- Genetic diseases impact around 3% of newborns born in the United States.
- Medical experts and parents commonly utilise genetic testing to detect if a foetus has a birth problem.
- Experts claim abortion limitations imposed in the aftermath of the Supreme Court’s decision to overturn Roe v. Wade are restricting parents’ options after obtaining genetic test findings.
Prenatal care now includes testing for suspected genetic abnormalities in a growing foetus.
However, in states that have imposed new abortion restrictions in the aftermath of the U.S. Supreme Court decision to overturn Roe v. Wade’s constitutionally protected right to abortion, the ability to terminate a pregnancy due to a profound or fatal genetic deformity is being limited or even eliminated entirely.
“Because genetic testing is primarily used for information gathering, a change in access to termination will not necessarily change the demand for testing,” said Dr. Anjali Kaimal, chair of the ACOG Committee on Clinical Practice Guidelines – Obstetrics and chief of the Division of Maternal-Fetal Medicine at Massachusetts General Hospital. “It will alter the options and services available to people seeking abortion for any reason, including abnormal test findings.”
“Depending on the regulations, [testing providers] may not be able to produce findings in a period that would allow patients to consider termination,” said Lauren Doyle, a licenced genetic counsellor and the head of the Genetic Counseling programme at the University of North Carolina at Greensboro.
Birth defects afflict around 3% of newborns born in the United States, according to Trusted Source. These genetic diseases are responsible for around 20% of all neonatal fatalities.
Prenatal diagnostics can discover inherited genetic alterations as well as genetic diseases caused by missing or extra chromosomes in foetal DNA.
Down syndrome is a disorder caused by an extra chromosome. Patau syndrome and Edwards syndrome are two others.
Inherited genetic mutations cause illnesses such as sickle cell disease, cystic fibrosis, and Tay-Sachs disease.
Terminating a pregnancy
While data on the frequency of pregnancies terminated due to genetic test results is limited, Kaimal told Healthline that with diagnoses of Patau Syndrome and Edwards Syndrome, “which seem to be severely life-limiting and associated with a high risk of death all through pregnancy or in the first weeks of life, the rate of terminating a pregnancy may be 75 percent or higher.”
“This may not be the case with genetic variations that have less influence on life expectancy and risk of problems,” she noted.
“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.
Timing and testing
Prenatal screening tests can warn pregnant mothers to the possibility that their kid has a genetic abnormality. Diagnostic tests are performed to determine whether or not a defect exists.
“It is standard of care and current standards to give genetic testing to all pregnant women in all pregnancies,” Doyle said.
According to ACOG, screening tests, which involve collecting blood samples from the mother and an ultrasound scan, are commonly performed between weeks 10 and 13 of pregnancy.
Confirmatory testing for diseases such as Down syndrome, Edwards syndrome, and brain and spine neural tube abnormalities is not performed until the second trimester of pregnancy, between weeks 15 and 22.
“The nature of pregnancy testing is such that components of foetal development are unknown at the time of conception,” Doyle explained. “While screening and testing have evolved tremendously in recent years, we are still constrained by the nature of the procedure.” Conditions that are deadly to a foetus are unknown or unknown until certain stages of pregnancy. Some structural abnormalities can be detected in the first trimester if a pregnant woman has access to adequate prenatal care. Others aren’t recognised until the 20th week, or even the third trimester.”
By reversing Roe v. Wade, the Supreme Court gave states the authority to regulate or prohibit abortion.
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.
The anxiety of making a decision
In practise, any of these state abortion regulations will make it more difficult, if not impossible, for women to obtain genetic test results in time to determine whether to terminate a pregnancy that will end in a dead or severely deformed infant.
“Testing is normally done during the first trimester for patients who are having initial prenatal appointments,” Kaimal explained. “It normally takes 1 to 2 weeks for the results to come back.” If a screening test reveals an elevated risk, diagnostic testing is advised for definite results. CVS results take roughly 2 weeks as well. So, it might take up to four weeks from the time a test is sent to the time a diagnosis can be established.”
“It’s a tool for spreading knowledge and assisting couples in preparing for a delivery experience or kid that may not be what they originally envisioned,” she explained.
“Having the option to terminate a pregnancy is often a critical component of shifting lives in response to an unexpected event,” Doyle said. “In many respects, heartbeat laws constrain autonomy, alternatives, and choice.” Individuals who are unable to act on the results of genetic testing are likely to face extra emotional, psychological, and physical costs. Stress has an epigenetic impact on growing newborns and future generations, if they survive.”