Fetal Diagnosis

Abstract

Prenatal diagnosis is concerned mainly with the detection of fetal chromosomal aberrations, single gene disorders and malformations of different aetiologies. Current methods for the retrieval of fetal material for the genetic analysis rely on invasive practices (amniocentesis, chorionic villus biopsy) that are associated with a risk of fetal loss. Recently, progress has been made in developing noninvasive alternatives by quantitatively and qualitatively analysing fetal cells or cell‐free fetal deoxyribonucleic acid (DNA) out of maternal blood or maternal plasma, respectively. Also the preimplantation genetic diagnosis benefits from these technical advancements.

Keywords: prenatal diagnosis; noninvasive prenatal diagnosis; erythroblasts; cell‐free deoxyribonucleic acid (DNA); preimplantation diagnosis

Figure 1.

Giemsa‐stained metaphase chromosomes show the characteristic black–white banding pattern which allows unique identification of each chromosome.

Figure 2.

Application of a 24 colour FISH probe cocktail on metaphase chromosomes. Each chromosome is unambiguously identifiable by a distinct fluorochrome combination, and sorted accordingly within the karyogram.

Figure 3.

Erythroblasts as fetal target cells for noninvasive prenatal diagnosis from maternal blood. (a) Erythroblast stained with May–Grünwald; (b) erythroblast stained with a fluorescently labelled antibody against the surface antigen Glycophorin A; (c) fluorescence in situ hybridization on a male fetal erythroblast. The green signal represents the X‐chromosome whereas the red signal represents the Y‐chromosome.

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References

Hahn S, Huppertz B and Holzgreve W (2005) Fetal cells and cell free fetal nucleic acids on maternal blood: new tools to study abnormal placentation. Placenta 26: 515–526.

Huang DJ, Nelson MR, Zimmermann B et al. (2006a) Reliable detection of trisomy 21 using MALDI‐TOF mass spectrometry. Genetics in Medicine 8: 728–734.

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Further Reading

Brambati B and Tului L (2005) Chorionic villus sampling and amniocentesis. Current Opinions in Obstetrics and Gynecology 17: 197–201.

Hahn S and Jackson L (eds) (2007) Methods in Molecular Medicine: Prenatal Diagnosis, 1st edn, Totowa, New Jersey: Humana Press (submitted).

Kuliev A and Verlinsky Y (2005) Place of preimplantation diagnosis in genetic practice. American Journal of Medical Genetics 134: 105–110.

Macek M Sr, Bianchi DW and Cuckle H (eds) (2001) Early Prenatal Diagnosis, Fetal Cells and DNA in the Mother, 1st edn, pp. 3–348. Prague: Charles University, the Karolinum Press.

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How to Cite close
Holzgreve, Wolfgang, Mergenthaler‐Gatfield, Susanne, and Hahn, Sinuhe(Jul 2007) Fetal Diagnosis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005569.pub2]