Pregnancy and Infant Loss Remembrance Day
October 15 is Pregnancy and Infant Loss Remembrance Day, a day to recognize and honor those affected by miscarriage, stillbirth, SIDS, ectopic pregnancy, pregnancy termination for medical reasons, and newborn death. Each of these challenges profoundly impacts those who experience them. This article focuses on miscarriage and its connection to Turner Syndrome (TS).
Miscarriage often brings a range of emotions for those in its shadow, from sadness to anger, guilt, loneliness, anxiety, depression, and beyond. Although people who experience miscarriages often feel alone, it is a relatively common experience. Miscarriage is the most frequent pregnancy complication in America, with up to one million cases occurring annually (Bardos et al., 2015). Those with Turner syndrome (TS) often experience miscarriage, along with an array of other fertility and reproductive challenges.
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TS is associated with impaired production and development of eggs for fertilization, processes called oogenesis and folliculogenesis. People with TS produce a higher rate of abnormal eggs, which negatively impacts fertility. In an email, Kutluk Oktay, a Yale University professor and former TSF Professional Member, explained that people with TS lose their ovarian reserve, or supply and quality of eggs, faster than people without TS. Those with non-mosaic TS may deplete their ovarian reserve before reaching puberty, he explained.
Non-mosaic TS occurs when a person has a complete lack of the X chromosome. This is also known as classic TS and occurs in the majority of people with TS. Mosaic TS occurs when some of the person’s cells have one X chromosome and others have two X chromosomes.
A study conducted in the United Kingdom on 81 women with TS estimated that for people with TS, pregnancies occur without the use of assisted reproductive technologies (ART) at an incidence between 2% and 7%. The miscarriage rate in people with TS is about 31% (Porcu, Cipriani, and Damiano, 2023).
Why Do Miscarriages Occur in Those with TS?
Miscarriages occur frequently in people with TS for several reasons, which are not completely understood. The babies may have a higher rate of chromosomal abnormalities, which are atypical changes to their DNA. Some studies have reported higher rates of trisomy 21, also called Down syndrome, in these pregnancies. There is also a higher incidence of congenital malformations, which may be associated with structural or functional changes (Porcu, Cipriani, and Damiano, 2023).
Uterine changes in people with TS may also contribute to the higher incidence of miscarriage. A significant rate of miscarriages occurs in pregnancies in people with TS achieved through oocyte donation, indicating that the uterus may play a significant role. The uterus may have an abnormal structure, reduced development, or an impaired blood supply. Additionally, the uterus may show reduced endometrial receptivity (Porcu, Cipriani, and Damiano, 2023).
What Strategies Support Fertility and Reproduction with TS?
TS is associated with a constellation of fertility and reproductive challenges, but many are working to find solutions. It is important for people with TS to be aware of the increased risks associated with pregnancy, including miscarriage, chromosomal abnormalities, and health risks to the pregnant person. These health risks include cardiovascular events like aortic dissection.
Assisted reproductive technologies (ART) can help people with TS become pregnant. Using donated eggs is one option for people with TS. With the increased health risks to pregnant people with TS, experts recommend transferring one embryo at a time to reduce the chance of multiple pregnancies. People with TS may also consider surrogacy as an option.
Dr. Oktay emphasized that fertility preservation is important for people with TS. This can be accomplished through techniques that freeze embryos or ovarian tissue for future use. He also explained that hormone replacement and IVF techniques with genetically screened embryos may help reduce rates of miscarriage in people with TS.
Coping With Miscarriage of a Baby with TS: Lydia’s Story
This article thus far has focused on people with TS who experience infertility challenges or miscarriages. People without TS can also relate to the connection between TS and miscarriage. It is possible, and even common, for people without TS to experience a miscarriage of a baby who is diagnosed with TS. An estimated 15% of all miscarriages are babies with TS. Lydia is one mom who lost a baby girl named Ellis with TS in early 2024 and has found purpose in sharing their story.
At her first medical appointment for the pregnancy, Lydia received the news that her baby’s heart rate was unusually high and that she would likely experience a miscarriage.
Lydia agreed to genetic testing, and after two weeks, her baby was diagnosed with TS. Ellis, who Lydia described as “a fighter,” continued growing and Lydia even felt her kicks.
At their 20-week medical appointment, Lydia learned that Ellis had passed. Lydia wrote, “This was one of the hardest days of my life. Carrying a child for 20 weeks, feeling them move, seeing them grow. It was hard to not let myself think, ‘maybe she will be in the 1% that makes it.’” Although Lydia received confirmation of Ellis’s death at the appointment, she had suspected that Ellis passed about a week before. She recalled sharing her suspicions with her husband and feeling scared to lose the baby and doubtful of her ability to recover from the loss. She wrote, “At that moment, I said a prayer that my blinders would be down and that I would be able to see God’s plan. I prayed to see God at work. I prayed to not feel alone.”
Lydia continued her pregnancy for nearly two weeks after Ellis had passed, weeks she described as “so dark.” Looking and feeling pregnant while being aware that Ellis was no longer living was confusing.
Lydia said that talking about baby Ellis has helped her cope. “I wanted the world to know her story because she is so important to me,” she said. Many months after the loss of Ellis, Lydia said that she now sees a purpose in the experience. Ellis’s story has raised $45,788 through the “Strikeouts for Ellis” campaign and the “Rays Up for Turner Syndrome” online auction. Lydia has also received many letters from others who are grateful that their family shared Ellis’s story. She said, “Her story has helped people feel seen and heard. Her story has strengthened a community. We are so proud of her story and this community of people.”
We are so grateful to Lydia and her family for sharing Ellis’s story with the Turner Syndrome Foundation.
Support for Experiencing Miscarriages
Several organizations provide support to people who have experienced or who are experiencing miscarriage. Postpartum Support International has programs and services, including a helpline in English and Spanish (Postpartum Support International, n.d.). Healthcare providers can provide support and connect patients to qualified therapists, psychologists, or psychiatrists.
The Turner Syndrome Foundation also has resources for people with TS who are struggling with infertility and miscarriage. TSF published a guide about how to talk about infertility. Sara also shared about her miscarriage of a baby girl who had TS.
References:
Bardos, J., Hercz, D., Friedenthal, J., Missmer, S. A., & Williams, Z. (2015). A National Survey on Public Perceptions of Miscarriage. Obstetrics & Gynecology, 125(6), 1313–1320. https://doi.org/10.1097/aog.0000000000000859
Calanchini, M., Aye, C. Y. L., Orchard, E., Baker, K., Child, T., Fabbri, A., Mackillop, L., & Turner, H. E. (2020). Fertility issues and pregnancy outcomes in Turner syndrome. Fertility and Sterility, 114(1), 144–154. https://doi.org/10.1016/j.fertnstert.2020.03.002
Porcu, E., Cipriani, L., & Damiano, G. (2023b, December 5). Reproductive Health in Turner’s syndrome: From puberty to pregnancy. Frontiers in endocrinology. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10728473/#:~:text=Turner%27s%20syndrome%20and%20fertility&text=Spontaneous%20pregnancies%20in%20women%20with,a%203.8%25%20rate%20of%20aneuploidy.
Tarani, L., Lampariello, S., Raguso, G., Colloridi, F., Pucarelli, I., Pasquino, A. M., & Bruni, L. A. (1998). Pregnancy in patients with Turner’s syndrome: Six new cases and review of literature. Gynecological Endocrinology, 12(2), 83–87. https://doi.org/10.3109/09513599809024955
Written by Kelly Carroll, TSF volunteer blog writer. Personal story by Lydia Fairbanks. Edited by Riya Ajmera, TSF Blog Coordinator, and Victoria Brown, TSF volunteer blog writer. Peer-Reviewed by Mary Gwyn Roper, MD and Kayla Ganger, PA-C. Designed by Riya Ajmera. Cover Graphic by Kesha Amin, TSF volunteer graphic designer.
© Turner Syndrome Foundation, 2024
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