2023-04-30 09:06:47
Margot: “I had a DNA test done 15 years ago to find out which gene causes the condition. At the time, it was advised to consider PGT if you wish to have children. I have firmly planted that in my ears.” Margot and her partner report to Maastricht UMC+. Margot: “The waiting time for PGT is quite long and due to corona it even took a year and a half before it was our turn. My condition was found to be serious enough and a pre-implantation genetic test was developed. Then the IVF process finally started.” Unfortunately, the gynecologist signals a low response to the hormone treatment. Only one egg matures, too few to be harvested. “A big disappointment,” says Margot. “If research shows that we have less than a 1% chance of success in a subsequent process, we decide to stop using PGT. The only option for a child is to become pregnant naturally, with all the associated risks.”
Prenatal diagnosis
Clinical geneticist Dr. Vivian Vernimmen: “Split hand, split food, also known as ‘lobster claw deformity’, is a hereditary, congenital hand and foot defect. It is a rare condition whose severity cannot be predicted. Both men and women can get and transmit the condition. Margot got it from her mother, who herself has a milder form. Because PGT has too low a success rate for Margot, they have decided to conceive naturally. I have been able to guide them on this path.
A natural pregnancy naturally carries the risk of passing the condition on to the child. This can be investigated with prenatal diagnosis. Forms of prenatal diagnosis are chorionic villus sampling, amniocentesis and ultrasound. NIPT was not an appropriate method in this case. All pregnant women receive – if they wish – an ultrasound at 13 and/or 20 weeks. If there is a risk of a congenital disorder, the pregnant woman is eligible for a GUO ultrasound (advanced ultrasound examination). I took the couple through the different forms, the pros and cons and possible choices if the child turns out to be (seriously) affected.”
Margot: “Vivian guided us step by step through the process. Despite my reduced fertility, I was pregnant within two months. We have decided to have a chorionic villus sampling done in week 11. Although chorionic villus sampling carries a small risk of miscarriage, it quickly provides clarity as to whether the baby is affected or not.” Vivian: “However, the chorionic villus sampling does not say anything about the seriousness of the condition. This requires an ultrasound at 15 or 16 weeks. Only then can a decision on whether or not to terminate the pregnancy be made.”
Scenario’s
“There are many hurdles you have to take,” says Margot. “In the period between test and result, you are of course constantly weighing all options. We kept it close to ourselves, didn’t talk to anyone about it because we wanted to make a decision ourselves, without the influence of others. It is important that you as partners are completely open and honest with each other. You also get discussions like: suppose the child is only affected at the feet, what then? Because the child is so desired, you push your limits. All kinds of scenarios have passed. Fortunately, in week 16 it turned out that our son James was not affected. Otherwise we would have had an ultrasound around that time to assess the seriousness of the condition and then have to make a decision. I’m very glad it didn’t come to that.”
Vivian: “Conversations with a psychologist associated with the department are possible as part of this process. Margot was also supervised by a psychologist.” Margot: “It was great that this could be arranged, it helped me a lot. We also received an extra ultrasound on request. We look back on very nice care in which Vivian continuously kept a finger on the pulse and thought along with us. On the day the results of the chorionic villus sampling came in, her colleague called because she was not there that day. We received an app from Vivian at 10 o’clock in the evening with congratulations! Very special.”
Margot and Rutger are now fully enjoying their son James (1.5). “I was never very concerned with my condition,” says Margot. “The birth of James has changed that. I now speak much more openly about it and am even working on setting up national activities for children with hand and/or foot disabilities.”
#Prenatal #diagnosis #chance #success #PGT #simply #small