Advanced maternal age as an genetic diagnosis (PGD) - the indication for preimplantation need for more judicious application in clinically assisted reproduction

作者：Heng Boon Chin^*

来源：Prenatal Diagnosis, 2006, 26(11): 1051-1053.

DOI：10.1002/pd.1553

• aneuploidy
• birth defects
• chromosomal anomalies
• maternal age
• PGD

Background Pre-implantation genetic diagnosis (PGD) is often recommended for routine screening of chromosomal aneuploidy in older women undergoing clinical assisted reproduction, even though its prognostic value on this croup of patients is rather ambiguous. What is needed is a clear set of ethical guidelines in the marketing of this technically complex and expensive procedure to patients who are neither suffers nor carriers of serious genetic diseases.
Methods Professional counseling would be required to enable an informed decision from the patient. Differences in the prognostic value of PGD for different medical indications must be clearly presented to the patient and they must also be told that PGD is not a completely `fool-proof' means of preventing birth defects. What may be detected are some genetic syndromes and conditions associated with cytogenetic abnormalities.
Results The patient must be made aware that the results of previous studies have demonstrated that the overwhelming majority of chromosomally abnormal oocytes and embryos either fail to fertilize or implant, and therefore have a relatively low chance of resulting in a live birth with chromosomal defects. Statistical data, particularly the concept of relative risk must clearly be presented to the patient without exaggerating the risk of birth defects. The patient must also be rightfully informed that PGD carries a small risk of damaging the embryo, which could compromise chances of conception.
Conclusions PGD should be judiciously indicated for advanced maternal age in clinically assisted reproduction. Other diagnostic options that may be cheaper, and which also posses a high level of accuracy should be presented first to the patient i.e. amniocentesis, chorionic villus biopsy and ultrasonargraphy.

• 出版日期2006-11