Researchers identify almost 300 genetic disorders that can be treated before birth

Good news!

Again it is disgusting and annoying how Harvard U avoided to say "woman" for most likely ideological reasons! Women are either "pregnancies" or "patients" or "families" or "individuals".

"A new study identifies nearly 300 genetic disorders that can be treated during pregnancy or in the first week of life, forming the basis for a “treatable fetal findings list” that could be offered to pregnant patients.

The findings could improve the diagnosis of genetic conditions in pregnancy and enhance the treatment options available for fetuses that have these conditions ...

Over the past decade, genomic sequencing has become a vital tool to help inform prenatal diagnoses. Genomic sequencing tests, combined with family history, can help identify genes responsible for ultrasound abnormalities. They can also uncover incidental findings that may predispose a fetus or newborn to serious but treatable conditions, such as a heart condition that can be treated with medications or a gastrointestinal disorder that can be managed with fluid and electrolyte therapies. ...

Through a literature review, the authors identified a total of 296 genetic conditions, ranging from disorders with emerging fetal therapies to those where immediate postnatal treatment can prevent irreversible harm. The authors emphasize that timely detection of these conditions could reduce morbidity and mortality, offering families unprecedented opportunities for early intervention. ..."

From the abstract:

"The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade.

Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype but may be relevant to fetal and newborn health. There are currently no guidelines for reporting incidental findings from fetal GS.

In the United States, GS for adults and children is recommended to include a list of “secondary findings” genes (ACMG SF v.3.2) that are associated with disorders for which surveillance or treatment can reduce morbidity and mortality. The genes on ACMG SF v.3.2 predominantly cause adult-onset disorders.

Importantly, many genetic disorders with fetal and infantile onset are treatable as well.

A proposed solution is to create a “treatable fetal findings list,” which can be offered to pregnant individuals undergoing fetal GS or, eventually, as a standalone cell-free fetal DNA screening test.

In this integrative review, we propose criteria for a treatable fetal findings list, then identify genetic disorders with clinically available or emerging fetal interventions and those for which clinical detection and intervention in the first week of life might lead to improved outcomes. Finally, we synthesize the potential benefits, limitations, and risks of a treatable fetal findings list."

Researchers ID genetic disorders that can be treated before birth — Harvard Gazette "Timely detection could reduce morbidity, offers opportunities for early intervention"

Advancing precision care in pregnancy through a treatable fetal findings list (no public access)

Advancing precision care in pregnancy through an actionable fetal findings list (preprint, open access)