Fetal DNA sequencing potentially could reduce need for invasive prenatal diagnostic procedures

August 2, 2018, National Institutes of Health

Sequencing the fetal DNA that circulates in a pregnant woman's blood holds promise for modern genomic medicine, according to a review article by Diana W. Bianchi, M.D., a senior researcher and institute director at the National Institutes of Health, and her colleague. Fetal DNA sequencing improves the accuracy of prenatal screening tests for genetic conditions and at times has led to the diagnosis of maternal conditions that may have otherwise gone undetected. The article appears in the New England Journal of Medicine.

The analyzes fetal DNA that enters a pregnant woman's blood from her placental cells. It most commonly is used to screen for fetal disorders resulting from an extra chromosome: Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome). It also has been used to detect conditions resulting from an extra sex chromosome, from a missing part of a chromosome, and even for conditions resulting from a single gene mutation. Among women who test negative for any abnormalities, cell free DNA sequencing may reduce the need for additional prenatal testing procedures , some of which may increase miscarriage risk. The American College of Medical Genetics and The American College of Obstetricians and Gynecologists caution that patients and their clinicians should know that fetal DNA sequencing is a screening test and not a diagnostic test. Confirmatory testing should continue to be offered to women with positive results. The authors also note that at present, no fetal DNA sequencing tests have been reviewed by the FDA to evaluate their analytical and clinical validity or performance claims, and the validity of the results may vary from lab to lab.

Because maternal DNA is also in the blood sample, it is sequenced along with fetal DNA, which may lead to the detection of in the , including blood abnormalities and sex chromosome abnormalities. The growth of DNA testing and its rapid incorporation into medical care has identified a need for more genetic education and consideration of the ethics of expanded prenatal testing, the authors conclude.

Explore further: Sequential screening provides better test performance than cell free DNA

More information: Diana W. Bianchi et al. Sequencing of Circulating Cell-free DNA during Pregnancy, New England Journal of Medicine (2018). DOI: 10.1056/NEJMra1705345

Related Stories

Sequential screening provides better test performance than cell free DNA

February 2, 2015
In a study to be presented on Feb. 5 in an oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report that cell free DNA analysis ...

Non-invasive first trimester blood test reliably detects Down's syndrome

February 3, 2015
Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), and ...

Non-invasive first trimester blood test reliably detects Down's syndrome

June 7, 2013
New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman's blood can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. ...

Non-invasive prenatal diagnosis can reliably detect trisomy 21

July 5, 2018
Until a few years ago, invasive testing was the only way to diagnose trisomies, such as the Down syndrome, before birth. These invasive tests, for example amniocentesis, have a risk of causing miscarriage. Therefore, they ...

Recommended for you

Study examines effects of taking ondansetron during first trimester of pregnancy

December 18, 2018
Ondansetron (Zofran) is commonly and increasingly prescribed during pregnancy to relieve nausea. In 2014, an estimated 22 percent of pregnant women in the U.S. had used the drug at some point during their pregnancy. Despite ...

Early postpartum opioids linked with persistent usage

December 14, 2018
Vanderbilt researchers have published findings indicating that regardless of whether a woman delivers a child by cesarean section or by vaginal birth, if they fill prescriptions for opioid pain medications early in the postpartum ...

Hysterectomy linked to memory deficit in an animal model

December 6, 2018
By age 60, one in three American women have had a hysterectomy. Though hysterectomy is a prevalent and routine surgery, the removal of the uterus before natural menopause might actually be problematic for cognitive processes ...

Obesity intervention needed before pregnancy

December 6, 2018
New research from the University of Adelaide's Robinson Research Institute supports the need for dietary and lifestyle interventions before overweight and obese women become pregnant.

First baby born via uterus transplanted from dead donor

December 5, 2018
In a medical first, a mother who received a uterus transplant from a dead donor gave birth to a healthy baby, researchers reported Wednesday.

Researchers find evidence of prenatal environment tuning genomic imprinting

December 5, 2018
A team of researchers from the U.S., Australia and Denmark has found evidence of the prenatal environment tuning genomic imprinting. In their paper published in Proceedings of the National Academy of Sciences, the group describes ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.