В Германии можно?

А вот если у меня найдут в известныз экзонах, имеет ли смысл делать диагностику на раннем сроке (биопсию хориона)? Ну например, если ребёнок не унаследует моего дефектного гена-то будет ли это означать, что он не болен поликистозом? или тоже не гарантия?

EDUCATIONAL REVIEW
Diagnosis and management of childhood polycystic
kidney disease
William E. Sweeney Jr & Ellis D. Avner
Pediatr Nephrol (2011) 26:675–692
DOI 10.1007/s00467-010-1656-1
Due to the significant morbidity and mortality of
ARPKD, many parents of ARPKD children seek prenatal
genetic diagnosis (PGD). The two methods of mutation
detection for single-gene disorders include direct sequenc-
ing and linkage analysis. Direct mutation testing is
generally used when the genetic disorder is the result of a
single mutation that occurs in most affected families.
ARPKD, however, is the result of many different muta-
tions, and most families harbor private mutations [54]. As a
result, a customized assay must be developed for each
family. Due to the large number of mutations, the
development of mutation-specific protocols for PGD testing
in ARPKD is very expensive, labor intensive, and time
consuming.
Prenatal diagnoses of ARPKD based on PKHD1
mutation analysis have been successful [55], and clinical
gene-based testing as well as preimplantation genetic
diagnosis/in vitro fertilization (PGD/IVF) are available in
highly specialized centers.
In families with diagnostic uncertainties, the detection of
PKHD1 mutations by direct sequencing has been the only
option for accurate genetic counseling and prenatal diag-
nosis until recently.
A novel, reliable linkage-based protocol for preimplan-
tation genetic diagnosis of ARPKD using single-cell
multiple displacement amplification (MDA) products for
PKHD1 haplotyping has been developed that significantly
decreases the problem of allelic dropout [56]. This unique
protocol uses whole-genome amplification of single blas-
tomeres, MDA, and haplotype analysis with 20 novel
polymorphic short tandem repeat (STR) markers from the
PKHD1 gene and flanking sequences. This method enables
unambiguous identification of the PKHD1 haplotypes of
embryos produced by at-risk couples [56]. Further details
on the molecular diagnosis of ARPKD can be found at
GeneClinics: Clinical Genetic Information Resource (data-
base online) at http://www.geneclinics.org [57].