Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) Now Have New Names

Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) now have new names. In order establish consistency across infertility clinics, the International Glossary on Infertility and Fertility Care recently published new terminology related to the genetic screening of embryos. PGS and PGD are terms we have used to describe genetic testing of embryos before a […]

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Why Genetic Testing?

Genetic Testing

At least one in 30 people are a carrier of a genetic disorder. Most carriers don’t have a family history of a genetic disease. Many patients ask us why genetic testing is important to consider? Being a carrier of a genetic disorder does not usually affect one’s individual health, but being a carrier does mean […]

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Hereditary Gynecologic Cancers

hereditary gynecologic cancers | PGD | Infertility

There are approximately one million people in the Untied States carrying genes for the most common hereditary gynecologic cancers: BRCA and Lynch syndrome. Early diagnosis of their carrier status and interventions such as increased surveillance and prophylactic surgeries can dramatically reduce their risk of dying from cancers caused by their genetic mutations. A focus on […]

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Universal Genetic Testing

Screening for fetal chromosomal anomalies like Trisomy 21 (Down syndrome) during pregnancy has been a routine part of prenatal care for decades. Identifying pregnancies at risk for single gene autosomal recessive disorders is also possible prenatally but not until recently has it been possible to identify couples at risk for having a baby with these […]

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The Difference Between PGD and PGS

What is the difference between PGD and PGS?

Wondering what is the difference between PGD and PGS?  Here are the details in this video by Dr. Vitiello. Click here to watch: The Difference Between PGD and PGS Preimplantation Genetic Diagnosis (PGD)  Preimplantation genetic diagnosis (PGD) involves screening single cells from embryos for genetic diseases and chromosomal disorders. This testing is performed with in-vitro fertilization (IVF) […]

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Preimplantation Genetic Diagnosis

In addition to testing for single gene mutation abnormalities, preimplantation genetic diagnosis (PGD) is also used to detect a chromosomal abnormality when one partner has a balanced reciprocal translocation or a Robertsonian translocation. Chromosomes are string-like structures located in the nucleus of cells. Chromosomes contain genes that are made of DNA. All of our genetic […]

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Preimplantation Genetic Testing

preimplantation genetic diagnosis

In this five part series preimplantation genetic testing is defined and the categories of genetic disorders that preimplantation genetic testing may identify are described. Preimplantation genetic testing for diagnosis is referred to as PGD and is used to identify specific chromosomal or genetic defects in embryos created though in vitro fertilization (IVF) and intracytoplasmic sperm […]

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Genetic Disease – Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is an inherited disease that affects an infant’s muscular activity.  Voluntary muscles are driven by motor neurons.  Children with SMA are missing a gene that is required to produce certain proteins involved in motor neuron development.  Without this protein, the nerves shrink and ultimately atrophy.  Without motor neuron innervation, the muscles […]

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