Isolation of fetal DNA from nucleated erythrocytes in maternal blood

Journal Article · Tue May 01 00:00:00 EDT 1990 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.87.9.3279· OSTI ID:5267110

Bianchi, D W; Knoll, J H.M. ^[1]; Flint, A F ^[2]; Pizzimenti, M F ^[3]; Latt, S A ^[1]

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1. Children's Hospital, Boston, MA (USA) Harvard Medical School, Boston, MA (USA)
2. Howard Hughes Medical Institute, Boston, MA (USA)
3. Brigham and Women's Hospital, Boston, MA (USA)

Fetal nucleated cells within maternal blood represent a potential source of fetal genes obtainable by venipuncture. The authors used monoclonal antibody against the transferrin receptor (TIR) to identify nucleated erythrocytes in the peripheral blood of pregnant women. Candidate fetal cells from 19 pregnancies were isolated by flow sorting at 12 1/2-17 weeks gestation. The DNA in these cells was amplified for a 222-base-pair (bp) sequence present on the short arm of the Y chromosome as proof that the cells were derived from the fetus. The amplified DNA was compared with standardized DNA concentrations. In the case of the female fetus, DNA prepared from samples at 32 weeks of gestation and cord blood at delivery also showed the presence of the Y chromosomal sequence, suggesting Y sequence mosaicism or translocation. In 10/12 cases where the 222-bp band was absent, the fetuses were female. Thus, they were successful in detecting the Y chromosomal sequence in 75% of the male-bearing pregnancies, demonstrating that it is possible to isolate fetal gene sequences from cells in maternal blood. Further refinement in methodology should increase sensitivity and facilitate noninvasive screening for fetal gene mutations.

• OSTI ID: 5267110
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 87:9; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

62 RADIOLOGY AND NUCLEAR MEDICINE
FETUSES
HUMAN Y CHROMOSOME
AUTORADIOGRAPHY
BIOASSAY
PREGNANCY
BLOOD CHEMISTRY
BONE MARROW CELLS
ERYTHROCYTES
GENE AMPLIFICATION
MONOCLONAL ANTIBODIES
PHOSPHORUS 32
ANIMAL CELLS
ANTIBODIES
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOCHEMISTRY
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CHEMISTRY
CHROMOSOMES
CONNECTIVE TISSUE CELLS
DAYS LIVING RADIOISOTOPES
HETEROCHROMOSOMES
ISOTOPES
LIGHT NUCLEI
MATERIALS
NUCLEI
ODD-ODD NUCLEI
PHOSPHORUS ISOTOPES
RADIOISOTOPES
SOMATIC CELLS
Y CHROMOSOME
550601* - Medicine- Unsealed Radionuclides in Diagnostics