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A step forward in treating serious genetic disorders prenatally

A UC San Francisco-led study found that delivering medicine for spinal muscular atrophy (SMA) via the amniotic fluid was safe and helped prevent damage to nerve cells. The therapy used molecules called antisense oligonucleotides (ASOs), which can alter gene expression, and was tested in mice and sheep with promising results.

SourceUniversity of California - San Francisco·JournalScience Translational Medicine·DateMay 14, 2025

Is clinicians' decision making affected by 'precious baby' phenomenon?

A study found that clinicians are more likely to recommend invasive prenatal tests like amniocentesis for mothers who conceived naturally, compared to those who used assisted reproductive technologies (ART). The 'precious baby' phenomenon may affect medical advice, with doctors being influenced by the method of conception.

SourceUniversity of Plymouth·JournalHuman Reproduction·DateNov 4, 2013
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Cheap, simple, noninvasive blood test may replace invasive diagnostic techniques in early pregnancy

Researchers have developed a simple, non-invasive blood test that can detect chromosomal abnormalities in the developing fetus using molecular genetic probes. The test has already shown promise in identifying DNA from the Y chromosome and is being investigated for detecting trisomy 21 (Down's syndrome) and other conditions.

SourceEuropean Society of Human Reproduction and Embryology·DateJun 29, 2010

New blood test for Down syndrome

Researchers at Howard Hughes Medical Institute have created a non-invasive blood test that accurately detects Down syndrome and two other serious chromosomal defects. The test is more accurate than previous methods and can provide results within a few days, reducing the wait time for anxious parents.

SourceHoward Hughes Medical Institute·JournalProceedings of the National Academy of Sciences·DateOct 6, 2008
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New study finds amniocentesis safer for pregnant women

A new study published in the journal Obstetrics & Gynecology found that midtrimester amniocentesis is associated with a lower risk of miscarriage than previously reported, with a rate of approximately 1 in 1,600 pregnancies. The study refutes the typically quoted 0.5% pregnancy loss rate and suggests it may be even lower than 0.1%.

SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalObstetrics and Gynecology·DateNov 1, 2006

Study shows prenatal diagnostic tests have low risk of miscarriage

Researchers found that both amniocentesis and chorionic villus sampling (CVS) carry a low risk of miscarriage. While CVS was initially believed to have a higher rate of miscarriage, the study revealed that this risk decreased over time.

SourceUniversity of California - San Francisco·JournalObstetrics and Gynecology·DateAug 31, 2006

Study calls for end to age thresholds for prenatal genetic testing

A study published in The Lancet suggests that prenatal genetic testing should be offered to all pregnant women, regardless of age or risk, as it is cost-effective. The researchers found that the benefits of early testing outweigh the costs, particularly for high-risk pregnancies.

SourceThe Lancet_DELETED·JournalThe Lancet·DateJan 22, 2004