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© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions. Screening options include noninvasive prenatal screening (NIPS) and imaging. The potential benefits and limitations of each screening method should be clearly conveyed. NIPS, a genetic option available from 10 weeks gestational age, has a 70–83% detection rate and a 40–50% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS. Findings vary, related to detection methods, gestational age, and relative specificity. Conotruncal cardiac anomalies are more strongly associated than skeletal, urinary tract, or other congenital anomalies such as thymic hypoplasia or cavum septi pellucidi dilatation. Among others, intrauterine growth restriction and polyhydramnios are additional associated, prenatally detectable signs. Preconception genetic counselling should be offered to males and females with 22q11.2DS, as there is a 50% risk of transmission in each pregnancy. A previous history of a de novo 22q11.2 microdeletion conveys a low risk of recurrence. Prenatal genetic counselling includes an offer of screening or diagnostic testing and discussion of results. The goal is to facilitate optimal perinatal care.

Details

Title
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
Author
Blagowidow, Natalie 1   VIAFID ORCID Logo  ; Nowakowska, Beata 2 ; Schindewolf, Erica 3 ; Grati, Francesca Romana 4 ; Putotto, Carolina 5   VIAFID ORCID Logo  ; Breckpot, Jeroen 6 ; Swillen, Ann 6 ; Crowley, Terrence Blaine 7   VIAFID ORCID Logo  ; Loo, Joanne C Y 8   VIAFID ORCID Logo  ; Lairson, Lauren A 7 ; Óskarsdóttir, Sólveig 9   VIAFID ORCID Logo  ; Boot, Erik 10   VIAFID ORCID Logo  ; Garcia-Minaur, Sixto 11 ; Digilio, Maria Cristina 12 ; Marino, Bruno 5 ; Coleman, Beverly 13 ; Moldenhauer, Julie S 14 ; Bassett, Anne S 15   VIAFID ORCID Logo  ; McDonald-McGinn, Donna M 16   VIAFID ORCID Logo 

 Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA 
 Cytogenetic Laboratory, Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland 
 Center for Fetal Diagnosis and Treatment and the 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 
 R&D Department, Menarini Biomarkers Singapore, Via Giuseppe di Vittorio 21/b3, 40013 Castel Maggiore, Italy 
 Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome (Italy), Viale del Policlinico 155, 00161 Roma, Italy 
 Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium 
 Division of Human Genetics, The 22q and You Center, and Clinical Genetics Center, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 
 The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada 
 Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden; Department of Paediatrics, Queen Silva Children’s Hospital, 416 50 Gothenburg, Sweden 
10  The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada; Advisium’s Heeren Loo, Berkenweg 11, 3818 LA Amersfoort, The Netherlands; Department of Psychiatry and Neuropsychology, Maastricht University, 6211 LK Maastricht, The Netherlands 
11  Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, 28046 Madrid, Spain 
12  Division of Human Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00163 Roma, Italy 
13  Center for Fetal Diagnosis and Treatment and the 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Radiology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 
14  Center for Fetal Diagnosis and Treatment and the 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Obstetrics, Gynecology, and Surgery, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA 
15  The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, ON M5S 2S1, Canada; Division of Cardiology, Department of Medicine, and Centre for Mental Health, and Toronto General Hospital Research Institute, University Health Network, Toronto, ON M5G 2N2, Canada 
16  Division of Human Genetics, The 22q and You Center, and Clinical Genetics Center, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Roma, Italy 
First page
160
Publication year
2023
Publication date
2023
Publisher
MDPI AG
e-ISSN
20734425
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2767212579
Copyright
© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.