Preimplantation genetic diagnosis for monogenic diseases

• Published in: Best practice & research. Clinical obstetrics & gynaecology Vol. 44; pp. 68 - 75
• Main Authors: Lee, Vivian Chi Yan, MD, Chow, Judy F.C., MPhil, Yeung, William Shu Biu, PhD, Prof, Ho, Pak Chung, MD, Prof
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01-10-2017
• Subjects: Female; Fertilization in Vitro; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - prevention & control; Humans; Male; monogenic diseases; next-generation sequencing (NGS); Obstetrics and Gynecology; Parents - psychology; Polymerase Chain Reaction; polymerase chain reaction (PCR); Pregnancy; Preimplantation Diagnosis - ethics; Preimplantation Diagnosis - methods; Preimplantation Diagnosis - trends; preimplantation genetic diagnosis (PGD); Risk Factors; Whole Exome Sequencing; polymerase chain reaction (PCR); next-generation sequencing (NGS); preimplantation genetic diagnosis (PGD); monogenic diseases
• ISSN: 1521-6934; 1532-1932
• DOI: 10.1016/j.bpobgyn.2017.04.001

Preimplantation genetic diagnosis (PGD) was first reported in 1990. Thereafter, more and more indications for PGD, including monogenic diseases (MGD) and translocations, are presently available, and the list of indications of PGD is expanding from early-onset and serious conditions to late-onset diseases. Polymerase chain reaction has been used for PGD of MGD, while newer techniques, including karyomapping and next-generation sequencing, emerge in recent decade. The limitations of various methods for PGD are discussed in this review.