Empowering Reproductive Health with NGS

Birth defects remain a major public health concern, impacting families and healthcare systems worldwide. Early detection through advanced genetic technologies plays a critical role in prevention and informed decision-making. Next-generation sequencing (NGS) has emerged as a powerful tool in reproductive genetics, providing deeper insights into the genetic risks associated with pregnancy.

Comprehensive NGS Solutions for Reproductive Genetics

Our reproductive genetic NGS detection products are designed to deliver high sensitivity, accuracy, and efficiency across a range of applications:

• Carrier Screening: Identify genetic variants that may be passed on to offspring.
• Preimplantation Genetic Testing (PGT): Support embryo selection during assisted reproduction. 
• Prenatal Testing: Detect chromosomal abnormalities and single-gene disorders early in pregnancy.
• Newborn Screening: Enable rapid diagnosis and intervention for genetic conditions.

Benefits for Clinical and Research Applications

• High Accuracy: Reliable detection of pathogenic variants and structural abnormalities.
• Scalable Workflows: Streamlined processes for both high-throughput labs and smaller facilities. 
• Comprehensive Coverage: Suitable for a wide range of reproductive and hereditary conditions.
• Actionable Insights: Support clinicians and researchers in guiding patient care and family planning.

Toward a Healthier Future

By integrating NGS-based reproductive genetic detection into clinical practice, healthcare providers can better predict, prevent, and manage birth defects. These technologies not only improve patient outcomes but also contribute to healthier generations to come.

Common categories of reproductive genetic NGS detection

Category	Noninvasive Prenatal Genetic Testing – NIPT	Genomic Copy Number Variation Sequencing Technology-CNV-seq	Whole exome sequencing - WES	Whole genome sequencing - WGS	Genetic testing for embryo implantation (PGT-A, PGT-M, PGT-SR)	Carrier Screening NGS Testing
Sample type	Peripheral blood of pregnant women	Amniotic fluid, villi, umbilical cord blood, aborted tissue, peripheral blood	Genomic DNA samples, whole blood, tissue samples, etc.	Blood, tissue, amniotic fluid, etc.	Embryonic cells, blastocyst stage extratrophoblast	Peripheral blood, embryonic cells
DETECTION RANGE	Whole chromosome aneuploidy	Whole chromosome aneuploidy, large deletions/duplications and genome-wide CNVs	Abnormal chromosome number, copy number variation (CNV), single base variation (SNV) and small fragment insertion/deletion variation (indel)		Whole chromosome aneuploidy, known monogenic genetic disorders in the family, structural chromosomal abnormalities (translocations, inversions, etc.)	Autosomal recessive disorders, X-linked disorders, and autosomal dominant disorders.
Indications	Routine screening program, mainly for pregnant women	Aborted, stillborn or stillborn fetal tissue requiring identification of genetic etiology; pregnant women with indications or needs for interventional prenatal diagnosis	Patients who cannot be clinically diagnosed and have a high suspicion of genetic diseases; people with a family history of monogenic genetic diseases; patients with a significant family history, but do not know which disease; patients with mental status abnormalities such as unexplained developmental delay and mental retardation; and patients with a high clinical suspicion of diseases caused by genetic mutations		Recurrent transfer abortion and advanced age women; couples are carriers of the same autosomal recessive disease.	Have relatives with highly suspected hereditary diseases; pay attention to offspring health, couples with fertility desire, etc.

Reproductive Genetic NGS Testing Product Solutions

Solution 1. Single-cell whole genome amplification efficient enzyme digestion and library construction, which facilitates more accurate PGT detection

Hieff NGS Single Cell/Low Input WGA Kit (Cat12510) + Hieff NGS C169P1 OnePot Pro DNA Library Prep Kit (Cat13570)