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Genetic Testing

Video: What is PGD for Gender Selection?

PGD, or preimplantation genetic diagnosis screens embryos and allows your fertility doctor to replace one healthy embryo of the sex you desire. Dr. Daniel Potter of HRC Fertility explains.

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0:00:00.000,0:00:03.000 (text on screen): Fertility Authority. Your Most Trusted Source 0:00:03.000,0:00:05.000 Ask the Experts 0:00:05.000,0:00:10.000 What is PGD for Gender Selection? 0:00:10.000,0:00:14.000 Dr. Daniel Potter, HRC Fertility: The primary method of gender selection is in vitro fertilization 0:00:14.000,0:00:18.000 with pre-implantation genetic screening of the embryos. 0:00:18.000,0:00:26.000 And when we do this, we can check the embryos for all 24 chromosomes and also know the gender of the embryo, 0:00:26.000,0:00:34.000 and we can select just a single embryo of the desired gender, and place that embryo back, and have a very high pregnancy rate. 0:00:34.000,0:00:44.000 So, you know, when we look at all 24 chromosomes with the PGD, we can tell for sure that the embryo is normal or not, 0:00:44.000,0:00:48.000 and it turns out that when in vitro fertilization doesn't work, one of the primary reasons it doesn't work 0:00:48.000,0:00:52.000 is because the embryos that are being transferred are not normal. 0:00:52.000,0:00:56.000 So, knowing that they're normal is very helpful. 0:00:56.000,0:01:02.000 There are other PGD techniques, FISH being the chief among them, where you can look at the X and the Y chromosome, 0:01:02.000,0:01:05.000 and they are very accurate for selecting gender. 0:01:05.000,0:01:11.000 However, they do not do any good at all in terms of embryo screening. 0:01:11.000,0:01:17.000 If we use the 24-chromosome technology, we can put back, you know, as I said, a single embryo. 0:01:17.000,0:01:26.000 The gender, you know, specificity with that technique in our hands has been 100 percent. 0:01:26.000,0:01:32.000 So, what we do with this technology is we give the female medicine so that she makes multiple eggs 0:01:32.000,0:01:36.000 rather than the single egg that she makes in a normal cycle. 0:01:36.000,0:01:43.000 And then we remove those eggs, and that's done through the vagina using a needle guided by ultrasound. 0:01:43.000,0:01:48.000 The patient's asleep for this, so they don't feel anything or remember anything. 0:01:48.000,0:01:53.000 Once we have the eggs out, we take them to the laboratory and we fertilize them with sperm, 0:01:53.000,0:01:58.000 and at that point the fertilized eggs are; you know, we call them embryos. 0:01:58.000,0:02:01.000 Technically, they're actually pre-embryos. But we call them embryos. 0:02:01.000,0:02:07.000 And so they start off at a single cell and they will divide to the eight-cell stage, 0:02:07.000,0:02:14.000 and at that point we can remove one of the cells and, you know, using various technologies, 0:02:14.000,0:02:21.000 analyze the cell to determine what the chromosomal content is of that cell and then, you know, 0:02:21.000,0:02:26.000 use that information to transfer just the embryos that are healthy and that are normal. 0:02:26.000,0:02:28.000 (text on screen): Fertility Authority. Your Most Trusted Source
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The ABCs of PGD, PGS and More

Here's a primer ...

by Leigh Ann Woodruff, April 29, 2012

Are you new to an infertility diagnosis or just starting your research on in vitro fertilization (IVF)? Many clinics are offering an array of genetic testing options than can help you have a successful IVF that results in a healthy baby, but the alphabet soup of terms surrounding preimplantaton genetic diagnosis and other genetic testing on embryos can be confusing. PGD, PGS, CCS — what's the difference? Here's our best guide to genetic testing ...

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Preimplantation Genetic Diagnosis and Screening: PGD and PGS

If you’re exploring assisted reproduction technology such as in vitro fertilization (IVF), surrogacy, or egg, sperm, or embryo donation, you can have your embryos screened with preimplantation genetic screening (PGS) or preimplantation genetic diagnosis (PGD). PGS and PGD do not diagnose diseases. The lab techniques screen embryos for chromosomal abnormalities (extra or missing chromosomes).

Geneticists and specialists examine and analyze the embryos. If a problem is found, the woman or couple can decide to transfer only the “good” embryos.

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PGD: Who Is a Candidate for Preimplantation Genetic Diagnosis?

Preimplantation genetic diagnosis (PGD) is testing for single gene disorders. It is the genetic testing technique recommended when couples are at risk of transmitting a known genetic abnormality to their children. It is used in conjunction with in vitro fertilization (IVF) to test for a specified genetic disease or diseases. With PGD, embryos without the genetic defect are transferred to the mother's uterus, which reduces the chances of the child having an inherited genetic abnormality.

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Video: Which IVF Patients Should Use PGD?

Women under the age of 35, have approximately a 30 percent chance of aneuploidy - embryos with chromosomal abnormalities. Matthew Rabinowitz, PhD, CEO of Gene Security Network explains that these women in addition to women over the age of 35, may also want to consider PGD (preimplantation genetic diagnosis).

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0:00:00.000,0:00:03.000 (text on screen): Fertility Authority. Your Most Trusted Source 0:00:03.000,0:00:05.000 Ask the Experts 0:00:05.000,0:00:10.000 Which IVF patients should use PGD? 0:00:10.000,0:00:13.000 Matthew Rabinowitz, Ph.D, Gene Security Network: Traditionally, it's been said that patients beyond the age of 35 0:00:13.000,0:00:19.000 should be considered for PGD. But what we're finding recently is that PGD 0:00:19.000,0:00:25.000 could very well be recommended for patients that are younger than 35 as well. 0:00:25.000,0:00:29.000 So, the main issue is that IVF cycles will often fail because of aneuploidy, 0:00:29.000,0:00:33.000 or chromosomal copy number problems on the embryos. 0:00:33.000,0:00:38.000 It's definitely the case that women who are 35 and older, you know, have a higher rate of aneuploidys, 0:00:38.000,0:00:44.000 and preimplantation genetic diagnosis is definitely warranted for them. 0:00:44.000,0:00:52.000 But for women who are younger than 35, as well, you know, you've got about a 30 percent rate of aneuploidy for young mothers. 0:00:52.000,0:01:00.000 And so, for people who want to make sure that if you've got multiple embryos that look good on day five, to select, 0:01:00.000,0:01:07.000 you are very likely to select an embryo that is euploid and is likely to implant and turn into a healthy pregnancy. 0:01:07.000,0:01:11.000 You know, preimplantation genetic diagnosis for aneuploidy is warranted there as well. 0:01:11.000,0:01:16.000 So, we see a lot of IVF centers who do aneuploidy testing right across the board. 0:01:16.000,0:01:19.000 They will use aneuploidy testing for egg donors, etcetera. 0:01:19.000,0:01:24.000 I would say that so long as you have enough eggs that have been retrieved, 0:01:24.000,0:01:28.000 and I would say probably around nine; eight or nine or more eggs retrieved, 0:01:28.000,0:01:36.000 and you're very likely to have a number of embryos of reasonable morphology to select on day five, 0:01:36.000,0:01:41.000 then PGD is warranted, because you're gonna make that decision based on the best information you can, 0:01:41.000,0:01:47.000 and the genetic information is the dominant effect that impacts implantation rates. 0:01:47.000,0:01:56.000 For those families who are trying to avoid genetic diseases in their children, you know, PGD is absolutely warranted in all cases, 0:01:56.000,0:02:02.000 because you are going to select one or two embryos to transfer anyway. 0:02:02.000,0:02:05.000 And you may as well make that selection on the best criteria you can, 0:02:05.000,0:02:09.000 including the genes that you might be concerned about in your family. 0:02:09.000,0:02:12.000 (text on screen): Fertility Authority. Your Most Trusted Source

Are PGD and PGS Safe?

Preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) require extra steps in the in vitro fertilization process. The embryos are biopsied, and the cells retrieved from the embryos are sent to a laboratory for genetic testing.

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New Test Screens for Genetic Defects Early in Pregnancy

By Leigh Ann Woodruff, February 28, 2012

A simple, early blood test for detecting fetal chromosomal abnormalities will soon be on the market and may be offered by your doctor. The test, developed by a Stanford scientist and offered by the biotechnology company Verinata Health, can detect Down Syndrome (trisomy 21) with 100 percent specificity (no false positives) and sensitivity; Edwards Syndrome (trisomy 18) with 100 percent specificity and 97.2 percent sensitivity, and Patau syndrome (trisomy 13) with 100 percent specificity and 78.6 percent sensitivity, according to a recent clinical trial.

The new test analyzes fetal DNA in a mother who is 10 weeks pregnant. This spares a woman the risk of miscarriage with a more invasive test such as amniocentesis, which is typically performed at 15 to 20 weeks. In addition, a decision to terminate the pregnancy could be made earlier if a genetic defect was detected. Chorionic villus sampling, another genetic test, is performed earlier between the 10th and 12th weeks, but it is also an invasive test.

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PGD: What Is Preimplantation Genetic Diagnosis?

Preimplantation genetic diagnosis (PGD) is a laboratory procedure that is used in conjunction with in vitro fertilization (IVF) to screen for single-gene defects that may cause genetic disorders. It is a specific test offered to patients who are at a high risk of transmitting a known genetic disorder to their child. By using PGD, families affected by essentially any inherited disease can reduce the risk that their children will suffer from that genetic disorder

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