- About 3 percent of babies born in the United States are affected by genetic disorders.
- Genetic testing is a common tool used by medical professionals and parents to determine if a fetus has a birth defect.
- Experts say abortion restrictions being put into place in the wake of the Supreme Court’s decision to overturn Roe vs. Wade are limiting the options parents have after receiving genetic test results.
Testing for potential genetic defects in a developing fetus has become a common component of prenatal care.
However, the ability to terminate a pregnancy due to a profound or fatal genetic deformity is being limited or even eliminated altogether in states that have imposed new abortion restrictions in the wake of the U.S. Supreme Court decision to overturn Roe vs. Wade’s constitutionally protected right to abortion.
“Since genetic testing is predominantly for information gathering, a change in access to termination will not necessarily change the demand for testing,” said Dr. Anjali Kaimal, the chair of the American College of Obstetricians and Gynecologists (ACOG) Committee on Clinical Practice Guidelines – Obstetrics and chief of the Division of Maternal-Fetal Medicine at Massachusetts General Hospital. “It will change the options and resources available to patients who desire pregnancy termination for any reason, including abnormal test results.”
“Depending on the laws, [testing providers] may not be able to deliver results in a timeframe that would allow for patients to consider termination,” added Lauren Doyle, a certified genetic counselor and the director of the University of North Carolina at Greensboro’s Genetic Counseling program.
Prenatal tests can detect genetic disorders linked to missing or extra chromosomes in fetal DNA as well as inherited genetic mutations.
Down syndrome is a condition related to having an extra chromosome. Others include Patau syndrome and Edwards syndrome.
Sickle cell disease, cystic fibrosis, and Tay-Sachs Disease are examples of conditions caused by inherited genetic mutations.
Kaimal told Healthline that while data on how frequently pregnancies are terminated due to genetic test results is limited, some small studies have shown that with diagnoses of Patau Syndrome and Edwards Syndrome, “which are severely life-limiting and associated with a high risk of death during pregnancy or in the first weeks of life, the rate of pregnancy termination may be 75 percent or higher.”
She added, however, that “this may not be the case with genetic changes that have less impact on life expectancy and risk of complications.”
“When a parent finds out that a fetus has significant developmental problems early on, like congential diagphragmatic hernia resulting in no lung tissue, anencephaly resulting in the brain being unprotected, hydrops that will result in heart failure, and others, the parent can wait for the fetus to pass naturally and risk complications for the mother that could have consequences during the pregnancy or in a future pregnancy, or terminate the pregnancy at a time and in a manner that is safest for the parent,” Doyle told Healthline.
“It is emotionally and psychologically devastating for someone to be told that their baby has significant developmental defects or a condition that will not allow the baby to survive. Termination provides parents with an opportunity to have some control in a situation in which they are otherwise completely powerless, and can provide an opportunity to have a safer delivery for the mother,” she added.
Prenatal screening tests can alert pregnant women to the risk that they are carrying a child with a genetic defect. Diagnostic tests are used to confirm whether a defect exists.
“It is standard of care and the current guidelines to offer genetic testing to all pregnant persons in every pregnancy,” Doyle said.
Screening tests, which include drawing samples of the mother’s blood and an ultrasound exam, typically take place between weeks 10 and 13 of pregnancy, according to ACOG.
Confirmatory testing for conditions such as Down syndrome, Edwards syndrome, and neural tube defects of the brain and spine aren’t conducted until the second trimester of pregnancy, between weeks 15 and 22.
“The nature of testing within pregnancy is such that aspects of fetal development are not knowable at the moment of conception,” Doyle said. “While screening and testing have advanced significantly in the past several years, we remain limited by the nature of the process. Conditions that are lethal to a fetus are not known or knowable until different time periods in pregnancy. Some structural conditions can be identified in the first trimester if a pregnant person has access to quality prenatal care in the first trimester. Others are not known until 20 weeks or even in the third trimester.”
By overturning the Roe vs. Wade decision, the Supreme Court returned the ability to limit or ban abortion to the states. Some responded with so-called “trigger laws” that immediately constrained abortion rights.
Right now, 13 states have laws on the books mandating near-total bans on abortion. Some took effect immediately while others take effect 30 days after the ruling.
All these laws have exceptions for procedures that save the life of the mother, but only five allow exceptions for pregnancies arising out of rape or incest.
Another 11 states have laws with early gestational bans that restrict abortions to the earliest stages of pregnancy.
None of the laws in states banning abortions make explicit exceptions for terminating a pregnancy due to known fetal defects.
Practically speaking, any of these state abortion laws will make it more difficult or even impossible for women to get genetic test results in a timely enough fashion to decide whether to terminate a pregnancy that will yield a dead or profoundly disabled baby.
“For people who are having initial prenatal visits in the first trimester, testing is usually done at that time,” said Kaimal. “Results usually take 1 to 2 weeks to come back. If a screening test shows an increased risk, diagnostic testing is recommended for definitive information. Results from a CVS also take about 2 weeks. So, from the time a test is sent until the time that the diagnosis can be made may be about 4 weeks.”
Genetic testing in pregnancy is not and never has been simply about choosing to terminate a pregnancy or continue, said Doyle.
“It is a tool for expanding information, for helping families to prepare for a birth experience or child that may not be what they originally envisioned,” she said.
“Many times, including for those who thought they would never choose abortion, having the option to terminate a pregnancy is a critical component to shifting lives in response to an unexpected event,” said Doyle. “Heartbeat laws limit autonomy, options and choice in many ways. People who are unable to act on results of genetic testing are likely to experience additional emotional, psychological and physical burdens. Stress has an epigenetic influence on developing babies and the generations who come after them, if they survive.”
“Being forced to birth a fetus that will die puts an incredible burden and risk on the mother and family,” said Doyle.