دورية أكاديمية
أعرض في EDS

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

التفاصيل البيبلوغرافية
العنوان: Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
المؤلفون: Vermeulen C; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands., Geeven G; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands., de Wit E; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands., Verstegen MJAM; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands., Jansen RPM; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Kranenburg M; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands., de Bruijn E; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Pulit SL; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Kruisselbrink E; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands., Shahsavari Z; Department of Laboratory Medicine, Faculty of Paramedical Sciences, Shahid Beheshti University of Medical Sciences, Arabi Ave, 19839-63113 Tehran, Iran., Omrani D; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Arabi Ave, 1985717443 Tehran, Iran., Zeinali F; Kariminejad-Najmabadi Pathology & Genetics Center, #2 Medical Building, Sanat Sq., 14667-13713 Sharak Gharb, Tehran, Iran., Najmabadi H; Kariminejad-Najmabadi Pathology & Genetics Center, #2 Medical Building, Sanat Sq., 14667-13713 Sharak Gharb, Tehran, Iran., Katsila T; Department of Pharmacy, University of Patras University Campus, 26504 Patras-Rio, Greece., Vrettou C; Department of Medical Genetics, National and Kapodistrian University of Athens, Choremio Research Laboratory, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Patrinos GP; Department of Pharmacy, University of Patras University Campus, 26504 Patras-Rio, Greece., Traeger-Synodinos J; Department of Medical Genetics, National and Kapodistrian University of Athens, Choremio Research Laboratory, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Splinter E; Cergentis B.V., Yalelaan 62, 3584 CM Utrecht, the Netherlands., Beekman JM; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands., Kheradmand Kia S; Sara Medical Genetics Lab, Shariati St., Niam St., No 53, PO 1948854151 Tehran, Iran., Te Meerman GJ; Department of Genetics, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands., Ploos van Amstel HK; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., de Laat W; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands. Electronic address: w.delaat@hubrecht.eu.
المصدر: American journal of human genetics [Am J Hum Genet] 2017 Sep 07; Vol. 101 (3), pp. 326-339. Date of Electronic Publication: 2017 Aug 24.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics.
مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, Adrenal Hyperplasia, Congenital/*diagnosis , Biomarkers/*blood , Cystic Fibrosis/*diagnosis , Cystic Fibrosis Transmembrane Conductance Regulator/*genetics , Prenatal Diagnosis/*methods , Steroid 21-Hydroxylase/*genetics, Adrenal Hyperplasia, Congenital/blood ; Adrenal Hyperplasia, Congenital/genetics ; Cells, Cultured ; Cystic Fibrosis/blood ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/blood ; DNA/blood ; DNA/genetics ; Female ; Haplotypes ; Humans ; Pregnancy ; Steroid 21-Hydroxylase/blood
مستخلص: During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal diagnostics (NIPD) of monogenic diseases therefore relies on parental haplotyping and statistical assessment of inherited alleles from cffDNA, techniques currently unavailable for routine clinical practice. Here, we present monogenic NIPD (MG-NIPD), which requires a blood sample from both parents, for targeted locus amplification (TLA)-based phasing of heterozygous variants selectively at a gene of interest. Capture probes-based targeted sequencing of cfDNA from the pregnant mother and a tailored statistical analysis enables predicting fetal gene inheritance. MG-NIPD was validated for 18 pregnancies, focusing on CFTR, CYP21A2, and HBB. In all cases we could predict the inherited alleles with >98% confidence, even at relatively early stages (8 weeks) of pregnancy. This prediction and the accuracy of parental haplotyping was confirmed by sequencing of fetal material obtained by parallel invasive procedures. MG-NIPD is a robust method that requires standard instrumentation and can be implemented in any clinic to provide families carrying a severe monogenic disease with a prenatal diagnostic test based on a simple blood draw.
(Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.)
References: Nat Rev Genet. 2015 Jan;16(1):45-56. (PMID: 25404111)
J Obstet Gynaecol. 2014 Nov;34(8):669-72. (PMID: 24912022)
Nat Med. 2008 Sep;14(9):985-90. (PMID: 18670422)
Sci Transl Med. 2010 Dec 8;2(61):61ra91. (PMID: 21148127)
Nat Genet. 2014 Aug;46(8):818-25. (PMID: 24974849)
Clin Chem. 2011 Jan;57(1):92-101. (PMID: 21078840)
Eur J Hum Genet. 2017 Apr;25(4):416-422. (PMID: 28120840)
Am J Hum Genet. 1998 Apr;62(4):768-75. (PMID: 9529358)
Ann N Y Acad Sci. 2004 Jun;1022:119-23. (PMID: 15251949)
PLoS One. 2015 Mar 04;10(3):e0118270. (PMID: 25739099)
J Clin Oncol. 2014 Feb 20;32(6):579-86. (PMID: 24449238)
N Engl J Med. 2003 Aug 21;349(8):776-88. (PMID: 12930931)
Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):9236-41. (PMID: 10430926)
Clin Chim Acta. 2015 Dec 7;451(Pt A):9-13. (PMID: 25542529)
Adv Exp Med Biol. 2016;924:71-75. (PMID: 27753022)
Nat Biotechnol. 2014 Oct;32(10):1019-25. (PMID: 25129690)
Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):E8159-E8168. (PMID: 27799561)
N Engl J Med. 1998 Dec 10;339(24):1734-8. (PMID: 9845707)
Nat Med. 2013 Jul;19(7):939-45. (PMID: 23727931)
Genome Med. 2013 Feb 27;5(2):18. (PMID: 23445748)
Gene. 2014 Jul 10;544(2):252-8. (PMID: 24768736)
Prenat Diagn. 2013 Jun;33(6):555-62. (PMID: 23592512)
Ultrasound Obstet Gynecol. 2015 Jan;45(1):16-26. (PMID: 25042845)
Hum Reprod. 2009 May;24(5):1221-8. (PMID: 19155287)
Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71. (PMID: 18838674)
Clin Chem. 2012 Oct;58(10):1467-75. (PMID: 22896714)
Best Pract Res Clin Obstet Gynaecol. 2017 Feb;39:74-88. (PMID: 27856159)
Lancet. 1997 Aug 16;350(9076):485-7. (PMID: 9274585)
Prenat Diagn. 2016 Jul;36(7):636-42. (PMID: 27107169)
Eur J Pharm Sci. 2015 Oct 12;78:225-33. (PMID: 26209880)
Sci Transl Med. 2012 Jun 6;4(137):137ra76. (PMID: 22674554)
Obstet Gynecol. 2006 Sep;108(3 Pt 1):612-6. (PMID: 16946222)
Clin Chem. 2017 Feb;63(2):513-524. (PMID: 27932412)
J Clin Endocrinol Metab. 2014 Jun;99(6):E1022-30. (PMID: 24606108)
Clin Chim Acta. 2015 Jan 15;439:24-8. (PMID: 25286007)
Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63. (PMID: 19073917)
Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19920-5. (PMID: 19060211)
Nat Genet. 1994 Jun;7(2):169-75. (PMID: 7920636)
فهرسة مساهمة: Keywords: CAH; NIPD; TLA; beta thalassemia; cell-free DNA; cfDNA; congenital adrenal hyperplasia; cystic fibrosis; monogenic diseases; non-invasive prenatal diagnosis; targeted haplotyping; targeted locus amplification
المشرفين على المادة: 0 (Biomarkers)
0 (CFTR protein, human)
126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator)
9007-49-2 (DNA)
EC 1.14.14.16 (CYP21A2 protein, human)
EC 1.14.14.16 (Steroid 21-Hydroxylase)
تواريخ الأحداث: Date Created: 20170829 Date Completed: 20171027 Latest Revision: 20200824
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC5590845
DOI: 10.1016/j.ajhg.2017.07.012
PMID: 28844486
قاعدة البيانات: MEDLINE
الوصف
تدمد:1537-6605
DOI:10.1016/j.ajhg.2017.07.012