Four and a half years ago, pregnant Katrin Ruby got the terrible news: the baby growing in her belly is suffering from spina bifida. She visits the neurosurgeon Dr. Heidrun Bächli in Heidelberg, who operates on the fetus using a method that is new in Europe. How are child and mother doing today?
All expectant parents only have one wish: the baby should be born healthy. Unfortunately, this wish didn’t come true for Katrin Ruby. When her pediatrician told her the diagnosis of her growing baby in 2016, she was at first shocked and then helpless: spina bifida aperta. She had never heard of this.
She is a scientist, just like her husband. They both work as teachers at a school in Mecklenburg-Western Pomerania. They look for information about the illness on the internet. And find out, that there are many mothers in Germany with the same story.
Spina bifida occurs on average in one out of 1,000 children. There are two different types: spina bifida apera (open back) and spina bifida occulta (closed back). The latter type develops without symptoms because neither the spinal meninges nor the spinal cord are involved. Only the vertebral arch is split, which is sometimes detected by chance in an x-ray after birth. However, this type of spina bifida often remains undetected.
Unfortunately, Katrin Ruby’s fetus has the far more severe type of spina bifida aperta. A split has formed in the spine through which parts of the spinal cord, the spinal meninges and nerves can protrude in a cyst. Her son could have troubles walking, maybe he would even be paraplegic, the pediatrician says. Incontinence and a hydrocephalus are additional consequences of the malformation.
Patients Suffering from Spina Bifida Aperta and Spina Bifida Occulta in German Hospitals
Katrin Ruby is 30 years old before the birth of her child. She took folate during her pregnancy, that is not the problem. A folic acid deficiency increases the risk of the disease. She doesn’t know why it had to be her. The causes of spina bifida are little studied. Researchers assume that it is a combination of genetic and environmental factors. Nine out of ten mothers opt for an abortion when diagnosed with spina bifida aperta.
Katrin Ruby and her husband Sebastian decide against abortion and start to gather information on the internet. They read about the possibility of prenatal surgery where the baby is operated on in the belly of the pregnant woman. Katrin Ruby’s sister draws her attention to the Moms-Study which was conducted between 2003 and 2011 at three hospitals in the USA. In this study, pregnant women with a fetus suffering from spina bifida aperta were divided into two groups. The women in one group were operated on openly during pregnancy. In the other group, the gap in the spine was only closed after birth. The researchers examined the children two times, after 12 months and after 30 months.
The advantages of the prenatal surgery were so clear that the study was interrupted early. Infants that were operated on in the mother’s womb were more frequently able to walk freely (42 percent, for postnatal surgeries it was 21 percent), less often developed a hydrocephalus (40 percent vs. 82 percent) and suffered less often from a Chiari malformation type 2 which causes speech disorders, headache and other neurological complaints (4 percent vs. 36 percent). However, the preterm birth rate has increased with prenatal surgery (79 percent, for postnatal surgery it was 15 percent). In addition, injuries of the mother such as damage to the uterus were more frequent (46 percent vs. 8 percent).
Children with Prenatal Surgery Have Less Complaints Later On
Katrin Ruby is convinced by the results of the study. She looks for a clinic which performs prenatal surgery and find the University Hospital Heidelberg. Private lecturer Dr. Heidrun Bächli was the only doctor in Germany who offered open prenatal surgery for spina bifida based on the American model. The Rubys don’t know that Bächli has never performed the surgery when they get into the car and drive across Germany. Time is short. The surgery is not possible after the 26thweek of pregnancy.
“Katrin Ruby was very well informed about the new surgical method”, the trained neurosurgeon Bächli, who works at Cologne University today, remembers. Bächli prepared a long time for her first surgery. In 2015, she went to the US with her team to visit the St. Louis Fetal Care Institute and to get a live demonstration of the surgery. After that, she sat together with prenatal doctors, gynecologists, neonatologists, anesthetists and other pediatric neurosurgeons to discuss the intervention in the mother’s womb.
Before the surgery in the spring of 2016, American colleagues who bring experience and knowledge and are present during the surgery are flown in for safety.
For the intervention, the gynecologists open the uterus with an eight-centimeter-long cut. The fetus is carefully turned around so that the open back is accessible and it gets a separate anesthesia. Then, Bächli closes the spinal cord, meninges and skin layer by layer. After four hours the surgery is over. “Everything went well and without complications”, Bächli remembers today.
Katrin Ruby can still recall how excited she looked at the screen during the ultrasound examination on the evening after the surgery. And how relieved she was that her son’s legs were moving because the anesthetics already don’t act anymore in the small body.
Thomale: “I think it is a Reasonable Alternative”
“Spina bifida is one of the most severe malformations in children which doesn’t endanger the child’s life”, says Prof. Dr. Ulrich-Wilhelm Thomale, director of the pediatric neurosurgery of the Charité. There are numerous symptoms that will accompany the child for life, such as bladder and bowel control problems, paraplegia or accumulations of cerebrospinal fluid in the head which has to be drained with the help of a shunt. But he also believes that open prenatal surgery is a good option. “I think it is a reasonable alternative. Thanks to the MOMS-study, there is solid data for the open surgical method. However, the mother always takes a risk.” Heidrun Bächli operated on 13 further women after the first surgery on Katrin Ruby. Now, she wants to form a team at the University Hospital in Cologne. While she has been using the open surgery method for four years, there is another procedure which is offered in Germany.
Prof. Dr. Dr. Thomas Kohl, director of the German Center for Fetal Surgery & minimally invasive therapy (DZFT) of the University Medicine Mannheim, has been performing surgery for 18 years on pregnant women which have a baby suffering from spina bifida in their womb. However, he doesn’t use the American open surgery method but a keyhole technique he developed himself.
For his surgical method, three little plastic tubes with an outside diameter of 4 mm are inserted into the amniotic sac of the pregnant woman. Through this tube, the 58-year-old fetal surgeon inserts an optical system as well as different tools with which the open spinal cord of the child is prepared and then covered with a waterproof patch. “The operation trauma for the woman is incomparably smaller for the minimally invasive method than for open fetal surgery”, Kohl explains. “After all, the surgery only requires three to four punctures into the stomach and the uterus with needles with a diameter of only 1,2 mm”.
Open Method vs. Minimally Invasive Method
During the first years, his technically very challenging method was controversial. In an article by the German magazine Spiegel, he was presented as a doctor who values scientific research more than a growing child. A reason for that was that three of the first 19 fetuses died. Meanwhile, his minimally invasive surgical method has become an established intervention. Kohl received the titles of honorary professor from the universities of Istanbul and Shenjing for his contributions to fetal surgery. “In the last 210 surgeries, not a single child has died and the neurological results for the children are comparable to those in open surgery”, Kohl says.
Recently, he proved the latter in a follow-up examination: Kohl operated on 72 women and children between October 2010 and August 2014, 52 of these children took part in the retrospective study. “You don’t know whether the first series looks as good as the one presented in the examination”, says Prof. Thomale from the Charité, “also, the current results haven’t been collected within the framework of a prospectively controlled study and the mortality rate is slightly higher, however, the neurological results are absolutely up to the standard of the MOMS-study.”
However, the follow-up treatment of Kohl’s patient was incomplete in the initial phase: “The further monitoring of the children regarding hydrocephalus and possible adhesions of the spinal cord remains indispensable”, says Thomale. A point in Kohl’s favor is his experience and the careful intervention in his surgery through small incisions.
Minimally invasive or open surgery, in general, Bächli, Thomale and Kohl are in agreement: prenatal surgery evidently decreases the child’s complaints and is therefore preferable to postnatal surgery.
Nevetheless, it is not a guarantee that the child will be healthy. It differs from child to child in how far its life will be impacted by spina bifida. Sometimes, the complaints don’t start in early childhood but only during adulthood. Some affected persons can still move normally, others have to sit in the wheelchair their whole life. The further up the malformation occurs in the spinal column and the more nerves are affected, the more severe the disease.
The Ruby Family
Katrin Ruby’s son is four years old today. On his birthday in August, he wasn’t able to walk, but he happily crawled after his friends at his birthday party. A hip surgery is coming up soon because the hip sockets are not developed. The club feet were operated after birth. The bowel and bladder empty themselves so that the four year old still has to wear diapers. He doesn’t have a hydrocephalus though, it was prevented by prenatal surgery. Everything is fine neurologically. He is a curious and talkative four year old boy. Katrin Ruby doesn’t know whether her son will be able to walk independently and whether the incontinence will be cured.
The worries about her son decreased with the years. They got used to the constraints. In addition, the year 2020 is a special one for the family, not due to Covid-19 but because a new addition to the family is on the way. Katrin Ruby says that she sometimes has bad thoughts. But until now, all preliminary examinations show that her daughter will be healthy.
From time to time, she sent pictures of her son to Dr. Bächli and visited her in Heidelberg for follow-up examinations. Would she have done it differently today? No. After she decided against abortion, prenatal surgery was the next logical step. Her son isn’t healthy but his complaints are smaller thanks to the surgery.