Good news from Department of Reproductive Medicine of RenJi Hospital, School of Medicine, Shanghai Jiao Tong University: Shanghai's first monogenic screening of spinal muscular atrophyis eligible to clinical pregnancy via the third-generation test-tube technique (PGD). Prenataldiagnosis confirmed the successful blockadeagainst the monogenic inheritance ofthe disease. The pregnancy has been currently up to 18 weeks. This marks that reproductive medicineof RenJihasattained world’s leading levelof diagnosis and treatment.
Spinal muscular atrophy (SMA) is a class of disease featured by muscle weakness and atrophy caused by degeneration of spinal motoneurons and brainstem motor nuclei. Symptoms include progressive, symmetry and extended flaccid paralysis and muscle atrophy, mainly involved proximal limb. It is an autosomal recessive genetic disease and is not rare in clinic. So far there is no specific effective treatment for SMA. The majority die of respiratory failure in childhood.
The department admitted a couple who were both carriers of SMA. The couple havealready given birth to a 5-year-old childwith SMA who was still unable to normally stand and walk up to now. The couple hopedto have a healthy baby throughPGD. Human carries more than 30,000 pairs of genes. Patients with SMA have mutant allele of a single gene locus on chromosome 5, which means that doctors need to screen out one pathogenic gene from more than 30,000 pairs. Doctors of RenJi Hospital eventually obtained five embryos through ovulation induction, intracytoplasmic sperm injection (ICSI) and embryo culture. After detected by technicianof genetics, there was one normal embryo out of the five. The embryo was successfully transplanted into the mother's womb in February 2015 and was eligible for pregnancy. Recent amniocentesis confirmed the successful blockade of the monogenetic inheritance of SMA. Now the baby is 18 weeks.
It is reported that Shanghai RenJi Hospital is one of the earliest to develop reproductive technology. In1987,Renji first offeredartificial insemination service in Shanghai.Through constant innovation and flourish development, RenJi Hospital has established a set of scientific and advanced system of both basic research and clinical treatment of infertility. All kinds of complicated cases can receive the best treatment in RenJi. The hospital also provides the most appropriate individualized treatment to achieve highest success rate. Moreover, in recent years, via integratingpowerful departments such as andrology, obstetric follow-up treatment and integrative medicine, RenJihas become one of the best hospitals that can providethe most fully-featured reproductive techniques with largest volume, best environmentand highest success rate.Annual outpatient volume of Department of Reproduction is 190,000, with nearly 10,000 cycles of assisted reproductive technologyper year.Nearly 10,000 test-tube babies were born. (Reporter Xiaomin Zhao, Translator Yujun Sun)