By Joyce C Harper; Joy D A Delhanty; Alan H Handyside

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Preimplantation Genetic Diagnosis. C. A. H. Handyside Copyright © 2001 John Wiley & Sons, Ltd ISBNs: 0-471-98500-7 (Hardback); 0-470-84661-5 (Electronic) 3 Prenatal Diagnosis INTRODUCTION Preimplantation genetic diagnosis (PGD) is considered as an alternative to prenatal diagnosis (see Chapter 8). Patients referred for PGD may have previously undergoneaninvasiveprenataldiagnosisprocedureandterminatedanaffectedpregnancy (see Chapter on Clinical Aspects of PGD). After PGDis itcommon to advise patients to undergo prenatal diagnosis to confirm that the pregnancy is normal.

2 Cystic fibrosis family pedigree illustrating the typical inheritance of an autosomal recessive gene defect. (a) In this family the common cystic fibrosis (CF) mutation AF508 is passed throughhealthycarriers in thegrandparents'andparents'generationstothe grandchildren. one of which is affected by the disease. (b) In this case the father carries the AF508 mutation whilst the mother carries a different, much rarer mutation of the CF gene. The child affected by cystic fibrosis who has inherited both defective copies is essentially a carrier of each mutation and is termed a compound heterozygote GENETIC BASIS OF INHERITED 17 DISEASE disorders are not so severe or life-threatening as recessive disorders.

Dimavicis J & Green J (1998) Grief after termination for fetal abnormality-- is there a gestational effect? D’/trasounti OhslcJf G)~ec,o/ 12: PLl(Abstract). Corteville JE, Dicke JM & Crane JP (1992) Fetal pyelectasis and Down syndrome: Is genetic amniocentesis warranted? Ohsret Gywcol 79: 770-772. Cullen MT. Green JJ, ReeceEA & Hobbins JC (1989)Evaluationof the firsttrimester embryo. A comparison of transvaginal and abdominal sonography. J b’ltrusolrtzrl Meci 8: 565-569. Cullen MT, Green J, Whetham J.

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