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Pregnancy Lifestyle Does Not Explain Every Fetal Abnormality
A baby’s development is affected by many complicated factors.
If an ultrasound shows a concern, it does not automatically mean the mother caused it through food, stress, exercise or another lifestyle choice.
Sometimes genes may help explain what doctors see.
New recommendations explain when doctors should consider special genetic testing during pregnancy.
This testing is not meant for every pregnancy.
Doctors look at ultrasound findings, family history and information from both parents.
Testing may still fail to provide a clear answer, and results can change as science learns more.
Genetic counsellors help families understand what testing might mean.
Doctors should use the test carefully and respect each family’s needs and decisions.
New 2026 recommendations guide the use of prenatal genomic sequencing when fetal abnormalities suggest a possible genetic cause.
Sequencing is not recommended as a routine screening test for pregnancies without ultrasound abnormalities.
Doctors are advised to document fetal features carefully because findings can change as pregnancy progresses.
Testing the fetus and both biological parents is the preferred strategy and may improve diagnostic yield and turnaround time.
More than half of cases may remain inconclusive, making genetic counselling and continued clinical assessment essential.
- Who
- The European Society of Human Genetics and the International Society for Prenatal Diagnosis issued the recommendations; doctors, genetic counsellors and expectant parents are involved in applying them.
- What
- Updated guidance explains when and how diagnostic genomic sequencing should be used during pregnancy.
- Where
- The guidance is described as global; the article was authored by Dr Shrinidhi Nathany of Fortis Memorial Research Institute, Gurgaon.
- When
- The recommendations were published in 2026.
- Why
- To improve the assessment of suspected fetal genetic conditions, interpretation of results and informed decision-making without treating genomic sequencing as routine screening.
Key facts
- Routine screening
- Prenatal genomic sequencing is not recommended for pregnancies without ultrasound abnormalities.
- When testing may be considered
- A major single fetal abnormality, multiple abnormalities suggesting a genetic cause, selected recurrent patterns, or certain prior undiagnosed cases may justify testing.
- Asymptomatic diagnostic yield
- The article reports a diagnostic yield of around 1% in fetuses without symptoms or ultrasound abnormalities.
- Preferred testing strategy
- Trio testing examines the fetus and both biological parents.
- Uncertain results
- More than half of cases can remain inconclusive.
- Interpretation
- Genetic findings should be assessed alongside fetal features, family history and other investigations.
- Counselling
- Guidance recommends genetic counselling before and after testing.
Sources
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