Non-invasive Prenatal Test

In China, prenatal screening for Down syndrome is based on maternal serum screening and ultrasound screening, which could only detect about 90% of  trisomy 21 fetuses with high false-positive rate of about 5%. Karyo typing of fetal cells obtained from either chorionic villus sampling (CVS) or amniocentesis is the gold standard of prenatal diagnosis. However, these invasive procedures may carry miscarriage rates around 0.5% to 1%. The discovery of cell-free fetal DNA (cff-DNA) in maternal peripheral blood brings a new opportunity to non-invasive prenatal detection of fetal chromosomal aneuploidies.

Based on massively parallel sequencing of DNA in maternal plasma, fetal DNA distribution on chromosomes can be recovered and used for fetal chromosomal aneuploidies detection. Theoretically, this method can be applied for all chromosomal aneuploidies detection, and has already been validated in large scale clinical practice on trisomy 21, 18 and 13. Reproductive Health Research focuses on non-invasive prenatal genetic testing techniques, which are under expanding, optimizing and upgrading to cover diverse detecting fields of other chromosomal abnormalities, the second-trimester fetal monogenic/polygenic genetic defects, HLA typing and twin diseases, etc.

Congenital genetic defects

20% to 25% of people suffer from genetic diseases in China, including chromosomal diseases, monogenic disorders, and polygenic diseases. Normal population carries an average of 5 to 6 recessive mutations (carriers), and passes to their offsprings in a certain proportion, thereby leading to birth defects. Hundreds of chromosomal aberrations have been identified to cause diseases, and Online Mendelian Inheritance in Man database (OMIM) has enrolled 21,821 genes related to monogenic disorders, covering about 3780 kinds of diseases with phenotype description and known molecular basis. Most genetic diseases can not be treated effectively yet, and will bring severe economic burden to both society and families.

Reproductive health research has carried out genetic testing to the high incidence of birth defects diseases in recent years, such as congenital heart disease, cleft lip and palate, mental retardation, metabolic disorders, chromosomal abnormalities, and immune deficiency, etc., applying high-throughput sequencing technology to detect the related diseases at chromosome and gene level, through blood, amniotic fluid, tissue and other samples. With the test results, the researchers can establish and update the database about gene mutations and normal frequencies, then find out high incidence and damaging genetic disease genes, and analyze the pathogenic mechanisms involved, which will help to prevent birth defects, and also improve neonatal viability and life quality.


In China, The number of infertile patients (with male or female factors) has exceeded 50 million, and the incidence of recurrent spontaneous abortion (RSA) is also rising year after year. With the development of reproductive medicine, assisted reproductive technology (ART) has become one of the most important approaches for infertility treatment. BGI Research has a focus on the scientific research for reproductive medicine at chromosomal and genetic level using next generation sequencing (NGS). By exploring genetic factors of infertility, discovering related molecular mechanism and interaction networks of target genes, we can provide the foundation for clinical treatment and intervention. For the couples undergoing IVF procedures, preimplantation genetic diagnosis/screening (PGD/PGS) provides an effective approach to increase the success rate of IVF. By detecting embryonic chromosomal abnormalities with NGS and selecting the normal embryo for transfer into uterus, PGD/PGS can improve the live birth rate in IVF/ICSI and reduce RSA and birth defects.

Stem Cell

Stem cells hold great promise for new advances in the understanding of diseases mechanisms and the development of new drugs and therapies. In addition, it is a promising approach for cell therapy especially for degenerative diseases. Based on the robust cell preservation platform and high-quality laboratory devices, BGI Research performs cell preservation, stem cell differentiation, embryonic development, cell genetics and iPSCs, contributing to cell therapy, regenerative medicine and clinical application.


Reproductive health research also center focuses on reproductive tract infection, intrauterine infection, children's respiratory and intestinal infection, in order to clarify the important detriment of pathogens on reproductive health in each period and explore novel pathogenic microorganisms, that contributing to clinical therapeutic and vaccine design. It promises to develop a novel method for rapid detection of main pathogen of children’s acute pneumonic fever or diarrhea with unclear etiopathogenesis.