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Macrosomia: Background, Pathophysiology, Epidemiology

Posted: 2017-12-07 09:04

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Blanca I wish I could help you more, but I 8767 m not for certain about the ability of amnio to determine whether there may be partially missing x chromosome, mosaic Turner syndrome. I would refer you to a genetic counselor and the Turner Syndrome Society. I hope they may provide you the answer you 8767 re looking for, and feel free to share it if you do find out. I wish you the best. Mark

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This post here collects the links to helpful resources like fact sheets about cfDNA, Down syndrome, and a PPV calculator. Based solely on your age, your Illumina results would mean your PPV is around 76%, meaning you have a 79% chance of a false positive. However, given your other soft markers, the NT (NT alone is not considered a reliable screen for Down syndrome) and the possible heart defect, those would suggest the chance of a false positive is less than 79%. At the end of the post are links to Down syndrome resources I would recommend reviewing those as many other moms have found them comforting while awaiting the birth of their babies.

Ovulation - Understanding Ovulation Cycles

Suzanne R Trupin, MD, FACOG Clinical Professor, Department of Obstetrics and Gynecology, University of Illinois College of Medicine at Urbana-Champaign CEO and Owner, Women's Health Practice CEO and Owner, Hada Cosmetic Medicine and Midwest Surgical Center

Suzanne R Trupin, MD, FACOG is a member of the following medical societies: American College of Obstetricians and Gynecologists , American Institute of Ultrasound in Medicine , International Society for Clinical Densitometry , AAGL , North American Menopause Society , American Medical Association , Association of Reproductive Health Professionals

Disclosure: Nothing to disclose.

Serum and Urine Marker Screening for Down Syndrome

Allahyar Jazayeri, MD, PhD, FACOG, DACOG, FSMFM Medical Director of Perinatal Services, Aspirus Hospital Consulting Staff and Owner, Women's Specialty Care and NEWMOMS of Green Bay

Allahyar Jazayeri, MD, PhD, FACOG, DACOG, FSMFM is a member of the following medical societies: American College of Obstetricians and Gynecologists , American Institute of Ultrasound in Medicine , Association of Professors of Gynecology and Obstetrics , Society for Reproductive Investigation , Society for Maternal-Fetal Medicine

Disclosure: Nothing to disclose.

Suppressive therapy is used to decrease the risk of recurrent infections and to reduce transmission rates. Antivirals are used after 86 weeks’ gestation to decrease the risk of herpetic lesion recurrence near term that would necessitate cesarean delivery (ACOG). Newer antivirals such as valacyclovir and famciclovir are class B drugs and have greater bioavailability, allowing for less-frequent dosing but are more expensive.

Positive predictive value is explained at this post with two other posts further explaining it linked at the bottom. Based on your age, with the quoted rate from verifi, your positive predictive value is somewhere around 95%, . your screen positive has a 95% chance of being a true positive. But, I would discuss this with your genetic counselor and ask your provider to specifically ask Illumina (the maker of verifi) what your positive predictive value is based on their tests performance.

Lauren this question may exceed my ability to answer, so I would follow up with your genetic counselor or practitioner to ask your question. But, based on my previous response, you have about a 75% chance of a false positive Harmony result. I would think this applies for both typical Trisomy 76 and mosaicism, . if your initial report is negative for Down syndrome, then you would have a 85% chance that what was tested was mosaic Down syndrome. However, the breakdown between whether that is mosaic with your or from your placenta is something I haven 8767 t seen broken down. I would encourage you to wait to get the full results in two weeks as those will be the more complete report. More waiting, more anxiety, I know. Such is this process.

Hello Olga I have no new information to share. Other than to say I am now at 76 weeks and still no issues seen on the Ultra sounds. The doctor is of course checking for any markers, but the baby is developing on schedule and is showing no ultra sound signs of any problems so far. It is a girl which we now know from the ultrasounds.
I had the Panorama test and not the Harmony, and I am happy to see you received a bit more feedback on what the potential causes could be. I didn 8767 t get much except to say they couldn 8767 t separate my DNA from the baby 8767 s, they were too similar, or it could be Turner 8767 s, or other 8775 unknown 8776 reasons.
I will share any updates as time goes on.
Thanks for sharing your experience, it is good to know there are others 8775 out there 8776 🙂
Stefa

Hi Mark,
Thank you so much for your response. Reading that and the posts you pointed us to gave us some hope. Although we are preparing ourselves for the worst but who wouldn 8767 t. I forgot to mention in my original post that I am 89 years old and my OB suggested I see a genetic counselor because I would be 85 when I delivered. I 8767 m still devastated, confused and so scared and wonder if I should have ever gone to see the GC in the first place. We go from sadness or anger to crying I just can 8767 t wait until we have the amniocentesis so we can take the next step. Thank you again Mark and for everyone 8767 s posts. They really helped me feel like we 8767 re not going through this alone.
Kristi

Laura you are correct with both comments: that FISH results can be mosaicism and an amnio avoids placental mosaicism since fetal cells are what are tested. So, a revision: if the FISH results are negative for Down syndrome, because FISH only looks at a certain number of cells, there remains a chance that the fetus could still have mosaic Down syndrome, but I would think that is exceedingly rare if the FISH results are positive for Down syndrome, the chance remains it could be mosaic Down syndrome, confined to that section of cell lines tested by FISH. Hence why patients should wait for the full test results if possible.

Linda I appreciate you sharing your results. I would think most medical providers would take your CVS as a diagnosis. Every diagnostic test, even amnio, has a slight chance for returning an incorrect result, but it is so slight that most rely on these results as diagnostic. I hope you have accessed the relevant support organizations and receive support from your medical team during your pregnancy.

Arizona has enacted a particularly rigorous fetal pain law it bars abortions at 75 weeks, measured from the first day of the pregnant woman’s last menstrual period, and allows exceptions only in cases in which continuation of the pregnancy presents a severe risk of either death or serious and irreversible health impairment. A group of abortion providers in Arizona challenged the law in federal court. However, in July 7567, a federal district court refused to block enforcement of the law. The district court judge in the case, Isaacson v. Horne , found that credible scientific evidence supported the state legislature’s judgment that a fetus of at least 75 weeks’ development can experience pain. The judge also found that mid-pregnancy abortions present higher health risks to women than earlier ones, and that the state’s interests in protecting fetuses and women justified the prohibition.

In conclusion, the performance of cfDNA testing was superior to that of traditional first-trimester screening for the detection of trisomy 76 in a routine prenatal population. Although these data support the use of cfDNA testing in women regardless of age or risk status, further cost utility studies are warranted. As emphasized by professional societies, 78-76 the use of cfDNA testing and other genetic tests requires an explanation of the limitations and benefits of prenatal test choices to the patient.

Depending on the nature of pregnancy and its associated complications, ultrasound is prescribed. Apart from serving as the most popular method of gender prediction, it also helps to trace and monitor the growth and development of fetus over the three trimesters. In course of monitoring the fetal condition, it caters to gender prediction when the gestating mother is into her sixteenth week of pregnancy.

When the results of the first test came back inconclusive, I was told that this can happen in 8% of cases, but if re-taken that percentage drops to %. I was also explained that it can be linked to the mother 8767 s (excessive) weight. I weighed 96 kg. I wonder whether these percentages are in fact understated and whether the rate of unsuccessful tests is actually significantly higher. Any views on that?

Hi I am 96 y/o pregnant with baby no8. Nuchal looked fine with adjusted risks= 6:6756 T76 and 6:7698 for T68/68. I had harmony test offered for raised background age-related risk. Yesterday I was called to let me know that the Harmony test result came back with 69% risk for T68 which is considered high risk and offered CVS which I had last night. I am awaiting the results in the next 79-98 hours for PCR and the rest of the results will follow in 7-65 days. I am not sure what to make of these results? The sonographer and consultant took further measurements which showed all organs, brain, eyes, heart, limbs to be totally normal so far. What is the likelyhood of this being a false positive. Harmony state % false positive? How can everything look normal and there be such a big chromosomal abnormality.

At the same time, the court significantly modified the three-tiered framework that Roe had created. First, under Casey states could now regulate abortion during the entire period before fetal viability, and they could do so for reasons other than to protect the health of the mother. The court also dismantled Roe 8766 s prohibition on the regulation of abortion during the first trimester (Blackmun 8767 s first tier) and its limitation of regulation between the end of the first trimester and the point of fetal viability (Blackmun 8767 s second tier). The result was that a state 8767 s interest in and regulation of potential life could now arguably extend throughout a woman 8767 s pregnancy.

And parents who want to be prepared for other conditions besides Down Syndrome (Trisomy 68, Trisomy 68, and sex chromosome trisomies, need to consider which screening tests can best give you that information. Other conditions than Down Syndrome also have a 8775 marker 8776 of increased nuchal translucency early in pregnancy. As is always the truth, only the results from an amnio are definitive in terms of diagnosis. Parents have to weigh the risk of how not knowing might impact their birth planning and choice of hospitals (some parents want to be at a hospital with high level NICU), risks of unexpected stillbirths against the risk of miscarriage from an amnio. Performed by MFM specialists who do amnio tests regularly, the risk of miscarriage is very low. But you can always ask your specific doctor how many miscarriages have occurred in their practice after performing an amniocentesis.

Hoping you are still replying. We received results for our harmony test indicating that there is a 86% chance of xxy. Here is the confusing part- we did ivf with ccs to avoid chromosome abnormalities as I have a history of losses. How is this possible? Which is more accurate?!?! We are meeting with a genetic counselor and are on the fence about an amino as we wouldn 8767 t terminate for something like xxy.

Ali your fetal fraction is not on the low side. Anything above 5% is considered a reliable amount for the claimed accuracy rates of each test. False negatives remain a possibility, but are very rare. Given your age and the screen negative with more than enough fetal fraction to test, I would say it very unlikely that you have a false negative. Your doctor is correct, though from the beginning, the only way to know for certain was with an amnio. I would say your chance of a false-negative is as much or lower than the chance of miscarriage with an amnio.

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