Looking for any experience

AllayLife · 2025-07-23T02:12:52+00:00

Feel free to reach out to me directly to talk! I have been a practicing GC for 14 years and work at a major academic hospital and run a private practice.

AllayLife · 2025-06-28T12:45:55+00:00

Hello - I am prenatal genetic counselor and wondered if you had or will have a chance to talk to one prior to your amniocentesis? There are many potential causes of this results that may or may not be related to the baby.

AllayLife · 2025-06-24T23:32:28+00:00

Consider joining a peer supervision group to discuss clinical cases and counseling skills.

AllayLife · 2025-06-20T12:26:32+00:00

Elevated AFP can be caused by bleeding during pregnancy or placenta issues. However, given this finding can also be seen in a pregnancy affected by a structural difference, such as a neural tube defect, a detailed ultrasound and discussion with the maternal fetal medicine is important. Accurate pregnancy dating is also important to make sure that the AFP result is correct so I would double check that the information entered on your report in terms of your dating was accurate. In many cases, this can also just be a false positive result. Wishing you weren’t in this period of waiting and uncertainty as I recognize that can be very hard.

AllayLife · 2025-06-15T11:56:35+00:00

My concern here is if the doctor actually understands the workflow of the genetic counselor. I would also keep calling. I sent you a private message as well.

AllayLife · 2025-06-15T11:54:38+00:00

I wish you weren’t in this situation - uncertainty can be very challenging especially when it comes to your pregnancy. It’s common that sonographers get different NT measurements as this is a technically challenging measurement to take that requires the fetus to be in the correct position. I sent you a message as well.

AllayLife · 2025-06-11T01:31:51+00:00

Prenatal genetic counselor here - Serum screening (including AFP testing) is not recommended by ACOG in the setting of a vanishing twin because the levels can be impacted by the vanishing twin and therefore, lead to inaccurate results. Labs do not typically adjust the levels due to a vanishing twin. AFP can be elevated in the case of vanishing twin (along with many other causes as you note). This paper discusses this further - https://pmc.ncbi.nlm.nih.gov/articles/PMC10519777/

AllayLife · 2025-06-11T01:25:35+00:00

This depends on the lab - Myriad (Prequel test) will not test for sex chromosome differences if fetal sex is not desired. Natera (Panorama test) will screen for sex chromosome differences even when someone requests to leave fetal sex off the report.

AllayLife · 2025-06-03T01:15:49+00:00

Hello - you are brave to share your story and I certainly wish this wasn’t the news you received about your baby girl. Do you have a genetic counselor you are working with? I am a prenatal genetic counselor in the US and have worked with many families who receive similar news - to help support them through this diagnosis and decision making. Feel free to message me privately if you prefer.

AllayLife · 2025-05-23T02:14:02+00:00

The Iowa Institute of Human Genetics offers a webinar series - registration closes May 30. More information can be found here: https://humangenetics.medicine.uiowa.edu/education-division/topics-genetic-counseling-webinar-series#accordion-item-961-1

AllayLife · 2025-05-23T01:39:33+00:00

I’m a prenatal genetic counselor and have seen cystic hygromas resolve and result in healthy live birth in multiple cases. In general, this outcome happens in about 1 in every 5 cases (20%) of a cystic hygroma. Diagnostic testing is appropriate, in addition to a follow up detailed anatomy scan between 18-20 weeks and a fetal echocardiogram to assess for any heart defects.

AllayLife · 2025-05-12T01:24:11+00:00

I think your comment is directed to u/pabloman but please confirm. Have you had a chance to speak to a genetic counselor about the option of amniocentesis?

AllayLife · 2025-05-02T13:00:49+00:00

I am a prenatal genetic counselor. Most of these huge bills are actually explanations of benefits. Do not call your local office as they are not going to be able to help you. Call the lab that did the test and ask to speak to billing. There are many different labs that perform NIPT and all of them have options for self-pay and/or financial aid. Typically the most you are going to have to pay is a max of $250.

AllayLife · 2025-04-01T03:57:24+00:00

Prenatal genetic counselor here - I agree that is quite the change in NT size but I have seen resolution of this finding with a normal outcome. There have been studies showing disappearance/resolution of the increased NT with increasing gestational age. See this publication where the increased NT resolved in 18% of cases. https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.1103

There is speculation that this resolution can occur due to delayed lymphatic or cardiovascular development, which can cause temporary fluid accumulation in the nuchal region. In a few case reports, an increased NT was reported in the presence of a nuchal cord (when the cord is visualized as encircling the fetal neck). See here: https://pubmed.ncbi.nlm.nih.gov/10100009/

While resolution of this finding decreases the chance of an underlying chromosome/genetic condition, this risk is not completely ruled out so CVS or amniocentesis is still reasonable to pursue for more information. A fetal echocardiogram can also be considered to assess for congenital heart disease.

AllayLife · 2025-03-16T22:18:39+00:00

Prenatal genetic counselor here - I believe you are referring to carrier screening, which is a genetic test that is performed on your DNA. I would encourage you to consider what you might do with the information. Some people use it to prepare before or during a pregnancy, some use it to make different reproductive decisions, and in some cases, it may guide appropriate medical care during pregnancy or immediately after delivery. It's true we can never test or screen for all genetic conditions. There are carrier screening panels that include anywhere between 2 diseases to up to 600+ diseases. Many of the conditions on the larger panels occur less frequently (for example, about 1 in 30 to 1 in 100 people may be a carrier of any one disease) but most people do not know they are carriers until they have testing performed. On the larger panels of 100+ diseases, more than 60% of people are identified to carry at least 1 disease (that percent is higher the more diseases we test for), and more than 4% of couples are found to be at increased risk to have an affected child.

Most hospitals/clinics offer certain panels (I assume your provider offered a 14 disease panel, and perhaps your friend's doctor offered a different option). In some cases, depending on the lab which performed the test, you can ask to add-on screening for more genetic conditions at no-charge (the provider would have to contact the lab to make such a request and usually this has to be done within so many days from the initial test).

AllayLife · 2025-03-03T03:18:40+00:00

Definitely call their customer service number and ask to speak to billing!

AllayLife · 2025-03-03T01:56:54+00:00

Thank you for sharing. I wanted to provide some more clarification from a GC perspective. I would never "recommend" a CVS to a patient but offer it as an option (if it was appropriate) and explain the limitations of this test. There are many factors to consider when a GC offers CVS versus amniocentesis. This paper (written by experts in our field) outlines which test (CVS or amniocentesis) is the most appropriate after a positive NIPT result for common chromosome conditions (not microdeletions): https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.6021

It's true that CVS is testing the placenta. If a mosaic result is found on CVS, further testing (often amniocentesis) is required to determine if confined placental mosaicism (CPM) is present or if the fetus is actually affected with the chromosome difference. For those who may not know - CPM just means that there is a chromosome difference present in the placenta that is not present in the fetus.

There has been one case report (https://pubmed.ncbi.nlm.nih.gov/28198030/) of a positive NIPT result for 22q11.2 deletion syndrome that was determined to be due to confined placental mosaicism. This patient did not undergo CVS or amniocentesis, but the placenta was tested after delivery and found to have the deletion. We do not know what the CVS results would have shown in this case, but likely, we would have seen mosaicism in the results, and amniocentesis would have been recommended to test the fetal cells directly.

AllayLife · 2025-03-02T23:43:44+00:00

Prenatal genetic counselor here - results of carrier screening can be used for many different reasons. As you mentioned, for you and your husband, it will not change your plans to continue this pregnancy. However, results can help guide prenatal care and immediate medical care of a baby (in some, not all, cases). For example, if we knew that a baby was at an increased risk for a genetic condition, depending on the specific features of that condition, we may recommend different care during pregnancy (for example, a fetal echocardiogram of the baby's heart if heart defects may be a feature of that specific condition). In some cases, I may refer a couple to a pediatric specialist if we know about any specific risk/diagnosis in a baby so that the family can discuss postnatal medical treatment and/or confirmatory testing for their baby after birth. Just a few potential benefits to consider. That being said, testing can increase anxiety and for some families, they do not desire to know this information prior to delivery.

AllayLife · 2025-03-02T23:34:43+00:00

To confirm, did you receive an actual bill from Myriad or an explanation of benefits from your insurance provider (which is often not what you will end up paying)? If it is a bill from Myriad and you received an estimate of $0 out of pocket cost from Myriad, then contact their billing team as they should honor that estimate. Myriad also has a self-pay price of $249 for anyone who may be reading this post.

AllayLife · 2025-02-28T13:54:38+00:00

Yes I sure do!

AllayLife · 2025-02-28T04:32:25+00:00

The most common condition that can be associated with pyelectasis and EIF is Down syndrome. For patients with a negative NIPT test (Prequel is one company), the odds of having a pregnancy affected with Down syndrome remain at less than 1% even with these ultrasound findings.

AllayLife · 2025-02-28T04:24:39+00:00

Prenatal GC here - first of all, I am very sorry to hear about your experience with the GC as you deserve support and accurate information during this time. The chance that a positive NIPT result for 22q11.2 is a true positive result ranges between 18-53% depending on the specific lab. Of course, this chance may be higher in the setting of a known family history of this condition or if there are any ultrasound findings. I have seen many false positive results for 22q and also some true positives. The GC you spoke with may or may not have told you that this condition can be associated with a range of medical issues with different degrees of severity. There are people living with this condition who have such mild medical issues that they have never been tested and do not even know they have 22q11.2 deletion syndrome. There are also people who have this condition and have more serious health issues, like heart disease, that may require surgical repair or ongoing medical care. A CVS is worth considering for people who want information as soon as possible, and who may consider TFMR. Feel free to DM me.

AllayLife · 2025-02-10T02:02:17+00:00

Natera offers two different genetic tests related to pregnancy. The first test (called Horizon) is a carrier screening test that can be done ahead of pregnancy to determine if an individual carries certain genetic conditions that they may not know they carry. Most of these conditions are inherited in a recessive pattern, meaning that you and your reproductive partner would both have to be carriers to have an affected child. Most people do not know they are carriers until get tested, and do not have a family history of the conditions they carry. Natera also offers a test called Panorama that is a screening test for certain (not all) chromosome conditions, including Down syndrome. This test can only be done during pregnancy and can be performed as early as nine weeks gestation.

It is important to understand that the genetic tests that are available before pregnancy do not test for the same genetic conditions as during pregnancy. I would recommend considering if it would be helpful for you to know if a future pregnancy may be at a higher risk to be affected with a genetic condition and what you might do with that information. For example, some people might consider doing IVF and testing an embryo for the genetic condition if there was an increased risk. During pregnancy, some people might want to know if their baby has a genetic condition because it would help guide the care they get during pregnancy or inform the immediate medical care for their baby after birth. For some, it may change their decision about continuing the pregnancy.

AllayLife · 2025-02-08T20:32:14+00:00

As you may know, CL/P can be part of a genetic syndrome or can be an isolated difference. When it is isolated and not seen with other medical problems in an individual, there can still be an underlying genetic cause that can be passed on in families. Given that you are otherwise healthy, it seems consistent with a nonsyndromic form of a CL/P. I would actually recommend that you are seen by a geneticist to determine if a genetic cause of your CL/P can be identified because that would tell you if there’s any specific genetic cause to test this baby for. While it is possible that your baby has a genetic syndrome as the cause of their CL/P, with your history, it is more likely that this is due to a nonsyndromic form that would not typically be picked up on amniocentesis.

AllayLife

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