prenatal diagnosis


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pre·na·tal di·ag·no·sis

diagnosis using procedures available for the recognition of diseases and malformations in utero, and the conclusion reached.
Synonym(s): antenatal diagnosis

prenatal diagnosis

any of various diagnostic techniques to determine whether a developing fetus is affected with a genetic disorder or other abnormality. Such procedures as radiographic examination and ultrasound scanning can be used to follow fetal growth and detect structural abnormalities; amniocentesis enables fetal cells to be obtained from the amniotic fluid for culture and biochemical assay for detection of metabolic disorders and chromosomal analysis; fetoscopy enables fetal blood to be withdrawn from a blood vessel of the placenta and examined for disorders such as thalassemia, sickle cell anemia, and Duchenne's muscular dystrophy. If any of the test results are positive and the child is likely to be born with a severe defect or disease, the parents need support and advice from genetic counselors on whether to terminate the pregnancy. If the parents decide to have the baby, the nurse can help educate them about the specific disorder and prepare them for the special care required of a handicapped or genetically defective child. Also called antenatal diagnosis. See also chorionic villus sampling, genetic counseling, genetic screening.

prenatal diagnosis

Obstetrics The examination of fetal cells taken from the amniotic fluid, the primitive placenta–chorion, or umbilical cord for biochemical, chromosomal, or gene defects

pre·na·tal di·ag·no·sis

(prē-nā'tăl dī'ăg-nō'sis)
Diagnosis using procedures available for the recognition of diseases and malformations in utero, and the conclusion reached.

Prenatal diagnosis

The determination of whether a fetus possesses a disease or disorder while it is still in the womb.
References in periodicals archive ?
A major revolution was brought by polymerase chain reaction (PCR) technology that allowed the identification of easier mutation detection, as well as the expansion of pre-implantation genetic diagnosis (PGD) and non-invasive prenatal diagnosis procedures.
Results of prenatal diagnosis of UCEA by means of CDUS and results of pathological diagnosis were compared and analyzed.
Winsor, MPA, is Cofounder of Be Not Afraid, a private non-profit corporation whose mission is to provide comprehensive, practical, and peer-based support to parents experiencing a prenatal diagnosis and carrying to term.
Fathers who received a prenatal diagnosis experienced more distress if medical providers could not fully answer questions.
Regional and ethnic distribution of AY-thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis.
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.
The primary aim of a prenatal diagnosis is to provide an accurate diagnosis that will allow the widest possible range of informed choice to those at increased risk of having children with genetic disorders or with congenital abnormalities (3).
Kan's laboratory in the United States and had created a new method for the identification of mutations in the beta-globin gene with usage for prenatal diagnosis (1).
From microscopic chromosome observation in karyotyping to array-CGH in prenatal diagnosis
Here, we present a case of a penoscrotal hypospadia mimicking female genitalia and describe our experience of applying two-dimensional and three-dimensional US in the prenatal diagnosis of hypospadia.