Fetal Diagnosis


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.



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.

Huang DJ, Zimmermann BG, Holzgreve W and Hahn S (2006b) Improvement of methods for the isolation of cell‐free fetal DNA from maternal plasma: comparison of a manual and an automated method. Annals of the New York Academy of Sciences 1075: 308–312.

Lo YM (2005) Recent advances in fetal nucleic acids in maternal plasma. The Journal of Histochemistry and Cyto chemistry 53(3): 293–296.

Lo YM (2006) Fetal DNA in maternal plasma: progress through epigenetics. Annals of the New York Academy of Sciences 1075: 74–80.

Li Y, Wenzel F, Holzgreve W and Hahn S (2006) Genotyping fetal paternally inherited SNPs by MALDI‐TOF using cell‐free fetal DNA from maternal plasma: influence of size fractionation. Electrophoresis 27: 33889–33896.

Tröger C, Zhong XY, Burgemeister R et al. (1999) Approximately half of the erythroblasts in maternal blood are of fetal origin. Molecular Human Reproduction 5: 1162–1165.

Verlinsky Y, Ochen J, Munne S et al. (2004) Over a decade of experience with preimplantation genetic diagnosis: a multicentre report. Fertility and Sterility 82: 292–294.

Wong BC, Chiu RW, Tsui NB et al. (2005) Circulating placental RNA in maternal plasma is associated with a preponderance of 5′ mRNA fragments: implications for noninvasive prenatal diagnosis and monitoring. Clinical Chemistry 51: 1786–1795.

Zimmermann B, El‐Sheikhah A, Nicolaides K, Holzgreve W and Hahn S (2006) Optimized real‐time quantitative PCR measurement of male fetal DNA in maternal plasma. Annals of the New York Academy of Sciences 1075: 347–349.

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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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]