We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Exome Sequencing Identifies Genetic Loci Linked to the Fetal Syndrome Nonimmune Hydrops Fetalis

By LabMedica International staff writers
Posted on 19 Oct 2020
An exome sequencing technique was used to identify genetic loci linked to development of about 30% of cases of nonimmune hydrops fetalis (NIHF).

Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments. More...
Locations can include the subcutaneous tissue on the scalp, the pleura (pleural effusion), the pericardium (pericardial effusion), and the abdomen (ascites). NHIF is actually a prenatal form of heart failure, in which the heart is unable to satisfy demand (in most cases abnormally high) for blood flow. This occurs when the fetal heart needs to pump a much greater volume of blood to deliver the same amount of oxygen. The increased demand for cardiac output leads to heart failure, and corresponding edema. NHIF has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear.

To determine the efficacy of exome sequencing for diagnosing NHIF, investigators at the University of California, San Francisco (USA) used the procedure to evaluate a series of 127 consecutive unexplained cases of NIHF that were defined by the presence of fetal ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency, or a combination of these conditions.

Results identified diagnostic genetic variants in 37 of the 127 cases (29%). These included those for disorders affecting the RAS–MAPK cell-signaling pathway (known as RASopathies) (30% of the genetic diagnoses); inborn errors of metabolism and musculoskeletal disorders (11% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic disorders (8% each); and others. Prognoses ranged from a relatively mild outcome to death during the perinatal period. Overall, 68% of the cases (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5% were de novo), one was inherited X-linked recessive, and one was of uncertain inheritance.

First author Dr. Teresa Sparks, assistant professor of obstetrics, gynecology, and reproductive sciences at the University of California, San Francisco, said, "The cause of most cases of NIHF is not identified with standard testing, but when we apply exome sequencing, we find a genetic diagnosis in nearly 30% of cases of previously unknown cause. There is a very wide range in genetic diagnoses underlying NIHF, and identifying the diagnosis is essential for families and healthcare providers. With advanced genetic testing, there is much more we can discover for families to help them understand the situation, for obstetricians and neonatologists to better take care of the pregnancy and anticipate the needs of the newborn, and ultimately to guide the development of novel prenatal management strategies such as in-utero therapies to improve health outcomes over the long term."

The NHIF exome sequencing study was published in the October 7, 2020, online edition of The New England Journal of Medicine.

Related Links:
University of California, San Francisco


New
Gold Member
Latex Test
SLE-Latex Test
3-Part Differential Hematology Analyzer
Swelab Alfa Plus Sampler
New
Pan-Cancer Panel
TruSight Oncology 500
New
Drug Test Kit
DrugCheck 3000
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








DIASOURCE (A Biovendor Company)

Channels

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.