Solution | Reproductive genetic NGS Detection Products Assist in the Prevention and Control of Birth Defects

Solution | Reproductive genetic NGS Detection Products Assist in the Prevention and Control of Birth Defects

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.

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

 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

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

 

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

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

 

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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