I. Department Introduction

Established in 2002, the CITIC Xiangya Genetics Center was formerly the Human Reproductive Engineering Laboratory of Xiangya School of Medicine, Central South University. It was founded by Professor Lu Huilin, a renowned pioneer in medical genetics in China. Currently, it serves as the National Health Commission's Preimplantation Genetic Diagnosis Training Center, a provincial-level prenatal diagnosis medical service institution in Hunan Province, an institution for high-throughput gene sequencing prenatal screening and diagnosis, and a doctoral and master's degree authorization point and postdoctoral research station for medical genetics at Central South University.

Team

1. It has an independent genetic counseling clinic and a genetic nursing team, including 7 full-time clinical genetic counselors, 4 full-time genetic counselors, and 12 genetic nurses;

2. The genetic testing center has 40 professional technicians engaged in gene testing, chromosome testing, and prenatal diagnosis. Among them, 6 are senior professionals, 6 are doctoral degree holders, 18 have master's degrees, and 5 are graduate tutors.

Scale

1. More than 15,000 people receive genetic counseling consultations annually;

2. As of October 2024, a total of 562,000 chromosome tests, 10,015 prenatal chromosome diagnoses, 129,380 single-gene tests, 2,726 single-gene prenatal diagnoses, and 35,318 preimplantation tests have been completed. 13,756 healthy babies have been born through PGT, 19,432 miscarried embryos have undergone genetic testing, and 10,119 paternity tests have been conducted. Genetic tumor clinic consultations, gene testing, prenatal diagnosis, and preimplantation genetic diagnosis have been conducted for 4,427 families, with 90 'cancer-free babies' successfully born; through PGT combined with HLA matching technology, preimplantation single-gene disease testing combined with HLA matching IVF assisted reproductive treatment has been provided for 29 families with rare and serious diseases, and 18 healthy 'angel babies' have been successfully born.

II. Technological Features

1. Prenatal Diagnosis:

Gene diagnosis for 1064 rare diseases has been conducted, including 312 diseases that can be diagnosed prenatally with amniotic fluid, and 778 diseases (involving 732 genes) have undergone preimplantation genetic testing;

It pioneered the establishment and widespread application of blastocyst biopsy technology, effectively reducing the impact of biopsy on embryonic developmental potential and improving diagnostic reliability;

A PGT detection platform based on next-generation sequencing technology has been developed, and in 2015, the birth of test-tube babies and "cancer-free babies" through whole-genome sequencing was achieved;

A proprietary MiceoSeq technology has been developed, solving the worldwide problem of detecting balanced translocation carrier embryos. In 2016, a healthy baby was born after chromosome translocation was ruled out using MicroSeq technology;

The PGT achievements were reported in the top international journal Nature in 2017, under the title "China’s push for better babies";

In 2018, a test-tube baby with successful β-thalassemia PGD + HLA matching was born.

2. Reproductive Intervention Technology for Hereditary Tumor Diseases:

Genetic tumor clinic consultations have been conducted for a cumulative total of 4,427 families, with genetic counseling, gene testing, prenatal diagnosis, and preimplantation genetic diagnosis conducted for 55 types of hereditary tumors, resulting in the successful birth of 90 "cancer-free babies".

3. PGT combined with HLA matching technology:

In collaboration with the National Engineering Research Center for Human Stem Cells, through PGT combined with HLA matching technology, preimplantation single-gene disease testing combined with HLA matching IVF assisted reproductive treatment has been provided for 29 families with 11 types of rare and serious diseases, including β-thalassemia, α-thalassemia, mucopolysaccharidosis, Gaucher disease, and type II congenital dyserythropoietic anemia, resulting in the successful birth of 18 healthy "angel babies," with another "angel baby" currently in gestation. Three families have used the umbilical cord blood of their "angel babies" to complete hematopoietic stem cell transplantation treatment for affected siblings.

III. Management Features

In 2018, it passed the ISO9001:2015 version quality management system certification, becoming one of the few genetic testing centers in China to pass ISO9001:2015;

In 2017, the forensic science laboratory passed the review of the China National Accreditation Service for Conformity Assessment (CNAS) and the China National Accreditation Committee (CMA) and obtained the accreditation certificate.

IV. Innovation and Achievements: Industry-Academia-Research

The Genetics Center has undertaken national major basic research projects (973), National Natural Science Foundation projects, Ministry of Health key projects, and Hunan Provincial Natural Science Foundation projects, with funding exceeding 10 million yuan. It also undertakes teaching tasks for graduate courses at Central South University, including Clinical Genetics, Male Reproductive Genetics, and Developmental Biology. Since 2001, it has trained 93 medical genetics master's degree students, 37 doctoral degree students, and 2 postdoctoral fellows, and has received more than 100 clinical genetics trainees from across the country.

Clinical service projects conducted by the Genetics Center include (some projects accept samples from external hospitals, Tel: (0731-82355301)

1. Genetic Counseling and Diagnosis

2. Single-gene disease gene testing

3. Peripheral blood chromosome examination

4. Analysis of sperm chromosome aneuploidy rate

5. Confirming difficult chromosome structural abnormalities (peripheral blood FISH test)

6. Prenatal chromosome diagnosis

7. Assessment of male reproductive risk of chromosomal abnormalities (sperm FISH test)

8. Rapid diagnosis of prenatal chromosome aneuploidy (uncultured amniotic fluid/cord blood FISH)

9. Preimplantation genetic diagnosis of chromosomal abnormalities (PGT-SR)

10. Preimplantation genetic screening (PGT-A)

11. MicroSeq distinguishes carrier normal embryos

12. Prenatal diagnosis of single-gene diseases

13. Preimplantation genetic diagnosis of single-gene diseases (PGT-M)

14. Non-invasive DNA testing for fetal aneuploidy (including Down syndrome)

15. Genetic analysis of aborted embryos

16. Analysis of chromosomal microdeletions and microduplications

17. Kinship identification

18. Genetic counseling, testing, intervention, and treatment for hereditary cancer risk