Prenatal diagnosis of Hb Bart's hydrops fetalis by PCR technique: Pramongkutklao experience. 1995

K Torcharus, and T Sriphaisal, and T Krutvecho, and A Ketupanya, and C Vuthiwong, and C Suwanasophon, and A Noonai
Department of Pediatrics, Pramongkutklao College of Medicine, Bangkok, Thailand.

Hb Bart's hydrops fetalis is very common in Southeast Asia, especially in Thailand. As the mother of such an infant may suffer from toxemia of pregnancy, ante- or post-partum hemorrhage as well as the psychological burden for carrying a nonviable fetus to term, so prenatal diagnosis is indicated and the family should be given the choice of early termination of the pregnancy. Seven high risk pregnancies with Hb Bart's hydrops fetalis (homozygous alpha-thalassemia 1) were studied. Amniocentesis was done at 16-33 weeks of gestation. DNA analysis was performed by polymerase chain reaction (PCR) using 2 techniques, 1) three nucleotide primers and 2) four nucleotide primers. After either therapeutic abortion or birth, heart blood or cord blood was drawn to confirm the diagnosis by Hb electrophoresis and DNA analysis. Of 7 high risk fetuses, 3 were recognized as Hb Bart's hydrops fetalis, 2 showed the alpha-thal 1 trait, 1 showed alpha-thal 2 trait and 1 was a normal fetus. The technique was entirely suitable for prenatal diagnosis of Hb Bart's hydrops fetalis. This technique was a rapid, simple non-radioactive method, less expensive and available in most PCR laboratories.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002880 Chromosomes, Human, Pair 11 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 11
D002885 Chromosomes, Human, Pair 16 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 16
D005260 Female Females
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes

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