Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: Report of 66 cases

Prenatal diagnosis is an important means of early diagnosis of genetic diseases, which can effectively reduce the risk of birth defects. Free fetal cells, as a carrier of intact fetal genetic material, provide hope for the development of high-sensitivity and high-accuracy prenatal diagnosis technology. However, the number of fetal cells is small and it is difficult to apply clinically. In recent years, noninvasive prenatal diagnosis (NIPD) technology for fetal genetic material in maternal peripheral blood has developed rapidly, which makes it possible to diagnose genetic diseases by fetal cells in maternal peripheral blood. This article reviewed the current status of fetal cell separation and enrichment technology and its application in noninvasive prenatal diagnosis technology.

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Non-invasive approach to prenatal diagnosis from maternal peripheral blood

Prenatal Diagnosis ◽

10.1002/pd.1970120613 ◽

1992 ◽

Vol 12 (6) ◽

pp. 547-548 ◽

Cited By ~ 1

Author(s):

Y.-M. D. Lo ◽

J. S. Wainscoat ◽

K. A. Fleming

Keyword(s):

Prenatal Diagnosis ◽

Peripheral Blood ◽

Invasive Approach ◽

Non Invasive ◽

Maternal Peripheral Blood

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Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood

Blood ◽

10.1182/blood.v75.11.2102.bloodjournal75112102 ◽

1990 ◽

Vol 75 (11) ◽

pp. 2102-2106

Author(s):

C Camaschella ◽

A Alfarano ◽

E Gottardi ◽

M Travi ◽

P Primignani ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Fetal Hemoglobin ◽

Maternal Blood ◽

Beta Thalassemia ◽

Chain Reaction ◽

Fetal Cells ◽

Maternal Peripheral Blood ◽

Polymerase Chain ◽

Traditional Approaches ◽

First Time

Molecular diagnosis of hemoglobin (Hb) Lepore-Boston in the fetus was successfully accomplished using maternal blood as a source for fetal cells in three pregnancies at risk for beta-thalassemia/Hb Lepore disease. Taking advantage of the possibility of amplifying Lepore- specific DNA fragments by polymerase chain reaction and of families in which Hb Lepore was inherited by the paternal side, we demonstrated in two cases and excluded in one case the presence of this hemoglobinopathy in the fetus directly on maternal DNA. The diagnosis was concordant with that obtained by traditional approaches in all three cases. Our results unequivocally show that nucleated fetal cells are present in maternal blood during pregnancy, and demonstrate for the first time that prenatal diagnosis of a genetic disease may be feasible without invasive procedures.

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The Application of Magnetic Cell Sorter (MACS) to Detect Fetal Cells in Maternal Peripheral Blood

Journal of Obstetrics and Gynaecology Research ◽

10.1111/j.1447-0756.2001.tb01240.x ◽

2001 ◽

Vol 27 (3) ◽

pp. 155-162 ◽

Cited By ~ 2

Author(s):

Akimune Fukushima ◽

Yukari Utsugisawa ◽

Yuko Wada ◽

Noriko Mizusawa ◽

Saburo Horiuchi ◽

...

Keyword(s):

Peripheral Blood ◽

Cell Sorter ◽

Fetal Cells ◽

Maternal Peripheral Blood

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Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood

Human Genetics ◽

10.1007/bf00220460 ◽

1992 ◽

Vol 90 (4) ◽

Cited By ~ 93

Author(s):

DianaW. Bianchi ◽

Anna Mahr ◽

GretchenK. Zickwolf ◽

TimothyW. Houseal ◽

AlanF. Flint ◽

...

Keyword(s):

Peripheral Blood ◽

Fetal Cells ◽

Maternal Peripheral Blood

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Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Diagnostics ◽

10.3390/diagnostics11122239 ◽

2021 ◽

Vol 11 (12) ◽

pp. 2239

Author(s):

Giulia Sabbatinelli ◽

Donatella Fantasia ◽

Chiara Palka ◽

Elisena Morizio ◽

Melissa Alfonsi ◽

...

Keyword(s):

Prenatal Diagnosis ◽

High Efficiency ◽

Diagnostic Testing ◽

Genetic Research ◽

Clinical Genetics ◽

Maternal Circulation ◽

Fetal Cells ◽

Non Invasive ◽

Prenatal Diagnostic ◽

Maternal Peripheral Blood

Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy.

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