Current status of preimplantation genetic diagnosis in Japan

Abstract

This is a retrospective study aimingto clarify the current status of preimplantation genetic diagnosis (PGD) in Japan. Our data were collected from 12 facilities between September 2004 and September 2012, and entered into a database. A majority of PGD in Japan was performed for balanced structural chromosomal abnormalities in couples with recurrent miscarriage. PGD for monogenic diseases was performed only in two facilities. The average maternal age was 38 years for monogenic diseases and 40 years for chromosomal abnormalities. Overall there have been671 cycles to oocyte retrieval reported. Of these cycles, 85% (572 cycles)were for chromosomal abnormalities, and 15% (99 cycles) for monogenic diseases. Diagnosis rates in the current study were 70.8% for monogenic diseases and 94.0% for chromosomal abnormalities. Rates of embryo transfer of PGD were 62.7% for monogenic diseases and 25.5% for chromosomal abnormalities. Clinical pregnancy rates per embryo transfer were 12.0% for monogenic diseases and 35.6% for chromosomal abnormalities. Our study is the first PGD report from all facilities which had the approval of the ethics committee of the Japanese Society of Obstetrics and Gynecology. We have built a basis for gathering continuous PGD data in Japan.

Effect of semen quality on human sex ratio in in vitro fertilization and intracytoplasmic sperm injection: an analysis of 27,158 singleton infants born after fresh single-embryo transfer

“…Meanwhile, preimplantation genetic diagnosis (PGD) for specific genetic disorders or recurrent miscarriages due to parental balanced structural chromosomal abnormalities is only allowed after the approval of the institutional review board at each facility and the board of ethics at the JSOG. Between September 2004 and September 2012, there were 671 cycles of oocyte retrieval with PGD in Japan, from which 65 singleton babies were born (33). For this study, data from 2007 to 2012 were used because the Japanese ART registry database was established as an online registration system from 2007 by the JSOG.…”

The risk of secondary sex ratio imbalance and increased monozygotic twinning after blastocyst transfer: data from the Japan Environment and Children’s Study

“…Furthermore, since 2008, the single embryo transfer (SET) policy introduced by the Japan Society of Obstetrics and Gynecology has significantly decreased the multiple pregnancy rate [13]. In addition, BT facilitates preimplantation genetic testing (PGT) [14]. However, there remain concerns about BT and its adverse effects with regard to higher SSR and increased incidence of monozygotic twinning (MZT).…”

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

“…Prenatal diagnosis for mtDNA-related mitochondrial diseases is prevalent in several countries [8][9][10] . Furthermore, preimplantation genetic testing for Leigh syndrome caused by mtDNA mutation has been reported in Japan 21 . However, recent studies indicated that prenatal samples provide an accurate prediction of mtDNA mutation load in the postnatal period 22 .…”