Department Introduction

Established in 2011, Reproductive Genetics Department in Women’s Hospital School of Medicine Zhejiang University is a broad-based clinical, investigative, and educational department with a faculty of more than twenty. The mission of the department is to provide excellent, comprehensive care to families with known genetic or suspected genetic disorders, and to lower birth defects from the source. The department offers a variety of clinical services including clinical evaluation, risk assessment, genetic counseling, and genetic testing for high-risk families associated with recurrent pregnancy loss, congenital malformations, intellectual disability and/or, a variety of genetic disorders, and provides comprehensive prenatal screening, prenatal diagnostic, pre-implantation genetic screening and diagnosis (PGS/PGD) programs. When appropriate, we conduct research which may reveal the genetic cause of the specific disease so thatpatients can understand their condition better. The department is a leader of reproductive genetics in Zhejiang Province and is nationally renowned.

Our comprehensive clinical services include:

• Genetic counseling is dedicated to providing the assessment and counseling of genetic disorders as well as reproductive health, pre-conceptional and prenatal counseling.
• Genetic screening and diagnosis offers genetic testing and family-based study for at-risk families associated with complex disorders including hearing loss, genetic metabolic disease, Duchenne muscular dystrophy (DMD), Hemophilia A and B, Wilson disease, autism, intellectual disability, and a wide variety of rare genetic disorders.
• Prenatal screening and diagnosis provides non-invasive prenatal screening for trisomy 13, 18 and 21 by using peripheral blood samples, and cytogenetic and molecular studies of chromosomal abnormalities and genetic disorders by using amniotic fluid, chorionic villi samples.
• Pre-implantation genetic screening and diagnosis (PGS/PGD) provides advanced genetic analysis of embryos conceived with IVF to avoid transmission of serious genetic disease sand chromosomal abnormalities to a child.

Reproductive Genetics Department is one of the earliest departments that carry out NIPS nationwide, and it undertakes the pilot project of NIPS and PGD. We offer a one-stop service from the diagnosis of genetic disorders to prenatal diagnosis and PGD. We provide genetic services for about 130 families with genetic diseases each year and prenatal diagnosisfor around 300 families with more than 20 disorders. In support of the clinical program are several technology platforms. Non-invasive prenatal screening (NIPS), cytogenetic techniques, fluorescence in situ hybridization (FISH), comparative genomic hybridization and single nucleotide polymorphism (CGH/SNP) array are applied to detect chromosomal abnormalities such as abnormal chromosome numbers, structural chromosomal aberrations, micro-deletion/micro-duplication syndromes and copy number variation (CNV). Molecular technologies such as next-generation sequencing (NGS), Sanger sequencing, MLPA and RT-PCR are used for the detection of single-gene disorders.

1.Program

2.The Number of Students &Trainee

The Department of Reproductive Genetics offers training in all aspects of clinical and laboratory genetics. Training Base

• Key Laboratory of Reproductive Genetics, Ministry of Education, China
• Prenatal Diagnosis Center of Zhejiang Province
• Reproductive Medical Center of Zhejiang Province

Research within the department encompasses a number of important topics including:

• Basic and application research of mutation profile of Mendelian disease involving new disease-causing genes and mutations identification, gene functional study, disease pathophysiology study and so on.
• Development of high-level diagnostic technology platform systems for genetic diagnosis, prenatal diagnosis and PGD of chromosomal diseases and monogenic diseases.
• Establishment of a family collection and management database for human genetic diseases.

Clinic area：Room 508, 5th floor, No. 1 Building

Phone: (0571) 89991860