Noninvasive fetal RHD genotyping by microfluidics digital PCR using maternal plasma from two alloimmunized women with the variant RHD(IVS3+1G>A) allele

Prenatal Diagnosis

Volumn 33, Issue 12, 2013, Pages 1214-1216

  Tsui, Nancy B Y ^a,b   Hyland, Catherine A ^c   Gardener, Glenn J ^d   Danon, David ^e,f   Fisk, Nicholas M ^e,f   Millard, Glenda ^c   Flower, Robert L ^c   Dennis Lo, Y M ^a,b  

^a Department of Anatomical and Cellular Pathology   (China)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c AUSTRALIAN RED CROSS BLOOD SERVICE   (Australia)

^d MATER MEDICAL RESEARCH INSTITUTE   (Australia)

^e ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^f UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RHESUS D ANTIBODY; RHESUS D ANTIGEN;

ALLELE; ALLOIMMUNIZATION; BLOOD GROUP; BLOOD GROUP KELL SYSTEM; BLOOD SAMPLING; DIAGNOSTIC ACCURACY; DIGITAL POLYMERASE CHAIN REACTION; GENE DELETION; GENOTYPE; GENOTYPING TECHNIQUE; HUMAN; INDEL MUTATION; LETTER; MATERNAL BLOOD; MATERNAL PLASMA; MICROFLUIDICS; MOLECULAR TYPING; NON INVASIVE PROCEDURE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; UMBILICAL CORD BLOOD;

DNA; FEMALE; FETAL BLOOD; GENOTYPE; HUMANS; MALE; MICROFLUIDICS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; RH ISOIMMUNIZATION; RH-HR BLOOD-GROUP SYSTEM;

EID: 84889607086     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4230     Document Type: Letter

References (10)

1. Lo YMD, Hjelm NM, Fidler C, et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med 1998;339(24):1734-8.
2. Kormoczi GF, Gassner C, Shao CP, et al. A comprehensive analysis of DEL types: partial DEL individuals are prone to anti-D alloimmunization. Transfusion 2005;45(10):1561-7.
3. Gardener GJ, Legler TJ, Hyett JA, et al. Anti-D in pregnant women with the RHD(IVS3+1G>A)-associated DEL phenotype. Transfusion 2012;52(9):2016-9.
4. Lun FMF, Chiu RWK, Chan KCA, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54(10):1664-72.
5. Lun FMF, Tsui NBY, Chan KCA, et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A 2008;105(50):19920-5.
6. Chan FY, Cowley NM, Wolter L, et al. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. Prenat Diagn 2001;21(4):321-6.
7. Wagner FF. Rhesus base: D negative and DEL alleles. [WWW document]. URL http://www.uni-ulm.de/%7Efwagner/RH/RB/ [accessed on 13 November 2012].
8. Li Y, Finning K, Daniels G, et al. Noninvasive genotyping fetal Kell blood group (KEL1) using cell-free fetal DNA in maternal plasma by MALDI-TOF mass spectrometry. Prenat Diagn 2008;28(3):203-8.
9. Rieneck K, Bak M, Jonson L, et al. Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma. Transfusion 2013, DOI: 10.1111/trf.12172
10. Kiss MM, Ortoleva-Donnelly L, Beer NR, et al. High-throughput quantitative polymerase chain reaction in picoliter droplets. Anal Chem 2008;80(23):8975-81.