California PGD Center Sex Linked Genetic Disease
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Preimplantation Genetic Diagnosis- Screening for Genetic Diseases

 
Preimplantation genetic diagnosis for screening sex linked genetic diseases, identifying damaged chromosomes, and gender selection, has been in use in the United States for several years with excellent results. Review the history of PGD for a concise overview of how PGD came into widespread use. Preimplantation genetic diagnosis permits the screening of embryos for several specific genetic diseases in addition to gender selection for sex linked genetic diseases. Not all genetic diseases can be screened but the list of those that can continues to grow.

Preimplantation genetic diagnosis, can help identify many genetic abnormalities before the embryo is transferred to the uterus. Genetic errors arise from deletions or insertions of genetic material, abnormal numbers of whole chromosomes or genes, and even from misplacement of a single base in the DNA sequence. Genetic abnormalities can range from relatively harmless to severe; from vitamin deficiencies and food allergies to cancer, birth defects and increased infant mortality.

PGD, and other significant advances in technology, have enabled researchers to trace many disorders and diseases to their roots in the genetic code. Chromosome stretches, or even isolated genes, can now be used as markers to identify individuals at risk for certain illnesses.

Gender selection using PGD to screen for sex linked genetic diseases has become an effective procedure to diagnose many genetic diseases. Oftentimes, genetic abnormalities are not gender related and PGD can screen for damaged or translocated chromosomes, aneuploidy (abnormal number of chromosomes) and other defects The ability to recognize genetic warning signs is rapidly becoming the most effective tool for prevention, diagnosis, and treatment of genetically based disorders. An estimated 60 percent of all naturally occurring reproductive losses in pregnancies are associated with chromosomal abnormalities in the embryo.

A normal embryo has 22 pairs of chromosomes called autosomes and 1 pair of sex chromosomes (XX or XY). Embryos that do not carry the normal pair of each chromosome are called aneuploids. Those that contain three copies of a particular chromosome (Trisomy) are the cause of some genetic disorders such as Down's syndrome (Trisomy 21). There are other less common trisomies of chromosomes 13, 16, 18 and 22. Embryos that contain only one copy of a chromosome (Monosomy) are by and large nonviable.

PGD and genetic analysis can differentiate abnormal aneuploid embryos, either with monosomy (one missing) or trisomy (an extra one), which are usually normal in appearance. It is not possible to distinguish these morphologically from other embryos. Without preimplantation genetic diagnosis analysis, many of these embryos are unknowingly transferred to patients.

HRC is one of the largest providers of assisted reproductive treatments, including PGD, in the US. Both the physicians and staff of HRC are committed to maintaining the highest standard of infertility care in reproductive medicine in terms of moral and ethical practices. Significant experience in infertility treatment and embryo culture, highly skilled medical and laboratory personnel make it possible to offer PGD technology to couples. Preimplantation genetic diagnosis to identify sex linked genetic diseases is offered to couples at risk of having a genetically abnormal fetus. Screening for known genetic disorders can avoid the birth of an affected child or having to face the painful decision of a pregnancy termination.

Genetic Diseases that Can be Screened Using Preimplantation Genetic Diagnosis

Achondroplasia
Cystic fibrosis
Hypophosphatasia
PKU
ADPKD1
Down syndrome
Incontinentia pigmenti
Retinitis pigmentosa
ADPKD2
Duchenne muscular dystophy
Kell disease
SCA6 oSickle cell anemia
Adrenoleukodystrophy
Dystonia
Klinefelter syndrome
Sonic hedgehog mutations
Age-related aneuploidies
Epidermolysis bullosa
LCHAD
Spinal muscular atrophy (SMA)
Alpha-1-antitrypsin
Familial dysautonomia
Lesch Nyhan syndrome
Tay-Sachs disease
Alport disease
Fanconi anemia
Marfan syndrome
Tuberous sclerosis
Amyloid precursor protein (APP) mutation
FAP
Multiple epiphysial dysplasia
Turner syndrome
ARPKD
Fragile X syndrome
Myotubular myopathy
Von Hippel Lindau
Becker muscular dystrophy
Gaucher disease
NF1 and NF2
X-linked hydrocephaly
Beta-thalassemia
Hemophilia A and B
Norrie disease
X-linked hyper IgM syndrome
Charcot Marie Tooth disease
HLA genotyping
Osteogenesis imperfecta
1
Chromosomal translocations
HSNF5 mutation
OTC deficiency
1
Congenital adrenal hyperplasia
Huntington disease
P53 mutations
1

As research continues, new diseases are constantly added to the list of conditions which can be diagnosed using PGD.

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