Genetic Disorders and the Fetus. Группа авторов

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Название Genetic Disorders and the Fetus
Автор произведения Группа авторов
Жанр Биология
Серия
Издательство Биология
Год выпуска 0
isbn 9781119676959



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Initially, PGT was based on polar body sampling and embryo biopsy at the cleavage stage, but the present standard shifted to blastocyst biopsy. The polar body approach is still, however, the only possibility for the ethnic groups where no embryos micromanipulation is allowed. The Preimplantation Genetic Diagnosis International Society (PGDIS) and the European Society of Human Reproduction and Embryology (ESHRE) Consortium have published an extensive set of best practice guidelines for PGT.26, 27 These recommendations cover PGT organization, genetic and treatment‐related counseling, psychologic evaluation, patient selection, all applicable technical issues, and quality control. The developments of preconception and PGT and the existing problems in the application of these early approaches to clinical practice are presented in this chapter, based on our 30 years' experience of over 22,000 PGT cycles, including 15,700 PGT‐A, 491 PGT‐HLA, and 6,778 PGT‐M, involving a spectrum of, approximately, 600 different monogenic conditions (Table 2.1).


Conditions Gene Type of inheritance No. patients No. cycles No. embryo transfers No. embryos transferred Pregnancy % No. deliveries
3‐Hydroxyisobutyryl‐CoA hydrolase deficiency (HIBCHD) HIBCH AR 1 1 1 2 0 0
3‐Methylglutaconic aciduria with deafness, encephalopathy, and Leigh‐like syndrome (MEGDEL) SERAC1 AR 1 1 1 1 0 0
Achondroplasia (ACH) FGFR3 AD 8 17 11 14 7 6
Achromatopsia 2 (ACHM2) CNGA3 AR 1 1 1 1 1 1
Achromatopsia 3 (ACHM3) CNGB3 AR 3 4 4 5 2 2
Acromesomelic dysplasia, Maroteaux type (AMDM) NPR2 AR 1 1 2 2 1 1
Acyl‐CoA dehydrogenase, medium‐chain, deficiency ACADM AR 3 8 7 14 4 4
Acyl‐CoA dehydrogenase, very long‐chain; (ACADVL) ACADVL AR 5 6 6 11 2 2
Adrenal hyperplasia, congenital, due to 21‐hydroxylase deficiency CYP21A2 AR 23 34 26 42 17 17
Adrenoleukodystrophy (ALD) ABCD1 XL 17 33 20 29 11 11
Agammaglobulinemia, X‐linked (XLA) BTK XL 4 7 7 13 3 3
Aicardi–Goutieres syndrome 5 (AGS5 + CF) SAMHD1 AR 1 2 2 2 1 1
Alagille syndrome 1 (ALGS1) JAG1 AD 1 1 1 1 1 1
Albinism, ocular, type i (OA1) GPR143 XL 1 12 5 9 4 3
Albinism, oculocutaneous, type ia (OCA1a) TYR AR 4 7 6 9 3 3
Albinism, oculocutaneous, type ii (OCA2) OCA2