Prenatal prediction of fetal Rh C, c and E status by amplification of maternal cfDNA and deep sequencing
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Prenatal prediction of fetal Rh C, c and E status by amplification of maternal cfDNA and deep sequencing. / Rieneck, Klaus; Clausen, Frederik Banch; Bergholt, Thomas; Nørgaard, Lone Nikoline; Dziegiel, Morten Hanefeld.
In: Prenatal Diagnosis, Vol. 41, No. 11, 2021, p. 1380-1388.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Prenatal prediction of fetal Rh C, c and E status by amplification of maternal cfDNA and deep sequencing
AU - Rieneck, Klaus
AU - Clausen, Frederik Banch
AU - Bergholt, Thomas
AU - Nørgaard, Lone Nikoline
AU - Dziegiel, Morten Hanefeld
N1 - Publisher Copyright: © 2021 John Wiley & Sons Ltd.
PY - 2021
Y1 - 2021
N2 - Background: The Rh blood group system has considerable clinical importance. The C, c, and E antigens are targets of alloantibodies. Anti-C, anti-c or anti-E alloreactive antibodies produced in pregnant women can cause anemia of a fetus carrying the corresponding antigens. Aims: Based on NGS technology, we have developed a noninvasive diagnostic assay to predict the fetal blood group of C, c or E antigens by sequencing cell-free DNA (cfDNA) during pregnancy. Materials and methods: The SNVs underlying either the C, c or E antigens were PCR amplified and sequenced using NGS on a MiSeq instrument. The DNA sequences encoding the C, c or E antigen were counted, as were the number of total sequences. Based on the percentage of fetally derived target SNVs inherited from the father, the fetal blood group could be predicted. Results: The results of 55 consecutive RHCE prenatal analyses with postnatal serological blood group determination of 30 newborns showed no discordant results. A threshold discerning positive from negative samples was set at 0.05% specific reads. Discussion: Noninvasive, prenatal prediction of fetal blood groups by sequencing cfDNA for the detection of low-level RHCE*C, RHCE*c and RHCE*E sequences was established as an accurate and robust assay applicable for use in clinical settings.
AB - Background: The Rh blood group system has considerable clinical importance. The C, c, and E antigens are targets of alloantibodies. Anti-C, anti-c or anti-E alloreactive antibodies produced in pregnant women can cause anemia of a fetus carrying the corresponding antigens. Aims: Based on NGS technology, we have developed a noninvasive diagnostic assay to predict the fetal blood group of C, c or E antigens by sequencing cell-free DNA (cfDNA) during pregnancy. Materials and methods: The SNVs underlying either the C, c or E antigens were PCR amplified and sequenced using NGS on a MiSeq instrument. The DNA sequences encoding the C, c or E antigen were counted, as were the number of total sequences. Based on the percentage of fetally derived target SNVs inherited from the father, the fetal blood group could be predicted. Results: The results of 55 consecutive RHCE prenatal analyses with postnatal serological blood group determination of 30 newborns showed no discordant results. A threshold discerning positive from negative samples was set at 0.05% specific reads. Discussion: Noninvasive, prenatal prediction of fetal blood groups by sequencing cfDNA for the detection of low-level RHCE*C, RHCE*c and RHCE*E sequences was established as an accurate and robust assay applicable for use in clinical settings.
U2 - 10.1002/pd.5976
DO - 10.1002/pd.5976
M3 - Journal article
C2 - 34062001
AN - SCOPUS:85107179029
VL - 41
SP - 1380
EP - 1388
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 11
ER -
ID: 271985299