Why does my doctor seem to want me to have an abortion because my baby has Trisomy 13?
When a pregnant woman and her family are told that their unborn baby has trisomy 13 and then it is confirmed through an amniocentesis or other prenatal diagnostic testing, it means that they are suddenly moved from a happy expectant place into a scary world of uncertainty, numbers, and frightening medical complications. Words such as lethal or ‘incompatible with life’ may be used. In most situations, a doctor is not telling a woman to end her pregnancy, but they will give their opinion based on their medical knowledge and past experience. However bleak the possible outcomes, the doctor, genetic counselor, and medical team should respect that it is that family and that pregnant woman's choice to continue the pregnancy until term or not. It may help to talk to friends, family, doctors and faith leaders, before making a choice based on individual circumstances. It may help to reach out to organizations such as the SOFT support organization at http://trisomy.org. If a healthcare professional does not seem to be respecting or supportive of a pregnant woman's decisions related to her pregnancy, then it is okay to seek another care team. Before changing care teams though it is best to discuss any concerns with the current doctor and team to determine if they are unknowingly pushing towards one decision or another.
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What support resources are available for women during their pregnancy who are expecting a baby affected by Trisomy 13?
If a diagnosis of trisomy 13 has been confirmed through amniocentesis or CVS, support resources are available to help them as they carry their baby until birth. One of the best sources of support is perinatal hospice. Some areas have a perinatal hospice program associated with their medical centers or nearby. One such listing can be found on PerinatalHospice.org (http://www.perinatalhospice.org/list-of-programs.html). This same website provides lists of support, parent stories, birth plans, and suggestions that can be very helpful at http://www.perinatalhospice.org/resources-for-parents.html. Specific to families whose unborn baby has been diagnosed with a trisomy like trisomy 13, the SOFT organizations in the United States and United Kingdom have practical suggestions, support, stories, and ideas on their websites on pages such as http://www.soft.org.uk/Help-for-Families/Decisions-During-Pregnancy/Continuing-with-your-Pregnancy. It can be very helpful to talk to another family who has been in a similar situation and carried their baby with trisomy 13 until birth. Feel free to talk with your OB-Gyn, genetic counselor, or reach out to SOFT if you are interested in talking with another family.
I lost a baby to Trisomy 13, should I try to conceive again?
The loss of any pregnancy is devastating and then to have unanswered questions in your mind about chromosomes and age probably doesn't help. Here are some thoughts for you that hopefully will ease your mind a little. The first is that women and couples of all ages can have babies with extra chromosomes. In fact, many people well under 35 years old who have experienced miscarriages in the first 13 weeks of pregnancy have had babies with extra chromosomes that wasn't diagnosed. The ability to do a more reliable blood test for chromosomes has changed our ability to understand how many more babies actually have extra chromosomes over the past few years due to NIPT. The second is that crossing the "35 line" does not mean all your eggs have extra chromosomes.
The best thing would be to talk to a genetic counselor in your area. The genetic counselor can look at your baby's results, talk to you about the type of Trisomy 13 that he had, talk about preconception/prenatal testing, and then discuss the chance of it happening again. You are not too old to have another baby, but you need to go in "armed with knowledge" that a genetic counselor can give you. (Take a look at "Find a Genetic counselor" in your area http://nsgc.org/p/cm/ld/fid=164 )
There are some amazing folks out there who have lost a baby to Trisomy 13 and are very open to talking to you at support sites like SOFT (http://trisomy.org/).
If you are a reader, there are a few books that can be so helpful during a time of loss:
Sunshine After the Storm: A Survival Guide for the Grieving Mother (https://www.amazon.com/gp/product/0989934713/ref=as_li_tl?ie=UTF8&camp=1789&creative=%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%209325&creativeASIN=0989934713&linkCode=as2&tag=aheartbreakingchoice-20&linkId=LLH4HHIDFYC253AD)
Empty Arms: Coping With Miscarriage, Stillbirth and Infant Death (https://www.amazon.com/gp/product/0960945660/ref=as_li_tl?ie=UTF8&camp=1789&creative=%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%209325&creativeASIN=0960945660&linkCode=as2&tag=aheartbreakingchoice-20&linkId=2GEPDCBQDV4UQZ7A)
- Ask a ThinkGenetic Counselor, August 29, 2016
What is the controversy on performing surgery on children with Trisomy 13?
Historically, it has been a challenge for parents of children with trisomy 13 to acquire some necessary interventions needed to extend life. This could be surgically correcting a heart defect or even resuscitating (reviving to prevent death) a child with trisomy 13. There has been more push back to these conventions in recent years.
The main arguments for minimal intervention include:
- Most babies with trisomy 13 do not live past infancy. Around 90% - 95% of children do not make it past the first year.
- Questions about the quality of life for the infant
The main arguments against minimal intervention include:
- Parents love their child deeply regardless of any diagnosis and should be allowed to provide them with standard medical care
- A number of children do survive past the first year of life (5% - 10%)
- Cereda, A and Carey, J.C. The trisomy 18 syndrome. Orphanet J Rare Dise. 2012; 7:81
- Adv Clin Exp Med. 2015 Sep-Oct;24(5):911-21. doi: 10.17219/acem/26324.Medical and Ethical Considerations Related to Viable Fetuses with Trisomy 13 in the 36th Week of Pregnancy--a Review of the Literature.Pawelec M1, D?ugalik M2, Pietras J2, Be?za ?1, Latkowski ?1
What is the chance for a pregnancy with Trisomy 13 to miscarry?
A large number of babies with trisomy 13 will die while still in the mother's womb and be born still. Studies suggest a 44-66% risk for fetal death in utero when the baby has trisomy 13, most often late in the 2nd trimester or early in the 3rd trimester of pregnancy. The chance for survival to delivery increases with gestational age.
- Cereda, A and Carey, J.C. The trisomy 18 syndrome. Orphanet J Rare Dise. 2012; 7:81
Is prenatal testing available for Trisomy 13?
Prenatal testing is available for trisomy 13. With prenatal diagnosis, baby DNA is tested during the pregnancy to determine whether the baby has trisomy 13. The fetal DNA sample is gathered through either an amniocentesis or chorionic villus sampling (CVS). An amniocentesis involves collecting some of the amniotic fluid surrounding the baby with a needle guided by an ultrasound. Fetal skin cells are in that fluid. A CVS involves collecting some of the placental cells, which typically are the same as the cells of the baby. A CVS procedure can be performed as early as 11 weeks of the pregnancy while an amniocentesis is generally offered after 15 weeks of the pregnancy.
Some families may like to have a diagnosis before birth to help them prepare for the delivery. Other families may make a decision about termination from prenatal diagnostic testing results. There are benefits, limitations, and risks to both of these procedures.
- Obstet Gynecol Surv. 2016 May;71(5):295-300. doi: 10.1097/OGX.0000000000000304.Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18.Dotters-Katz SK1, Kuller JA2, Grace MR1, Laifer SA3, Strauss RA4
Is preimplantation genetic diagnosis available for Trisomy 13?
Preimplantation genetic diagnosis (PGD) is available for trisomy 13. PGD allows for parents to only implant embryos into the mother’s uterus that do not have trisomy 13. PGD is an option when mothers are using in vitro fertilization (IVF). A woman's egg cells are retrieved and fertilized in a petri dish with sperm cells. After growth for 3-5 days, one cell can be biopsied, and the genetic make up can be studied. Embryos with trisomy 13 (or other chromosome problems) would not be used for implantation into the mother's uterus, thereby minimizing the chances of having a baby affected with trisomy 13. IVF and PGD can be costly (both financially, time consuming and emotionally) but for families with infertility, these procedures can help them have healthy babies. IVF is not guaranteed to lead to pregnancy every time.
- Biomed Res Int. 2016;2016:7193075. doi: 10.1155/2016/7193075. Epub 2016 Jan 28.The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis.Cimadomo D1, Capalbo A2, Ubaldi FM2, Scarica C1, Palagiano A3, Canipari R4, Rienzi L2.
- J Steroid Biochem Mol Biol. 2016 Apr 21. pii: S0960-0760(16)30069-3. doi: 10.1016/j.jsbmb.2016.03.022. [Epub ahead of print]Preimplantation diagnosis and other modern methods for prenatal diagnosis.Simpson JL1, Rechitsky S2
Can noninvasive prenatal testing (NIPT) be used for Trisomy 13?
Noninvasive prenatal testing (NIPT) is available for trisomy 13. NIPT is a screening option for pregnant women. This newer blood screening test has been available since 2013. Most laboratories offering this test state that the test identifies about 90% of pregnancies affected with trisomy 13. This test evaluates pieces of placental DNA that are outside of cells and are in the mother's blood. Parents are recommended not to make permanent decisions about the pregnancy solely based on NIPT results. Diagnostic testing like chorionic villus sampling (CVS) or amniocentesis can confirm or rule out a screen result. More research needs to be conducted to better understand and improve the accuracy of this test.
- Benn, P., Cuckle, H., and Pergament, E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42:15-33
- Am J Obstet Gynecol. 2016 Jan 7. pii: S0002-9378(16)00005-3. doi: 10.1016/j.ajog.2016.01.003. [Epub ahead of print]Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma.Benn P1
- J Assist Reprod Genet. 2014 May;31(5):589-94. doi: 10.1007/s10815-014-0182-7. Epub 2014 Feb 5.Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing.Liu XY1, Zhang HG, Wang RX, Chen S, Yu XW, Liu RZ.
- N Engl J Med. 2015 Apr 23;372(17):1589-97. doi: 10.1056/NEJMoa1407349. Epub 2015 Apr 1.Cell-free DNA analysis for noninvasive examination of trisomy.Norton ME1, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ, Wapner RJ.
Are there any support resources for women who have terminated a baby with Trisomy 13?
There are support groups for women who have decided to not continue a pregnancy for a baby with trisomy 13. They include:
A Heartbreaking Choice (http://www.aheartbreakingchoice.com)
Our Heartbreaking Choices (http://www.ohcbook.com/support-resources/online-grief-and-loss-support/)
Ending a Wanted Pregnancy (http://endingawantedpregnancy.com)
Is termination of the pregnancy, or abortion, an option if my baby has Trisomy 13?
If a diagnosis of trisomy 13 has been confirmed through amniocentesis or CVS, some families will consider termination. This can be the right decision for some families despite it possibly being very difficult. Different states will have restrictions on when a pregnancy termination procedure can be performed. A reproductive genetic counselor can help you better understand the options for your specific state.
FindLaw is an online service that describes the laws regarding abortion for different states (http://statelaws.findlaw.com/family-laws/abortion.html). This can be a useful starting point for understanding the laws in your state. It is important to note though that new laws/restrictions are continually being enacted so the information on this site may not be up to date.