“Confined Placental Mosaicism: More common than you might think” - with Tamar Goldwaser

Dr. Tamar Goldwaser joins Dr. Fox to discuss confined placental mosaicism, a condition in which the DNA makeup of the baby does not match the DNA makeup of the placenta. They cover what this means for DNA testing results, how it could affect the baby, and more.
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[@elifiscan3478]

Hello, I am 35 years old.and its my first pregnancy. İn the week of 11+4 ultrasound scan came out quite well, even looking at the nuchal thickness and nasal bone, I can say that the baby is 70 percent healthy, my perinatalog doctor said. However, as a result of the double test performed that week, trisomy 13/18 : 1:50 came out. Nipt test was performed in my 14th week and the result was trisomy 9 high risk. When examined by ultrasound at regular intervals, no anamoli was seen in the baby. I received genetic counselling and the doctor said that this result indicates baby could be 99% healthy, 1% mosaic trisomy 9. And he said it could possibly be mosaism limited to the placenta. I will go to a specialist perinetologist at 16+3 weeks of pregnancy to consult whether I need to have amniocentesis and for repeat ultrasound examinations. Also, the baby is 4 days ahead in terms of development. Have you come across a case progressing in this way? You will be doing a great favour if you share your risks, information and comments.

[@lisis84]

I appreciated hearing your conversation, especially as someone who got flagged for Monosomy X in an NIPT last week and will be getting my amnio Jan 11th. I do think it’s incredibly irresponsible to not present these results without properly counseling patients on PPV. Especially when recommending the type of diagnostic test to follow. Like Tamar said, providers must take a nuanced approach. In my case, I also had a completely normal NT scan yet the MFM doctor insisted that I needed to get a CVS done, without explaining or taking into account CPM, and the risks of possibility having to get both a CVS and amnio anyway. I asked to speak to a genetic counselor and she said they don’t have one on staff and the doctors only instance they would refer me to one is after a positive diagnostic test. Because I know someone who had a false positive NIPT, I sought out second options at Weill Cornell and Beth Israel. Not only do both of these institutions *require* genetic counseling before any diagnostic tests, neither one recommended a CVS in this specific case as Monosomy X tends to happen more often in the placenta and not the fetus and I had a normal NT. Not only that, Beth Israel strongly recommended the CVS given risks associated with the possibility of having to also get an amnio done, as well as the emotional toll another possible false positive could have on a pregnant woman.
So while I won’t know my diagnosis for a few more weeks, after speaking with a genetic counselor that I had to seek out myself at the lab that performed this test, as well as with experts at those 2 hospitals, I understand the low PPV in my specific case, and I was able to make an informed decision on which diagnostic test to get. Never mind my mindset completely changed from complete doom to cautiously optimistic.
NIPTs can be a great tool, but there needs to be a greater effort at the national level on establishing guidelines on how to properly inform women of what the results could mean before the test even happens and how to do proper counseling after abnormal results (preferably with a genetic counselor involved), and what the appropriate diagnostic test offered should be for different trisomies and monosomies.

[@lisis84]

I should clarify Beth Israel strongly recommended *against* a CVS in my case.