. S. ;

Klungsoyr, Kari ;

Khoshnood, Babak ;

McDonnell, Bob ;

Nelen, Vera ;

Queisser-Luft, Annette ;

Rankin, Judith ;

Rissmann, Anke ;

Rounding, Catherine ;

Tucker, David ;

Verellen-Dumoulin, Christine ;

de Walle, Hermien ;

Garne, Ester .

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2014, 100 (04) :270-276

[5] Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management [J].

Chandler, Natalie ;

Best, Sunayna ;

Hayward, Jane ;

Faravelli, Francesca ;

Mansour, Sahar ;

Kivuva, Emma ;

Tapon, Dagmar ;

Male, Alison ;

DeVile, Catherine ;

Chitty, Lyn S. .

GENETICS IN MEDICINE, 2018, 20 (11) :1430-1437

[6] Fetal exome sequencing: yield and limitations in a tertiary referral center [J].

Daum, H. ;

Meiner, V. ;

Elpeleg, O. ;

Harel, T. ;

Bar-Or, Libat ;

Eilat, Avital ;

Fahham, Duha ;

Gur, Michal ;

Hacohen, Nuphar ;

Kimchi, Adva ;

Macarov, Michal ;

Porat, Shay ;

Rosenak, Daniel ;

Shaag, Avraham ;

Shkedi-Rafid, Shiri ;

Szmulewicz, Adi ;

Yagel, Simcha ;

Yanai, Nili ;

Zvi, Naama ;

Banne, Ehud ;

Ben-Yehoshua, Sagi Josefsberg ;

Ephron, Noa ;

Lev, Dorit ;

Drugan, Arie ;

Irge, Dana ;

Mordechai, Shikma ;

Ben Yehuda, Adi ;

Freireich, Orit ;

Segel, Reeval .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2019, 53 (01) :80-86

[7] From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care [J].

de Koning, Maayke A. ;

Haak, Monique C. ;

van Scheltema, Phebe N. Adama ;

Peeters-Scholte, Cacha M. P. C. D. ;

Koopmann, Tamara T. ;

Nibbeling, Esther A. R. ;

Aten, Emmelien ;

den Hollander, Nicolette S. ;

Ruivenkamp, Claudia A. L. ;

Hoffer, Mariette J. V. ;

Santen, Gijs W. E. .

GENETICS IN MEDICINE, 2019, 21 (10) :2303-2310

[8] Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype? [J].

Diderich, Karin ;

Joosten, Marieke ;

Govaerts, Lutgarde ;

Van Opstal, Diane ;

Go, Attie ;

Knapen, Maarten ;

Galjaard, Robert-Jan ;

Hoefsloot, Lies ;

Srebniak, Malgorzata .

PRENATAL DIAGNOSIS, 2019, 39 (11) :1039-1040

[9] First and second trimester screening for fetal structural anomalies [J].

Edwards, Lindsay ;

Hui, Lisa .

SEMINARS IN FETAL & NEONATAL MEDICINE, 2018, 23 (02) :102-111

[10] Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance [J].

Karim, J. N. ;

Roberts, N. W. ;

Salomon, L. J. ;

Papageorghiou, A. T. .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2017, 50 (04) :429-441

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