Fetal Rhesus D genotyping on amniocytes in alloimmunised pregnancies using fluorescence duplex polymerase chain reaction

Crombach, G.; Picard, Frauke; Beckmann, Matthias W.; Resident, Boris Tutschek; Bald, Reiner; Niederacher, Dieter

doi:10.1111/j.1471-0528.1997.tb10641.x

Cited by 8 publications

(3 citation statements)

References 22 publications

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“…Indeed, fetal RHD genotype determination early during pregnancy is useful in the management of sensitized RhD‐negative pregnant women. Fetal RHD status can be ascertained after chorionic villus sampling (CVS) or amniocentesis (Fisk et al , 1994; Crombach et al , 1997, 1999; Chan et al , 2001). However, these sampling procedures are invasive, resulting both in an increased risk of fetal loss and in an increased severity of immunization due to fetomaternal haemorrhage (Urbaniak, 1998).…”

mentioning

confidence: 99%

FetalRHDgenotyping in maternal serum during the first trimester of pregnancy

Costa

Giovangrandi²,

Ernault

et al. 2002

Br J Haematol

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Summary. Fetal RHD genotype determination is useful in the management of sensitized RhD-negative pregnant women. It can be ascertained early during pregnancy by chorionic villus sampling (CVS) or amniocentesis. However, these procedures are invasive, resulting both in an increased risk of fetal loss and in an increased severity of immunization due to fetomaternal haemorrhage. A reliable determination of RHD genotype by fetal DNA analysis in maternal serum during the first trimester of pregnancy is reported in this study. One hundred and six sera from RhDnegative pregnant women were obtained during the first trimester of pregnancy. These sera were tested for the presence of RHD gene using a new real-time polymerase chain reaction assay and the results compared with those obtained later in pregnancy on amniotic fluid cells and by RHD serology of the new-born. All sera from women carrying a RhD-positive fetus (n ¼ 62) gave positive results for RHD gene detection and sera from women carrying a RhDnegative fetus (n ¼ 40) were negative. The high level of accuracy of fetal RHD genotyping obtained in this study could enable this technique to be offered on a routine basis for the management of RhD-negative patients during the first trimester of pregnancy.

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mentioning

confidence: 99%

FetalRHDgenotyping in maternal serum during the first trimester of pregnancy

Costa

Giovangrandi²,

Ernault

et al. 2002

Br J Haematol

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“…We included only women with pregnancies perceived to be at increased risk of fetal anaemia, either because of significantly progressively rising maternal antibodies' levels or titers, or because they had previous pregnancies complicated by significant fetal or neonatal anaemia. In all cases positive fetal genotyping for the sensitising blood group was confirmed, either by free fetal DNA in maternal blood [8] or by early amniocentesis [9].…”

Section: Methodsmentioning

confidence: 99%

Reassuring Fetal Middle Cerebral Artery Doppler Velocimetry in Alloimmunised Pregnancies: Neonatal Outcomes without Invasive Procedures

et al. 2005

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Objective: To assess the neonatal outcome in red blood cell alloimmunised pregnancies at increased risk of fetal anaemia where invasive testing was avoided based on reassuring middle cerebral artery (MCA) Doppler velocity results. Methods: We included 28 alloimmunised pregnant women at significant risk of fetal or neonatal anaemia who did not have invasive testing because of reassuring MCA Doppler velocimetry. Women requiring invasive testing or intrauterine transfusion were excluded. Outcome measures were admission to neonatal intensive care unit, cord haemoglobin and bilirubin levels and neonatal therapy. Results: Ten neonates (36%) were anaemic at birth while 18 (64%) had normal haemoglobin. Seven neonates (25%) did not require any form of neonatal therapy, 10 (36%) had phototherapy only, 7 (25%) required exchange transfusions and 4 (14%) top-up transfusions. There were no treatment-related complications. Mean cord haemoglobin was 13.9 g/dl (range 7–18.9) and mean bilirubin was 84.1 µmol/l (range 29–192). Conclusion: Avoiding invasive procedures in pregnancies at risk of fetal anaemia by relying on reassuring MCA Doppler velocimetry did not result in life-threatening fetal or neonatal morbidities. The extent of neonatal therapy was acceptable. The routine use of this test can lead to less unnecessary invasive procedures in at-risk fetuses.

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“…Therefore, the health service is unnecessary for those cases. IPD for identification of fetal RhD status, with the aim of managing RhD-negative pregnant women, might lead to miscarriage and immunization [64][65][66]. The NIPD of the fetal RhD status using cff-DNA in maternal blood by real-time PCR is well established and already offered as a clinical service in a number of countries [67].…”

Section: Maldi-tof In Nipd Of Fetal Blood Group Genotypingmentioning

confidence: 99%

MALDI-TOF MS in Prenatal Genomics

Zhong¹,

Holzgreve

2009

Transfus Med Hemother

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Prenatal diagnosis aims either to provide the reassurance to the couples at risk of having an affected child by timely appropriate therapy or to give the parents a chance to decide the fate of the unborn babies with health problems. Invasive prenatal diagnosis (IPD) is accurate, however, carrying a risk of miscarriage. Noninvasive prenatal diagnosis (NIPD) has been developed based on the existing of fetal genetic materials in maternal circulation; however, a minority fetal DNA in majority maternal background DNA hinders the detections of fetal traits. Different protocols and assays, such as homogenous MassEXTEND (hME), single allele base extension reaction (SABER), precise measuring copy number variation of each allele, and quantitative methylation and expression analysis using the high-throughput sensitive matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS), allow NIPD for single gene disorders, fetal blood group genotyping and fetal aneuploidies as well as the development of fetal gender-independent biomarkers in maternal circulation for management of pathological pregnancies. In this review, we summarise the use of MALDI-TOF MS in prenatal genomics.

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Fetal Rhesus D genotyping on amniocytes in alloimmunised pregnancies using fluorescence duplex polymerase chain reaction

Cited by 8 publications

References 22 publications

FetalRHDgenotyping in maternal serum during the first trimester of pregnancy

FetalRHDgenotyping in maternal serum during the first trimester of pregnancy

Reassuring Fetal Middle Cerebral Artery Doppler Velocimetry in Alloimmunised Pregnancies: Neonatal Outcomes without Invasive Procedures

MALDI-TOF MS in Prenatal Genomics

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