Since January 2024, the field of reproductive genetics has gradually ushered in a series of milestones, and four expert consensus on the direction of carrier screening has emerged to jointly support the translation of clinical application of screening. The genetic NGS detection kits of many detection companies have been approved for marketing successively, and reproductive genetic detection has accelerated the era of "certificate", greatly expanding the scope of NGS technology applied in prenatal diagnosis, and marking another key step for NGS technology in the construction of birth defect prevention and control system in China.
On January 11, 2024, Annoyoda CNV-seq product was approved to simultaneously detect chromosomal aneuploidy and CNV variation in amniotic fluid samples and fill the domestic gap;
On February 21, 2024, BGI CNV-seq amniotic fluid detection kit obtained the medical device registration certificate, which continued to open a new chapter for birth defect prevention and control after CNV-Seq abortion tissue detection was certified in 2022;
On March 21, 2024, Berry Gene "Chromosome Copy Number Variation Assay Kit (Reversible End Termination Sequencing)" was approved by China Food and Drug Administration (NMPA) for marketing.
On April 11, 2024, Jay Yimat 's Chromosome Copy Number Variation Assay based on Microarray Chip Technology (CMA) officially approved the NMPA registration certificate.
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. |
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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 TMSingle Cell/Low Input WGA Kit (Cat12510) + Hieff NGS TMC169P1 OnePot Pro DNA Library Prep Kit (Cat13570)
Performance Presentation:
|
ibrary Kit |
DNA Samples and Inputs |
Library Conditions |
Connector |
Number of cycles |
|
12570 + enzymatic Library construction 13570 |
WGA product Input 100 ng |
DNA Fragment 30℃ for 25 min, dA-tailing for 20 min, and adapter ligation for 15 min |
MGI adapter |
6cycle |
|
Performance Performance |
 |
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Solution 2. cfDNA extraction + high-yield DNA library construction to achieve noninvasive prenatal DNA detection more efficiently
MolPureTM Magnetic Circulating Cell-Free DNA Kit (Cat# 18382ES) + Hieff NGSTM DNA Library Prep Kit (Cat12927)
Library Building Workflow
Performance Presentation
|
Kit |
Sample |
Experimental conditions |
Number of cycles |
|
Library Establishment 12927 |
cfDNA sample
|
The input amount was 0.1 – 5 ng, with Illumina long adapters, 1.0 × purified after adaptor ligation, the library was amplified for 15 cycles, and the amplified products were 0.8/0.15 × sorted. |
15 cycles |
|
Performance Performance |
 |
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Solution 3. A product is multifunctional and synchronously realizes WGS, WES and CNV-seq detection
Hieff NGSTM OnePot Pro DNA Library Prep Kit V3(Cat12194)
Performance Presentation
|
Kit |
SAMPLES AND INPUT VOLUME |
Experimental conditions |
Number of cycles |
|
Library Reagent 12194 |
Standard: NA12878 sample 500 ng |
Interruption time 15 min; 0.3/0.1 × sorting after adapter ligation; amplification product 0.9 × purification |
7 cycles |
|
Performance Performance
|
 |
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Solution 4. Whole exome capture reagent to escort reproductive health
Hieff NGSTM Human All Exon Probes (Cat12244)
Library Building Process
Performance Presentation
|
Kit |
SAMPLES AND INPUT VOLUME |
Experimental conditions |
Number of cycles |
|
Library Reagent 12194 + Capture Probe 12244 |
Standard: NA12878 sample 500 ng |
Hybridization capture of whole exome probes: 1) illumina and MGI library construction sequencing assays; 2) WES capture reagent assays from different manufacturers; 3) batch-to-batch stability data; 4) overnight hybridization and fast miscellaneous effect consistency tests |
7 cycles |
|
Performance Performance |
 |
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Solution 5. multiplex PCR amplification to achieve accurate detection of common known loci
2 × Hieff NGSTM HG Multiplex PCR Master Mix (Cat13283)
Performance Presentation
|
Kit |
Sample |
Experimental conditions |
Number of cycles |
|
Multiplex 13283 |
Human gDNA samples |
1) Combine with human 10-plex panel and 30 μl system to evaluate amplification homogeneity; 2) Combine human gDNA 10 ng with hotspot gene panel by about 200 weights to evaluate the coverage of the test. |
20-30cycle |
|
Performance Performance
|
 |
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In the field of reproductive genetics, product marketing is gradually "normalized", which is an important sign for the industry to become standardized and mature. Yisheng multiple reproductive genetic testing kits meet the different needs of many customers and help birth defect prevention and control detection more accurate and convenient!
Guidance for Selection of NGS Testing Products for Reproductive Health
|
PRODUCT |
Product name |
Catalog number |
|
|
NIPT Program |
CfDNA extraction |
MolPure TMMagnetic Cell-Free DNA Kit |
18382ES |
|
DNA banking by mechanical method |
Hieff NGS TMDNA Library Prep Kit |
13577ES |
|
|
DNA banking by mechanical method |
Hieff NGS TMDNA Library Prep Kit 2.0 |
12927ES |
|
|
PGT Program |
Single-cell whole genome amplification |
Hieff NGS TMSingle Cell/Low Input WGA Kit |
12510ES |
|
Library establishment by digestion |
Hieff NGS TMC169P1 OnePot Pro DNA Library Prep Kit |
13570ES |
|
|
Multiplex PCR Amplification Master Mix |
2 × Hieff NGS TMHG Multiplex PCR Master Mix |
13283ES |
|
|
Genetic Disease Testing |
Blood gDNA extraction |
MolPure TMMagnetic Blood DNA Kit |
18504ES |
|
DNA digestion library |
Hieff NGS TMOnePot Pro DNA Library Prep Kit V3 |
12194ES |
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