Breaking news: prenatal testing for Down syndrome done right from now on

by Petr Kratochvil, photo courtesy of www.publicdomainpictures.net

Prenatal testing for Down syndrome will be done right going forward from today.

Readers know that I am critical of the way prenatal testing for Down syndrome has traditionally been administered. Some believe that means I’m against prenatal testing. But, being against prenatal testing is like being against the sun rising in the east–it’s going to happen. And, prenatal testing is value-neutral in and of itself: it simply provides information. The issues arise in the fact that it is a technology administered by humans in a society that is still progressing to fully including individuals with Down syndrome and seeing them as people first, not a medical condition or burden.

Which is why I’m so thankful that today, finally, prenatal testing for Down syndrome will be done right going forward.

In a historic effort all medical professionals, testing laboratories, public agencies, and media outlets have committed to following the professional guidelines so that women make informed decisions about whether to accept prenatal testing and then what decision they make following a prenatal test result:

• Prenatal testing will not be considered a part of “routine” prenatal care, but instead requires an independent, voluntary, informed choice exercised by the expectant mother
• She won’t have a blood sample drawn and be asked, “you want us to run the test for Down syndrome, right?” Instead she will receive pre-test counseling on the options for prenatal testing, understanding that this is the first step on a path towards ultimately being confronted with whether she wants to risk a miscarriage to confirm results and then have to decide whether to terminate or continue her pregnancy.
• She will also be counseled that she can decline testing, and she won’t be asked at each subsequent visit if she’s sure she doesn’t want prenatal testing.
• The media on reporting on advances in prenatal testing, and medical professionals, will avoid calling developments the “holy grail” of prenatal testing that will identify “defective fetuses.” They have instead committed to always get a viewpoint from a representative of a Down syndrome organization to provide balance to every story on prenatal testing for Down syndrome.
• Should the expectant mother accept screening, her obstetrician will schedule a time when she will be called with the test results. The OB will instruct her staff not to simply call the woman out of the blue so she is shocked and can’t find her way out of the grocery, or having to pull over on the side of the road. The mother will have the opportunity to arrange for her significant other to be with her if she wishes when the time for the call is made.
• The positive predictive value (PPV) of the screening results will be reported as a one-in-however-many chance for having a child with Down syndrome. She will understand from her pre-test counseling and be reminded that the screening result is not diagnostic.
• Her OB will not pressure her to have diagnostic testing by reminding her that the time for having an abortion is running out.
• The woman will be referred to a genetic counselor to discuss the possibility of having non-invasive prenatal screening and what NIPS results can and cannot test for.
• She will not be offered NIPS for micro deletion conditions like DiGeorge syndrome or for sex chromosome conditions, like Turner syndrome.
• She will also be counseled about invasive testing, but be told what the specific risk of loss is based on the actual practitioner’s and hospital’s experience, not based on a national number based on outcomes at hospitals and providers she will never see.
• Should she decide to stop prenatal testing at this point, again, she will not be asked at subsequent visits if she’s really sure since the time is running out to “do something” if the test comes back positive.
• If she lives in Massachusetts or Kentucky, or Florida, Delaware, Pennsylvania, Ohio, or Illinois, Indiana, Texas, or Minnesota, her provider will follow the Down Syndrome Information Act’s requirement to provide written information and referral to her local parent support organization, since she has received a prenatal test result for Down syndrome.
• If she accepts NIPS, her provider will counsel her on what the cost will be to her, whether it is covered by her insurance, and whether the NIPS provider will discount the cost if her insurance will not pay for the test.
• Again, a time will be established for her test results to be told her over the phone so she can be in a place to receive the news with those she chooses to be with.
• Regardless of the test results, she will receive a follow up, post-test genetic counseling session. The expectant mom will NOT be told that NIPS results are “99% accurate.” Instead, she will be counseled on the PPV for her NIPS result, that there are still false positives and false negatives, and that diagnostic testing is still needed to confirm. She will have been told this prior to accepting testing, but will be reminded of it.
• If she chooses to rely on the NIPS result and forgo invasive testing, her choice will be respected and she will not be asked again if she doesn’t want to make sure before “time runs out.”
• At the same time, if she is considering terminating, her genetic counselor, OB, MFM, and abortion provider will counsel her that NIPS results remain a “maybe” and before making a decision to terminate she should confirm through diagnostic testing.
• Per ACMG guidelines, the patient will receive a printed copy of the Lettercase book Understanding a Down Syndrome Diagnosis, along with a link to view the parent stories at brightertomorrows.org, and the AAP healthcare guidelines for Down syndrome.
• Again, in states like Massachusetts and Kentucky, she will also be given the contact information for her local Down syndrome support organization so she may contact them if she so chooses.
• If she proceeds with invasive testing, she will be counseled that microarray testing is now recommended as a first-tier diagnostic test; that microarray can report findings of unknown significance; that some women find these results “toxic knowledge“; and that she will have a choice to forgo microarray if she wishes.
• A date will be set for the patient to return to her MFM’s office to receive the diagnostic results.
• If the results are positive for Down syndrome, her MFM will:
  • NOT say they have already made an appointment for her at the local abortion provider;
  • NOT say she needs to make her decision quick because time is running out;
  • NOT call her the week before the deadline for having an abortion in her state to ask “are you sure” if she has decided to continue.
• If the results are positive for Down syndrome, her MFM will:
  • Provide her a printed copy of the Lettercase book Understanding a Down Syndrome Diagnosis, along with a link to view the parent stories at brightertomorrows.org, per the NSGC guidelines for delivering a prenatal diagnosis;
  • Explain what Down syndrome means in the balanced way the NSGC guidelines spell out;
  • Provide her the contact information for her local Down syndrome support organization so she may contact a fellow parent if she so chooses.
  • If she remains undecided, counsel her on all THREE options, continuing, terminating, and ADOPTION, providing her information about the National Down Syndrome Adoption Network, again an approved resource by NSGC.
• If the mother decides to terminate her pregnancy, her MFM or GC will:
  • Discuss that procedure with her so she makes an informed decision;
  • Offer the contact information of a family who terminated, as recommended by NSGC;
  • NOT coerce her into making a different decision;
  • Provide her the list of resources recognized by NSGC to support women who have terminated.
• If the mother decides to continue her pregnancy, her medical team will:
  • All understand that it is her decision to continue so that each provider she interacts with doesn’t ask “are you sure,” or “you can still change your mind;”
  • She will be given a copy of Diagnosis to Delivery and be referred to downsyndromepregnancy.org where she can access on-line support for expectant moms;
  • She will be given the contact information for her local Down syndrome support organization which will have trained parents who had a prenatal test result ready to support and counsel her;
  • As her pregnancy progresses, her medical team will schedule ultrasounds and other tests to be prepared for any attendant health concerns and prepare a birth plan at an appropriate level hospital;
  • The mother will also receive “Your loved one is expecting a baby with Down syndrome” so she can provide it to her friends and family so they know how to support her during her pregnancy;
  • A social worker will begin working with her to arrange for early intervention and other social supports once her baby is born.
• When her child is born:
  • Her medical team will confirm whether the child needs any medical support and provide that support without hesitation;
  • Her OB will first say “Congratulations on the birth of your baby” and not “you didn’t have testing?”
  • Her pediatrician who greets her the next morning will first say, “Congratulations on the birth of your baby” and not begin with “let’s discuss the early onset of Alzheimer’s with Down syndrome.”
  • The geneticist who stands over the foot of her bed and wakes her and her significant other up will first say, “Congratulations on the birth of your baby,” and not find it relevant to share that more than likely the extra chromosome came from her egg.
  • The nursing staff will say “Congratulations on the birth of your baby,” not “I could never raise a child like that myself,” or, “you are special parents to have been chosen for this child.”
  • She will receive support from a lactation consultant if she chooses to breast feed and will be supported in that decision.
  • She will receive the resources recognized by NSGC following a birth like Babies with Down syndrome, and for the first month, Downsyndromepregnancy’s Welcoming a Newborn with Down Syndrome: A New Parent’s Guide to the First Month. She will also be told about The Parent’s Guide to Down Syndrome. 

It is exciting to report this news. That from now on this will be happening. It’s what the medical guidelines have recommended for years. Finally, there’s a commitment to make sure prenatal testing for Down syndrome is done right.

Of course, though, remember what today is: April 1st.

April’s Fools.

Things are getting better. Every day. We’re not to this point yet consistently, but progress is being made.

I’m grateful for the OBs, MFMs, GCs, Geneticists, nurses, midwives, social workers, and members of the media who do follow these recommendations to support expectant moms as they make these choices, with accurate information, support, and respect for their decision at each step.

This post was updated March 31, 2015, to reflect the ESHG/ASHG statement on NIPS and add the states that have joined the ranks of those that have enacted the Down Syndrome Information Act. 

This post was updated on April 1, 2016, to add updated links to professional guidelines and resources published since the original publication in 2014.