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What Fetal Genome Screening Could Mean for Babies and Parents

Today’s genetic technologies are not yet a crystal ball for seeing a child’s future, but doctors are closer than ever to routinely glimpsing the full genetic blueprints of a fetus just months after sperm meets egg. That genomic reconstruction would reveal future disease risk and genetic traits even as early as the first trimester of pregnancy. Fetal screening could theoretically detect every hint of disease-associated mutations or disease-carrier status in a fetus’s genome—sometimes outpacing geneticists’ knowledge of how to interpret such information. It could also reveal nonmedical markers for eye color or athletic prowess.

Advances in fetal cell research, coupled with the ever-dropping…

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 Poetic scenes of prenatal screening

The topic of prenatal screening was inadvertently gifted to me by parents of children with Down syndrome. During our interviews about their child’s sleep difficulties, these parents presented to me painfully preserved accounts of their child’s diagnosis of Down syndrome (Cooke et al., Citation2023). Often traumatic, the passing of years did not seem to smooth sharp thorns.

 The Future of Prenatal Diagnosis and Screening

The past half-century has been witness to the application of a series of clinical and laboratory technologies that have provided remarkable insights into the human genome. It is now possible to define the human genotype at distinct biological levels, chromosome, gene, nucleotide, as well as their intrinsic and extrinsic interactions culminating in phenotype. Nowhere have these technologies, and the genetic information generated from them, been more widely applied than in the case of prenatal testing, both screening and diagnosis.

Articles of Interest

Maternal Serum Screening

The American College of Obstetricians and Gynecologists (ACOG), American College of Medical Genetics and Genomics (ACMG), and Society for Maternal-Fetal Medicine (SMFM) recommend offering both screening and diagnostic testing for chromosomal abnormalities and neural tube defects (NTD) to all pregnant women. Screening options include maternal serum screening (MSS), cell-free DNA (cfDNA) screening, and ultrasound. Testing is optional; women may decline screening, as well as prenatal diagnosis.

Prenatal Testing Can Ease Minds Or Heighten Anxieties

If you're the type of parent who does want as much information as possible, you may be inclined to take the most comprehensive test on the market. However, Aleks Rajkovic, chief genomics officer at UCSF, cautions families attracted to extensive panels.

Will new prenatal tests scare parents into bad decisions?

Sex chromosome disorders, detected by the tests, are common but often misunderstood.

A Pregnancy Scare

I had one of the worst days of my life not long ago… Pregnant women get all types of tests these days, as I'm sure you all know. Genetic tests, tests that examine the amniotic fluid, tests that look for diseases like diabetes in the mother. Sometimes I think that the whole of pregnancy, medically speaking, is just a giant exercise in monitoring. A lot of times there's nothing they can actually do if they find something wrong; but because people can know things, it's impossible to resist finding out.

All Pregnant Women Should Be Screened for Blood-Pressure Disorders, U.S. Advisers Say

Pregnant women should be screened for hypertensive disorders at every prenatal visit, government-backed medical experts recommended, urging doctors to do more to reach people at risk for increasingly common threats to maternal health.

Antenatal screening

Antenatal screening is performed in the first or second trimester to determine whether a pregnant woman’s baby has an increased risk of having Down syndrome (a chromosomal abnormality affecting one in 500 pregnancies), Edward syndrome (one in 3000) or open neural tube defects (one in 750). First trimester screening combines results from a blood test with a nuchal translucency and nasal bone obstetric scan during the first trimester of pregnancy. Second trimester screening requires only a blood test.

Death by Uncertainty: False Positives in Prenatal Testing

Many were appalled when the New York Times published a jaw-dropping report exposing the unacceptably high rate of false positives from noninvasive prenatal screens. These false positives far too often mislead anxious parents to abort a perfectly healthy child, yet science shows the results are more often wrong than right, especially when screening for rare disorders.

Does Prenatal Testing for Down Syndrome Amount to Eugenics?

At the same time, I worry a bit that your reason for not wanting a child with Down syndrome reflects a misunderstanding of what that child’s life will be like. While people with Down syndrome had severely curtailed lives in the past — their life expectancy in the early 20th century was estimated to be about 9 years — they are now living much longer. Recent estimates suggest that a child with Down syndrome will now have a life expectancy of around 60 years.

Double, Triple and Quadruple Marker Tests: What Parents Should Know

The primary purpose of double, triple, and quadruple marker tests is to screen for potential genetic abnormalities and birth defects in the fetus. These tests analyze specific substances present in the mother's blood to assess the risk of various conditions.

F.D.A. Wants to Regulate Prenatal Tests That Have Misled Parents

A booming industry has recently come under scrutiny for some of its testing, including a high rate of false positive results.

More Women Skip Some Prenatal Tests After Learning About Risks

For decades, OB-GYNs have offered prenatal tests to expectant moms to uncover potential issues, including Down syndrome, before they give birth. However, some tests, such as amniocentesis and chorionic villus sampling, carry health risks, including miscarriage. For some women, the risks can be greater than the potential benefits from information they would gain. Evidence now suggests that women who are well-informed about the pros and cons are more likely to decline testing, even when the tests are free, indicating that the average mother-to-be might not have all the facts.

Most Parents Want to Test Their Unborn Kids’ Genes For Disease Risk

Despite the fact that they might not like what they learn.

New Genetic Tests for Women Who Are Expecting

A growing array of tests to check if women are carriers for mostly rare diseases.

Newborn screening in the genomics era: are we ready for genome sequencing?

Recent advances in next generation sequencing (NGS) could potentially revolutionize newborn screening, the largest public health genetics program in the United States and around the world.

Prenatal Screenings and Tests: What to Expect Every Trimester

Pregnancy includes an array of routine and specialized tests. We’ve put together a list of the screening tests you can expect— or may consider—during your first, second and third trimester when it comes to tracking your baby’s health and your own.

Prenatal Testing Can Ease Minds Or Heighten Anxieties

In the past, doctors may have screened parents for a few suspect diseases common to their specific ethnicity or family history. But now a growing number of companies offer extensive panels testing for hundreds of rare diseases. "Over the last 10 to 20 years the number of genetic disorders that we are able to test for has exploded," says Dr. Mary Norton, a prenatal geneticist at University of California, San Francisco.

The California Prenatal Screening Program

The California Prenatal Screening Program is voluntary. Women can refuse testing without losing insurance benefi ts or eligibility or services from State Programs.

The Thorny Ethics of Prenatal Testing

Recent technological advances raise a pressing ethical question: Should prospective parents be able to acquire whatever genetic information they want about their fetus? One answer is yes, if parents truly understand the nature and limits of the information they’re requesting, they have a right to acquire it and use it as they see fit. That’s what a recent essay in the New England Journal of Medicine advocates, and, ultimately, that might be the best answer staunch pro-choicers like myself can offer.

Toxoplasma is a common parasite that causes birth defects – but the US doesn’t screen for it during pregnancy

Imagine the shock of your baby being born with a swollen brain, blindness and debilitating seizures. Now imagine learning that these devastating conditions could have been prevented if you took a simple test for the common parasite Toxoplasma gondii. Toxoplasma can be picked up anywhere an infected cat has defecated, such as the litter box, sandbox, garden or yard. Other routes of infection include consumption of contaminated water, undercooked meat or shellfish. Most people experience mild illness and can get the infection under control. However, if contracted for the first time while pregnant, Toxoplasma can cross the placenta and cause spontaneous abortion or serious birth abnormalities

When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong

In just over a decade, the tests have gone from laboratory experiments to an industry that serves more than a third of the pregnant women in America, luring major companies like Labcorp and Quest Diagnostics into the business, alongside many start-ups. The tests initially looked for Down syndrome and worked very well. But as manufacturers tried to outsell each other, they began offering additional screenings for increasingly rare conditions. The grave predictions made by those newer tests are usually wrong, an examination by The New York Times has found.

Resources

6 Things To Consider Before Getting Preconception Genetic Testing

Genetic screening can be helpful, but you need to understand its limitations, too.

Know More Sooner

When it comes to what’s best for your baby, it’s natural to want to know…everything. From getting a peek into your gene pool, to knowing the sex of your child, to receiving insights into your baby’s development, prenatal genetic screening—in the form of a simple blood test–can tell you so much before your baby is even born.