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aneuploidy

A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.

The addition of the Y chromosome detection will enable the firm to refine its already-approved MaternalFetalScreen T1 test to provide personalized risk assessment.

Horizon will help develop the cell line-derived reference material, St. George's will provide clinical samples, and the EMQN will run a validation study.

Under a proposed decision, to be finalized in August and become effective in late 2020, NIPT would only be covered for women with particular fetal trisomy risks.

Last week, Invitae launched its Non-Invasive Prenatal Screening test while Myriad expanded its Prequel Prenatal Screen to cover all aneuploidies.

The company, which changed its name from Premaitha Health last month, saw a 73 percent increase in testing volumes during the first half of fiscal year 2018.

During the first year of the TRIDENT-2 study, 74,000 women opted for NIPT, which was switched from in-house-developed platforms to Illumina's VeriSeq in May of this year.

By early 2020, the UK company plans to develop a version of its Iona test that uses Illumina's sequencing technology.

Although the two studies seem to provide conflicting results on the impact of PGS, the "devil's in the details," according to an outside expert.

The report states that using NIPD for trisomy 21 in high-risk women could "probably reduce" the total number of invasive tests though the data is incomplete.

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The long-running Framingham Heart Study has received a $38 million grant, according to the Boston Globe.

A Stanford University investigation finds that its researchers did not take part in He Jiankui's work to develop gene-edited infants.

Retraction Watch reports that two researchers had both a Science and a Nature paper retracted last week.

In Genome Biology this week: genomic sequencing of milkweed bug, benchmark comparison of single-cell RNA sequencing platforms, and more.