Blog

A new interesting article has been published in Mol Genet Genomic Med. 2019 Dec 1:e1062. doi: 10.1002/mgg3.1062. and titled:

Social and medical need for whole genome high resolution NIPT.

Authors of this article are:

Srebniak MI, Knapen MFCM, Govaerts LCP, Polak M, Joosten M, Diderich KEM, van Zutven LJCM, Prinsen KAKE, Riedijk S, Go ATJI, Galjaard RH, Hoefsloot LH, Van Opstal D.

A summary of the article is shown below:

BACKGROUND: Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy. To anticipate future trends in prenatal screening and diagnosis, we evaluated the number of invasive tests in our center and the number of aberrant cases diagnosed in the last decade.METHODS: We retrospectively analyzed fetal chromosomal aberrations diagnosed in 2009-2018 in 8,608 pregnancies without ultrasound anomalies.RESULTS: The introduction of NIPT as the first-tier test led to a substantial decrease in the number of invasive tests and a substantially increased diagnostic yield of aneuploidies in the first trimester. However, we have also noted a decreased detection of submicroscopic aberrations, since the number of invasive tests substantially decreased. We have observed that pregnant women were interested in broader scope of prenatal screening and diagnosis than detection of common trisomies.CONCLUSION: Since the frequency of syndromic disorders caused by microdeletions/microduplications is substantial and current routine NIPT and ultrasound investigations are not able to detect them, we suggest that a noninvasive test with resolution comparable to microarrays should be developed, which will also meet patient’s needs.© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31790156 forceshot=true]

This article is a good source of information and a good way to become familiar with topics such as: NIPT; diagnostic yield; microarray; patients preferences; prenatal diagnosis.

---

NativeFolder: The Only Bacterial Culture Medium for the Expression of Soluble Proteins

---

Interference Test Kit for Assay Validation

---

Rheumatoid Factor Interference Blocker

---

New Antibodies from MOLECULAR DEPOT

---

New Proteins from MOLECULAR DEPOT

---

New Chemicals from MOLECULAR DEPOT