Introduction
Patients and Methods
Summary of the Standard Clinical Procedure
Pre-Test Counselling by a Senior Obstetrician
Disclosing the Prenatal Test Result
Inclusion for the Psychological Evaluation
Fetus | Participant | Age | Sex | Indication | Follow-up (months) | CNV (hg18) and inheritance |
---|---|---|---|---|---|---|
A | 1 | 41 | F | AMA | 9 | 15q11.2 (20,191,584-20,710,960) x1 mat |
B | 2 | 41 | F | aFTS | 13 | 22q11.21 (17,249,767-19,959,004) x3 ukn |
C | 3 | 35 | F | aFTS | 8 | 16p11.2 (29,548,278-30,171,562) x3 dn |
4 | 35 | M | ||||
D | 5 | 23 | F | aFTS | 15 | 15q11.2 (20,191,584-20,698,860) x1 ukn |
6 | 33 | M | ||||
E | 7a
| 38 | F | AMA | 4 | 15q11.2 (20,191,584-20,698,860) x1 dn |
8 | 37 | M | ||||
F | 9a
| 37 | F | AMA | 5 | 1q21.1 (144,959,767-146,307,651) x1 dn |
G | 10a
| 37 | F | aFTS | 3 | 15q11.2 (20,070,582-20,718,150) x1 mat |
11 | 38 | M | ||||
H | 12 | 39 | F | aFTS + AMA | 15 | 3q29 (197,141,069-198,793,022) x3 mat |
Array result | N | Incidences affected vs. controlsa
| Phenotypeb
|
---|---|---|---|
15q11.2 microdeletion | 4 | 0.60 % vs. 0.20 % (Cooper et al. 2011) 0.41 % vs. 0.37 % (Burnside et al. 2011) | |
22q11.2 microduplication | 1 | 0.21 % vs. 0.05 % (Kaminsky et al. 2011) | Intellectual disability, hypotonia, hearing loss, epilepsy, cardiac malformations, urinary tract anomalies, growth retardation, facial dysmorphism (Firth 1993) |
16p11.2 microduplication | 1 | 0.18 % vs. 0.02 % [32] 0.25 % vs. 0.04 % (Kaminsky et al. 2011) | |
3q29 microduplication | 1 | 0.0005 % vs. 0.00009 % (Kaminsky et al. 2011) | |
1q21.1 microdeletion | 1 | 0.35 % vs. 0.03 % (Kaminsky et al. 2011) 0.28 % vs. 0.018 % (Rosenfeld et al., 2013) | Intellectual disability, microcephaly, cardiac malformations, cataracts, schizophrenia, renal and urinary tract anomalies, autism (Rosenfeld et al. 2013) |
Measures
1. What was it like for you when you were told about the SL that was found? |
2. What was your first reaction? |
3. How do you feel about the SL at this very moment? |
4. Would you choose to be informed of SL again? |
5. Do you think that pregnant women should have a choice regarding the disclosure of SL? |
6. Please indicate on a scale of 1 to 10 how worried you are about the health/development of your child? (1 not worried at all - 10 very worried) |
Analysis
Nr. | 1 & 2. First reaction | 3. How do you feel about the SL now? | 4. Would you choose to be informed again? | 5. Pregnant women should have a choice? | 6. Assume child is healthy? | 7. Worried about health child (1–10) |
---|---|---|---|---|---|---|
1 | shocked | stigma | hesitant | yes | yes | 2 |
2 | shocked | not thinking about it often | yes | yes | yes | 3 |
3 | shocked | not thinking about it often | yes | yes | yes | 3 |
4 | worried | not thinking about it often | yes | yes | yes | 2 |
5 | shocked | not thinking about it often | yes | yes | yes | 6 |
6 | worried | not thinking about it often | yes | yes | yes | 3 |
7a
| shocked | not thinking about it often | yes | yes | yes | 7 |
8 | shocked | not thinking about it often | yes | yes | yes | 6 |
9a
| worried | not thinking about it often | hesitant | yes | yes | 1 |
10a
| worried | not thinking about it often | yes | yes | yes | 2 |
11 | worried | not thinking about it often | yes | yes | yes | 3 |
12 | worried | not thinking about it often | yes | yes | yes | 2 |
Results: Participant’s Narratives
Initial Experience when the SL was Disclosed
Question 1 and 2
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What was it like for you when you were told about the SL that was found? What was your first reaction?
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Quotes of parents who were worried (7 out of 12)‘It startled me, you just don’t want to hear that about your baby. But I thought that our baby would develop normally, maybe a bit slower than others, but healthy in the end.’ (Participant 2, female)‘It was unpleasant, because we thought everything would be fine. Thus far, it appears as such.’ (Participant 4, male)‘We were a little shocked at first, but we understood that there was only a very small chance that something could really be wrong. So we were not too worried.’ (Participant 6, male)‘We were a bit upset the first days. When we had an advanced ultrasound, everything looked normal, that was a relief to us.’ (Participant 8, male)‘It came very unexpectedly, I was a little overwhelmed, but I wasn’t really, really alarmed.’ (Participant 10*, female)‘At first we were not too alarmed, because the baby did not have Down syndrome. But we felt the SL diagnosis was slightly worrisome, because we did not know what we could expect at all.’ (Participant 11, male)‘I was upset, because they could not tell me exactly how high the risk of developing the clinical features was. I just sat there stared at the geneticist and asked what it was, and if it was dangerous.’ (Participant 12, female)
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Quotes of parents who were shocked (5 out of 12)‘To us, it was very unclear at first. We heard something was wrong and it came as a shock, I was nervous. When we had an appointment with the geneticist to talk about it, we understood that the risk was quite low. I thought; ‘we’ll have to wait and see’, but my husband was really worried. There was a picture of a patient with the same deletion, clearly showing something was wrong. This was very upsetting to us. We didn’t really know what to do with the provided information. I wasn’t expecting it and did not think about the possibility of this kind of outcome when we engaged in prenatal diagnosis, only about the possibility of a trisomy. Maybe our older daughter has this deletion too, but she is a healthy, normal girl.’ (Participant 1, female)’That was a real shock. It was quite upsetting. We thought; What is going to happen next? It was not a very nice time.’ (Participant 3, female)‘We were startled, it was quite something. But we were informed of the possibility of such results.’ (Participant 5, female)‘Unpleasant. It came as a shock. We did an amniocentesis hoping to hear that everything is alright, and then this susceptibility locus came as a test result. I was very emotional.’ (Participant 7*, female)‘That was a real shock. It was not clear what was wrong, that made me worry a lot. The more I thought about it, the more worried I became. I had a lot of questions. I kind of panicked. Luckily, we had an appointment with the geneticist the next day. After that, I felt calmer.’ (Participant 9*, female)
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Question 3: How do you Feel About the SL at This Very Moment?
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Quotes of parents that do not think about it often anymore (11 out of 12)‘I don’t think about it too much now.’ (Participant 2, female)‘I don’t think about it anymore. I think I just have a normal, healthy son.’ (Participant 3, female)‘I don’t look back on it. I gave birth to a healthy son. ‘(Participant 4, female)‘I like to think that nothing is wrong. At the moment, I don’t see any reason to think there is. ‘(Participant 5, male)‘During pregnancy I was worried about other physical abnormalities. But now that I gave birth, I am not worried anymore.’ (Participant 5, female)‘I don’t think about the SL anymore. I think I coped with the information quite well.’ (Participant 6, male)‘Most abnormalities were excluded with expert ultrasound examinations. We are only unsure of other neurodevelopmental symptoms like behavioural problems. But we think everything will be fine.’ (Participant 7*, female)‘After the expert ultrasound examinations we felt reassured. The SL does not have to mean anything.’ (Participant 8, male)‘I think the chance of expression of the SL is very small. And if it will express itself, I think it will be mild and actionable.‘(Participant 9*, female)‘We will have to wait and see. I think it is nothing very severe, since I carry it myself and do not have any symptoms. I am not too worried anymore.’ (Participant 10*, female)‘I think it might be something very mild. My wife has it too. Maybe we will not even notice it. ‘(Participant 11, male)‘I do not see anything out of the ordinary regarding my daughter at this point.’ (Participant 12, female)
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Quote of a parent that experienced a stigma (1 out of 12)‘It is something that you keep carrying with you. If she behaves weirdly, then I immediately think that this behaviour is related to the SL. I also do not like the fact that she already had a medical file before she even was born.‘(Participant 1, female)
Question 4: Would you Choose to be Informed of SL Again?
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Yes (10 out of 12 parents)‘I want to know as much as possible. That is the reason I chose for invasive prenatal diagnosis in the first place.’ (Participant 2, female)‘Yes, even though it was distressful when we first heard about the susceptibility locus. But if something might be wrong with your child, you want to know about it.’ (Participant 4, male)‘If I could choose, than I would like to know.’ (Participant 6, male)‘Absolutely.’ (Participant 8, male)‘Yes, I think so, because I prefer to know as much as possible. ‘(Participant 10*, female)‘Personally, I want to know everything, but I have an academic degree. I can imagine that this kind of information might be very confusing for people with a lower educational level.’ (Participant 11, male)‘Of course. Especially with regards to my advanced maternal age.’ (Participant 12, female)
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Hesitant (2 out of 12 parents)‘If I would get pregnant again, I might not want to know. But in this pregnancy, I would not want to have missed this information.’ (Participant 1, female)‘It depends if it really matters. It did give us a lot of stress, because we thought it was something very severe at first. But I would be very curious in the future (next pregnancy). A friend of mine, who had children at a young age, did not have any genetic information about her children at all. But her son has a neurodevelopmental disorder and she did not know about it in advance. It can be useful, because you know where it might come from.‘(Participant 9*, female)