Preimplantation genetic diagnosis (PGD) in the Netherlands
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作者:
Geraedts, Joep
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机构:
Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsMaastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands
Geraedts, Joep
[1
]
Coonen, Edith
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机构:
Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsMaastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands
Coonen, Edith
[1
]
Dreesen, Jos
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机构:
Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsMaastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands
Dreesen, Jos
[1
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机构:
Paulussen, Aimee
[1
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de Die-Smulders, Christine
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机构:
Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsMaastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands
de Die-Smulders, Christine
[1
]
机构:
[1] Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands
Preimplantation genetic diagnosis;
Transport PGD;
Embryo biopsy;
Single cell diagnosis;
The Netherlands;
HUNTINGTONS-DISEASE;
EMBRYOS;
D O I:
10.1007/s11825-016-0102-6
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
In 1995, preimplantation genetic diagnosis (PGD) was introduced on an experimental basis in Maastricht. Since 2003 it has been part of the licencing system of the Ministry Public Health, Welfare and Sport. PGD is only carried out for couples whose potential offspring are at risk of severe Mendelian disorders, structural chromosomal abnormalities or mitochondrial disorders. Preimplantation genetic screening, which is aneuploidy screening to improve medically assisted reproduction (IVF/ICSI) has never been part of the programme. In 2008 the government decided to create a National Indications Commission, which determines for which new diseases PGD can be carried out using a number of criteria: 1. severity and type of disease; 2. options for prevention and treatment; 3. additional medical criteria; and 4. psychological and ethical factors. Social sexing (family balancing for social reasons) is not allowed as is the case in most European countries. Saviour sibling diagnosis is only allowed in cases when PGD for a genetic disease is needed. HLA typing without PGD for a genetic disease is not allowed. The Maastricht University Medical Centre does all genetic diagnoses and has protocollised contracts for transport PGD with the University Medical Centre Utrecht, University Medical Centre Groningen and the Amsterdam Medical Centre. Between 1995 and 2015, a total of 2870 cycles were started in 1430 couples. The most frequent reason was Huntington disease followed by hereditary breast and ovary cancer. There are far more referrals and treatments for autosomal dominant diseases than for autosomal recessives. Among the latter, CF and SMA are the top indications. A total of 547 clinical pregnancies were obtained. The success of treatment is about 20 % per started cycle and about 25 % per embryo transfer. The number of treatments per couple is almost exactly 2.0.