Absence of Fetal Nasal Bone in Midtrimester as a Marker for Down Syndrome

35 Comments:

• At Mon Sep 07, 02:20:00 PM 2009,  Tamsen said…

  Thanks for responding. I did end up having an AFP screening with good results. My Dr.'s office gave me a 1 in 4000 chance of downs syndrome, however I'm assuming that based on the AFP alone. I'm still waiting for a call back from the Dr. at Maternal Fetal Medicine where I had my ultrasound done. What are your thoughts on these latest developments?

   

• At Mon Sep 07, 05:06:00 PM 2009,  Anonymous said…

  Dear Dr. T,
  
  I am scheduled for an amniocentesis tomorrow morning and am wrestling with the decision and, in general, with best management of my "high risk" pregnancy. I am a 37 year old, Caucasian, nonsmoking female with no major medical conditions, experiencing a first pregnancy. Last week, we were given a 1/50 chance of Downs Syndrome, but there are a few other pregnancy factors which I am concerned may have influenced the results and may cause other complications over time.
  
  Here are the lab results:
  
  1st trimester screen:
  HCG1 1.01MoM
  PAPP-A 0.45 MoM
  Nuchal fold: 1.3 mm 0.69 MoM
  
  On the basis of first trimester screening, we were given a 1 /325 risk of Downs and an insignificant risk of other problems. The second trimester screen was worse.
  
  2nd trimester screen
  AFP 1.07 MoM
  HCG 2.09 MoM
  UE3 0.48 MoM
  INH 1.52 MoM
  
  Level 2 Ultrasound:
  This pattern across first and trimester screen raised our risk to 1/25. We had an immediate Level 2 ultrasound (at Week 17 or 18, some debate on gestational age) that saw no soft markers of Downs (nasal bone present, no heart defects, no cysts in the brain, reasonable nuchal fold, etc), lowering our risk to the current estimate of 1/50. Given that the complication rate for amnio is around 1/300 (ours will be done by a perinatologist), the risk of Downs seemed higher than the risk of the procedure and, with some ambivalence, we took the first available amnio appointment in the schedule (I am at either 19 or 20 weeks, again some debate)
  
  I am concerned that our numbers may be off because of four possible factors. First, I have 5 uterine fibroids (developed for the first time in pregnancy), including a very large 8cm x 6cm fibroid on the top of the uterus. Second, the Level 2 ultrasound indicated a low lying anterior placenta that may (hard to see) be covering part of the cervix. Previous ultrasounds had not indicated this. There are also two low fibroids immediately next to the cervix and placenta. Third, there has been some debate on gestational age. A Week 7 ultrasound indicated a due date of 2/8/10. Ultrasounds since then keep pushing back the due date, currently to 1/31/10. This was from the estimate of the crown-rump length from the nuchal fold ultrasound, which has since been used to interpret all tests. However, I thought that earlier crown-rump measurements were the most accurate. Fourth, I recently was diagnosed with a UTI (currently on Microvid), following an episode of acute urinary retention that landed me in the ER. Initial results for the UTI were negative, and the retention was thought to be a result of mechanical blockage from low fibroids. UTI results came back positive after 24 hours of wearing a foley (fortunately, I have not needed any sort of catheterization since).
  
  Sorry for the long post, but I am assuming that more health information is better than less.
  
  My questions are just two:
  
  1. If you have time to respond today, do you have any wisdom to offer on having the amnio tomorrow or suggested questions we ask before consenting to the procedure? I have received contradictory information, for example, on whether the presence of fibroids increased the amnio complication rate (which would shift the risk-benefit ratio)?
  
  2. Given my overall lab results and pregnancy picture, are there general issues we should be researching or tests we should request? I am covered by a large HMO, but we have been pushing to have our care transferred to a perinatologist (versus nurse-midwife). We have a first appointment with the perinatologist on the 14th, and I would like to make the best use of her (and our!) time.
  
  Thank you so much for any thoughts you can share. This is quite the community service you are providing!
  
  Best,
  
  Raquel

   

• At Wed Sep 16, 09:08:00 AM 2009,  Worried said…

  Dear Dr. Trofatter,
  Thanks for this website.Your info is educational but your compassion shines through also!
  I am writing this regarding results from a 1st trimester screen that I had last wk. I am 36 yrs 9 mos old & am now 15 wks pg. This is my 6th pg(2 losses- 1 @ 12wks over 4 yrs ago- no tests run, fetal growth stopped @ 8 wks & naturally passed @ 12 & a 4 wk loss 8 mos ago- no d&c's) AND I have had 3 healthy babies @ term. Thank God!
  When I first discovered that I was pg this time around, my OB set up hcg's to monitor my progress due to my hx. My hcg's were high from the get go-sometimes tripling q 2 d. This concerned me because I had read about molars,twins & Down's. My OB was not concerned & said that this is ok for some women & could be a strong pg. We did have an US to rule out twins @ 6wks & only 1 fetus showed but there was some extra "fluid" behind the bag meaning that there had poss. been a vanishing twin. F/U scans also cont. to reveal only 1 baby. I had the 1st trimester screen because of my age & those high hcg's.
  My scan @ 13wks6d came back wonderful according to the US tech. My EDC was supposed to be @ 13 wks. Nasal bone was visualized and my NT was 2.3mm (1.28 MoM). Completed @ a level 3 hosp.
  Blood work which showed HCG=1.90, PAPP A=0.93. The CR length was 79.5mm. HR 155bpm. This put me @ a DS risk of 1/92 for age and 1/69 with my results. I am so upset! I felt good after the scan,now I do not.
  Do my hcg and PAPP A seem compatible? They are not that low or high right? I do have a app. with MFM Dr in 2wks for a consult & poss. amnio. I know that an amnio is accurate but am scared of the risk due to my hx. My OB said that she advises this to ease my mind but is not overly concerned. She said she would be only if my results like 1/20 & that my screen came back pos mainly due to my age.
  1/92 for a 36 yr old!I read before that it is 1/400! Is 1/92 right? Will they recalulate after doing a 2nd scan before an amnio?
  I am a healthy dairy eating vegetarian who also takes B vits. I do not smoke or drink, have taken prenatals, folic acid for yrs & DHA since the pg. I do not even use OTC drugs nor have I had a lot of xrays or dye tests for any reason. I do weigh my heaviest now @ approx. #180. I am 5'4". No diabetes, PIH or problems during any pgs other than the mc's.
  I do eat garlic q day because my OB said that there could have been a poss. clot issue w/ the babies I lost.(Sugg. 1 baby ASA/d but I opted for garlic due to the known safety). She also sugg. this due to my spouse having had a scary PE @32yrs old. All studies neg for all clotting disorders for him. I used natural progest.supp.50mg/d during wks 11-12 of pg again due to the prev.losses.(Enc.@ 6wks.) Could the progest. keep the hcg elevated or make a big placenta? Could a loss 8 mos ago effect my #s? Could my results be off due to the poss. twin loss early on or would that show an high PAPP A also? Could it be the diff. w/ the US' EDC and my Dr's?
  My babies were 6,7 or 8lbs. Last 1did have a marginal insertion site on the placenta that we discovered @ del. but she is perfect. Could hx be repeating & causing the abn. levels? No tests run w/that pg. No family hx of chromosomal issues but hubby was 40 @ conception.
  I can't stop going over it all. I am going to ask about having the quad/triple done when I can. I am also interested in the target US. Do you have to be 18wks? Can't a 3/4D US show something now? Is there anything else I can do @ this time other than the dreaded amnio and LOTS of PRAYERS? What do you think? Can you please shed some light on me?
  Sorry to be so lengthy.I am an OB RN & was trying to be detailed. Thank you for all of your time. You are a wonderful for providing this service to those of us "left out here in the dark".
  Sincerely, "Worried"

   

• At Wed Sep 16, 05:23:00 PM 2009,  Heather said…

  Hi - I apologize that my comment is unrelated to this post, but was wondering if you have any (unique) thoughts on my situation. I had a live birth without any pregnancy complications in April 2004 - my son is five and is fine. We conceived him on our own about 50 days following my LMP - our miracle baby! I have been diagnosed with PCOS since then and have conceived fairly easily once I ovulate but only ovulate on a decent dose of Clomid and metformin thrown in for good measure. In September 2008, I had a missed miscarriage - no hb at 20 wk appt. Baby had hb at 16 wk appt. but measured a little small (45 g?) for gestational age (and we know exactly when we conceived b/c I was charting, etc.). The MFM I saw for a consult concluded, based on the ratio of the size between the placenta and fetus, that the placenta stopped functioning properly, causing fetal demise. There was also an unusually long umbical cord, so a possibility of early cord accident. I was induced - no gross abnormalities. Chromosomes would not grow. MFM tested for clotting factors - all neg. except hetero MTHFR. In April 2009, I had another missed miscarriage. I had been monitoring at home with a doppler and the hb stopped at 16 wks. and a few days. Again, no gross abnormality and chromosomes did not grow. This time, the placental pathologist found placental hydrops, suggesting fetal anemia. Testing 2 mos after that pregnancy ended showed I had immunity to parvo but no infection at that time. No exposure at all to toxoplasmosis or torch. Clotting factor tests were repeated with the same results as before. So, long story short, unexplained secondary recurrent miscarriage. Both babies were buried, so we could have dna testing done, but the MFM seemed to think that would not likely turn anything up (for second loss, not first, we had nuchal translucency and maternal serum screen without recommendation of further testing). We were both tested for balanced translocation - no. The MFM recommends empirical (or higher dose but not therapeutic dose?) Lovenox and discontinuing metformin once pregnant (on the off chance it is somehow a factor). And more frequent screening? Any other thoughts. I have all of these details in records but post is already too long. I would appreciate any input at all. We are accepting that another pregnancy is a risk, but want to know we've searched every avenie we could.

   

• At Mon Sep 21, 02:57:00 PM 2009,  Amy said…

  Hi can you help. I am 32 weeks pregnant after 4th IVF attempt no cause found for infertility. Fundal heigth measuring 39cms, AFI 30cm at Utlrasound. Previous Myomectomy for external fibroid measuring 13x11x9cm complete success. I had BMI of 32 at week 10 and gained 15kg so far monitoring weight and sticking to restrictive diet as planned c section due to myomectomy scar. No problems found when scan performed tummy measuring 34.5 weeks, head 36 weeks in 95th centile both parents short although husband and siblings large babies. Baby lying transverse/oblique no sign of gestational diabetes or pre eclampsia. Blood pressure good due next ultraound in 4 weeks to assess situation. Am very concerned midwife thinks delivery may be pulled forward to week 37 from week 39. Should I be concerned.

   

• At Thu Sep 24, 10:10:00 PM 2009,  Christina said…

  Hi Dr Trofatter,
  I just came across your blog while doing a search about obstetric cholestasis. You are the first doctor who seems to know a bit about ICP and actually be able to give advice. I looked for a way to email you privately but did not see one. I am currently 35 weeks pregnant with ICP AGAIN. I am planning my 2nd homebirth and have no plans on a medical induction at this point. I do have some questions I would like to ask you as well as possibly counsult with you as I get my blood test results back over the next few weeks. You can email me at Glittermomto6@aol.com if you have time. Thanks so much
  Christina

   

• At Fri Sep 25, 04:02:00 PM 2009,  Anonymous said…

  Dear Doctor,
  Hello again. Although I have not seen a comment from you yet reguarding my first post, I wanted to write again with new info. At 15wks I had a very very sm amt of spotting x1 episode. My OB order an US which showed a low lying placenta. Pelvis rest of course & hopefully it will move. Can this be part of the elevated hcg problem? I also received my 16 wk quad screen results. I was not given them all in MOM but she said that they were all WNL except once again my hcg. It was 66 IU/mL or 2.65 MOM. My AFP was 18.1 nan/mm, estriol 1.19nan/mm and INA 194.4 PK/mL. These results put my age risk of Down's @ 1 in 154. My age alone on this test would be 1 in 202. I feel better having a stat of 1/154 vs the initial 1/69 chance from the first trimester screen (age alone would be 1/92). How are these numbers so different? They are seperate tests and the first trimester I thought took my normal nuchal & nasal bone into consideration. I am still waiting to get in to the MFM Doc but am so anxious about what all of this means. Still debating over an amnio. Is the 1st trimest test more significant or the quad? Is just a cont. high HCG better than all results being abn? I also recently read that vegetarians have false high pos hcg levels- any truth to that? My vit B levels are usually norm to sl. low. Sorry for the length again. I would love to hear your thoughts on my first post and if poss. this one as well. Tx for your generous time. "Worried" again

   

• At Mon Sep 28, 10:59:00 AM 2009,  Anonymous said…

  Dear Doctor:
  
  I have had 3 miscarriaes and a live birth of a healthy baby girl. I got pregnant first three years ago when I was almost 29 but lost it due to Trisomy 16 at 6 weeks. I got pregnant again at almost 30 with my daughter. I gradually weaned her by 9 months (my period had returned at 7 months) and conceived 6 weeks later, but lost it at 9.5 weeks due to triploidy xxx. Three months after that I conceived again but lost that one at 6 weeks. I had to have d and c's for all three. I am not sure what happened with the most recent one but I believe it was a chromosome problem because I had odd bleeding 7 days after conceiving, it wasn't heavy but it looked like a period was starting early. This was the case with the other two, which leads me to believe that my body attempts to reject these pregancies and can't. Do you believe that I am right? My periods are regular and so is my ovulation. Lately my ovulation has been hurting a lot, but this also helped me to conceive. As soon as I figure out when I am ovulating I conceive right away. I just turned 32 after this latest miscarriage.
  
  What do you believe is happening here? My ob thinks I should buy a lotto ticket, and the genetic counselor also seems the same, but I met with the type of doctor who does IVF and he thinks that either I or my husband may be disposed toward "nondisjunction." I am starting to think the real fluke here was my child.
  
  Also, do you think there is a possibility that starting a period after a time of cessation of cycles results in the first few eggs coming out badly? My first miscarriage was two months after quitting the pill, and my second was my first non-breastfeeding cycle. My third was after two cycles had resumed after being pregnant for two months. What do you think? please let me know and thank you.

   

• At Tue Sep 29, 08:00:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Raquel Sep 7: Sorry for the delayed response, but I have just seen your comment. In the hands of an experienced MFM, I doubt the risk for complications from an amnio would be greater than the 1 in 300 you have been quoted. So I hope everything turned out ok from that standpoint. In fact, I am sure you have the results back by now, so again, I hope all was fine. At your age and with the uterine complications you describe, I would suggest you have an MFM to continue to work with your primary provider. You may be at risk for placental insufficiency later in the pregnancy (which can lead to fetal growth restriction and preeclampsia) and you might also be at risk for a placenta accreta which might complicate your delivery. Sometimes the diagnosis of that can be made (or at least highly suspected) prior to delivery and your doctors can counsel you and be prepared to handle any complications. Best wishes and if you check back with us, please let us know how things turn out!
  Dr T

   

• At Tue Sep 29, 08:28:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To worried Sept 16: Sorry, I am just now getting around to findings questions from folks from mid-Septemeber. First, please take a DEEP breath and count to 10. You are beating yourself into the ground worrying about everything and anything. Since you will be 37 at delivery, your first trimester risks for a baby with a chromosomal abnormality are about 1 in 133 for Down syndrome and 1 in 66 for all chromosomal abnormalities. The NT measurement, your age and the relatively high hCG level in comparison to the PAPP-A increased your risk for Down syndrome. However, I am encouraged by the normal PAPP-A and by your past history of uncomplicated pregnancies and larger babies with each successful pregnancy. The hCG may well be higher because of a larger placenta than average for this early gestational age. Of course that might also place you at greater risk for gestational diabetes later in pregnancy as well. You can have a "quad screen" done at 16 weeks, but that might cloud issues even further unless the laboratory you doctor uses has a way of "integrating" the results from a combination of the first and second trimester results. You can get an ultrasound done earlier to look for obvious major birth defecs, although sometimes the fetal heart exam is not optimal at that point, or you could simply have an amnio done at 16 weeks and put all your questions behind you (and stop worrying). Your prior miscarriages were most likely to have been chromosomally abnormal pregnancies so I doubt they would put you at any greater risk from an amnio. Best wishes and let us know how things turn out.
  Dr T

   

• At Tue Sep 29, 08:34:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Heather: Based on what you have told me, I suspect that both midtrimester losses were chromosomally abnormal babies. PCOS patients can have other difficulties that may or may not be overcome with empiric therapy. But, the therapy your MFM has suggested would certainly be reasonable. I would throw a baby aspirin and extra folic acid into the 'empiric mix' as well and probably discontinue both lovenox and ASA at 20 weeks if everything is going well at that point. Other than that I would not have any suggestions at this point. Best of luck to you and thanks for writing.
  Dr T

   

• At Tue Sep 29, 08:39:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Amy Sep 21: Your doctors may want to deliver you closer to 37 weeks if they feel the uterine scar from the fibroid is deep enough that it puts you at greater risk for rupturing your uterus. You will need to discuss that with your docs and also ask if they think an amniocentesis to assess fetal lung maturity might be warranted if the need for delivery that early is not an absolute necessity. There are complications from "late preterm" deliveries done electively, especially if the baby is delivered electively by cesarean section as it appears yours will be. Best wishes and congratulations!
  Dr T

   

• At Tue Sep 29, 08:41:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Christina: I'm sorry, but I would really prefer not to give out my personal email addresss. I would gladly try to answer your questions here! Dr T

   

• At Tue Sep 29, 08:48:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To worried again sep 25: The first trimester and midtrimester screens are comparable as far as detection rates for Down syndrome and trisomies 18 and 13 at about the same 'false-positive' screen rates. The hCG results speak again to the increased likelihood that the placenta is large as a cause of that elevation. The results are different because they are looking at different factors and at different times in the pregnancy. The serum markers change with gestational age and affect the 'risk results' differently in first vs second trimesters. Taking the second trimester screen alone into account, you are still technically "screen positive" but at that risk level, a normal genetic ultrasound at 18-20 weeks will reduce your risk by at least 50% so that may be the way to go. I am glad you are feeling a little better about things. Good luck!
  Dr T

   

• At Tue Sep 29, 08:55:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous sep 28: All your questions are excellent, but unfortunately, the answers aren't. Over the years I have come to believe that some couples are prone to an increased likelihood of nondisjuntion when they make gametes. So, perhaps, IVF with selection of the 'healthiest-appearing' embryos for transfer or preimplantation genetic diagnosis (PGD) are options for you. If you are worried about conceiving shortly after starting cycling, then put off attempts at conception for at least 3-4 cycles. I think the fact that you have had one normal child increases the probability you will be successful again, but there may be more heartbreak before you are as well. Best wishes and sorry I can't be more help.
  Dr T

   

• At Tue Sep 29, 05:03:00 PM 2009,  Anonymous said…

  Dear Doctor, (I am anonymous Sept. 28) thanks for writing me back so quickly because that is what I believe too. But I would like to tell you that I got the results of my latest miscarriage and it was also triploidy xxy. What do you think of this?
  
  I do want to try again a couple of times before I turn to something costly and kind of scary to me like IVF, even though I am starting to believe that this is just the rule with us.
  
  A couple more things-I was worried about the whole between cycles part, but do you yourself think it is valid? Would I meet with more success if I had more pregnancies within a time frame, which would give me more chances, or if I waited for a while between? There were 8 months between my first pregnancy and my baby, but that pretty much was because we weren't trying the right way.
  
  Also, both of these last two pregancies came from an ovary that has been killing me during ovulation. I know this because I felt it and it grew a cyst. The other one, which I know my child came from (there was a cyst there too) has not done a thing for a while. Do you think there is a connection here, like I might have better luck with my other ovary whenever it gets to work?
  What would you think my odds are of conceiving naturally? Thanks again for answering me so quickly.

   

• At Tue Sep 29, 05:05:00 PM 2009,  Anonymous said…

  Thank you so much for your input. I am getting a second MFM opinion this week. I was actually on baby aspirin and folic acid with the more recent loss, but have never tried Lovenox. I really wish we could just know about the chromosomehas for peace of mind. I am now researching whether comparative genomic hybridization would help, whether anyone would do it in this case, and whether it would be cost-prohibitive. Again, thanks so much for your time. - Heather

   

• At Wed Sep 30, 10:56:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous sep 29: Hi again! Conception does not appear to be your problem - making a healthy embryo is! Odds are in your favor if you keep at it, sooner or later you will have another winning lottery ticket! You don't need to wait 8 months between attempts. Your doctor also might consider a low-dose of an ovulation inducing agent such as clomid. Sometimes this empiric therapy helps, but watch out for multiples! Best of luck.
  Dr T

   

• At Wed Sep 30, 10:57:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Heather. Hello again. Best of luck to you and let us know what you do and how things turn out!
  Dr T

   

• At Thu Oct 01, 12:01:00 PM 2009,  Anonymous said…

  I'm on lovnox and 81 mg of baby aspirin i'm 8wks. i take lovnox everyday and the aspirin too.every time i i take i think in my head i hope i doing the right thing. i just want to know if it is safe to do. my docter says it is but i realy dont know. i want to stop taking the aspirin but my boyfriend told me that we should just listin to the docter. my docter told me would take me off eveything 37-38 weeks. i just dont want nothing to be wrong with the baby or me to bleed to death. someone plezz help me.

   

• At Wed Oct 07, 12:10:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 1: Why are you on Lovenox and aspirin, how much do you weigh, and how much Lovenox are you taking?
  Dr T

   

• At Sat Oct 10, 08:20:00 PM 2009,  Anonymous said…

  Dear Dr. Trofatter:
  Thanks again for answering my questions about my three miscarriages (I was anonymous Sept. 28 and 29, but please call me Connie).
  I have been thinking about your response giving clomid as a type of therapy, and am wondering a few things if you can help me.
  
  1. I found research about triploidy saying that it could be related to overripeness of oocytes (in animals, but even in humans too) due to a delay in ovulation when it starts. I have been noticing since my cycles came back after my pregnancy very exaggerated ovulatory symptoms, like more mucus than I ever had in the past, lots of serious pain where it is hard to even sit down, and I can even feel the side where the egg comes out. The whole process seems to take up to a week sometimes, and I even get some nausea and loss of appetite too. It never used to be like this before my baby. And it is always at least a week later than I think it should be. It never was like this before, and I never had triploidy before these symptoms arose. Do you believe there is something in this theory and is this why you mentioned possibly clomid helping me?
  2. The research mentioned that this seems to be seasonal for some people, or after beginning your period as a teenager, getting close to menopause, or after getting out of a pregnancy. My first triploid pregnancy came right after my first cycle after quitting nursing, which by the way took an extra month to begin. Do you think all the prolonged nursing (I did a lot of nursing for months) and all the delaying of the menses could have led to a kind of imbalance?
  3. There is no history at all of early menopause in my family (my mom is close to menopause but she is 52 and still gets an occasional period) on either side and many family members had kids even after 35. Most of my relatives with exception of one person have had more than one kid and many have had at least three or more. But do you think I should look into early menopause as a reason? This is my most frightening scenario. My periods and ovulations are regular, even though they have been acting weird.
  4. Should I take clomid after a few cycles or wait a while to see if I stabilize? Would you think that the clomid could help address this pain and this exaggerated ovulation time? Should I take clomid for a few months to try to make it earlier? I really feel that there is a connection between the new way my body has been ovulating since my cycles have returned and the triploid conceptions. It just seems really new and nothing I remember from the past. I just got my d and c on Sept. 15 and am only now ovulating. How long should I wait with these ideas in mind?
  
  After my first miscarriage 3 years ago I did not experience any ovulatory pain or weirdness like this, although I may have missed a cycle or two naturally out of some stress.
  
  By the way, I am very sorry this is so long but I am scared and have been thinking about these ideas for months, and since they aren't really common not a lot of people can help me with them. Please let me know what you think. What I really want to know is if I should wait longer and take clomid, or if the clomid idea would not require me to wait as long.

   

• At Thu Oct 15, 06:24:00 PM 2009,  Melissa said…

  I just had a CVS done on 10/13 at 11 weeks, 6 days because of my age, 35. The doctor reading the ultrasound noted the nuchal fold at 3.3, absence of nasal bone and difficulty seeing all 4 chambers in heart. My FISH test came back today negative and I saw another post from last year who had a FISH result come back negative but amnio positive for Downs. With all 3 markers do you think there is a high probability that there is some other chromosomal abnormality that will show positive on the CSV result? My doctor also sent sample for DiGeorge's and asked to hold sample for further tests. We plan to terminate if there are any abnormalities so I'm concerned about waiting for the results. 10 more days for CVS, 3 weeks for DiGeorge.
  Thanks, Melissa

   

• At Thu Oct 15, 10:29:00 PM 2009,  andrewj said…

  My wife is going to be 40 in 6 weeks.She is 17 weeks pregnant. Her Down risk given to us was calculated to be 1/1500 by AFP and other markers. A sonogram today showed an intracardiac echogenic focus which along with her age put her Down risk at 1/833. The perinatologist told us their amniocentesis risk is 1/1500.My wife is reluctant to do the amniocentesis. What is your opinion on the isolated ICEF as a risk factor in a 40 year old.She is of mixed ethnicity: African American and East Indian?

   

• At Thu Oct 22, 10:55:00 PM 2009,  Anonymous said…

  Dear Dr. Trofatter,
  
  I am a 28 year old Malay Singaporean mom-to-be and currently I'm in my 27th week into the pregnancy. We are expecting a little princess!
  
  For my first trimester screening, I had good results with a nuchal fold of 1.6mm and they found a nasal bone. My risk of having a DS baby stood at 1:3000, which I think is very good. At 20 weeks, we had the anatomy scan where they found that my baby has a mild tricuspid regurgigation and a persistent right subclavian artery in her heart, both of which I was told are markers of Downs Syndrome. With these findings, my risk of having a DS baby increased 25 fold and upped my ratio to 1:130.
  
  My Dr suggested doing the amnio but I had decided against it as my husband and I are willing to keep the baby and love her as she is irregardless and am not willing to risk losing her to amnio, but then again there's no other way to find out without any invasive testing to keep our minds at ease.
  
  What are your thoughts on these and what are my chances that my baby will be a healthy little girl?
  
  Best Regards,
  Shiqin

   

• At Tue Nov 03, 06:17:00 PM 2009,  Anonymous said…

  Hi doctor I just received my first trimester u/s results
  I am 39 and will be 40 when I have the baby. I got pregnant as a result of 1st IVF cycle. My questions are 1)Could ivf drugs affect levels. 2)Could anything else affect papp-a levels 3) How concerned should we be. I am trying to decide on the amnio.
  Free Beta MOM 1.27(60th percentile)
  NT 0.90 mm
  Risk before screening 1/86
  Risk after screening 1/113
  Papp-a mom 0.33 (5th percentile)

   

• At Fri Nov 06, 06:33:00 AM 2009,  B said…

  Dear Dr. Trofatter,
  
  I am 27 yrs old,Indian,just completed my 22 wks.My Anomaly scan at 20 wks showed an absent/hyploplastic nasal bone and I underwent amniocentesis and the FISH results came back as "normal". I am told after the U/S that the baby is normal except for the isolated marker for DS. What I am worried about now is:
  
  1. Are there chances that the baby could develop other abnormalities after 22 weeks inspite of testing negative for DS?
  
  2. The complete results are not out yet,so are there chances that there could be other chromosomal abnormalities that could have led to the absent/hypoplastic nasal bone?
  
  3. Would there be any other problems with the baby because of the absent/hypoplastic nasal bone after birth if there are no other problems?
  
  Thanks for your time and your advice is highly appreciated.
  
  Best,
  
  B

   

• At Tue Nov 10, 03:08:00 PM 2009,  hobbes said…

  Dr T, I hope you see this in time to help me and sorry coz I think I posted in the wrong place earlier. I am 40.5 years old and will be 41.2 by the time I deliver. We have conceived with some difficulty following a miscarriage after an IUI conception last year. This conception was natural.
  
  I had my nuchal screening test at 12 weeks 6 days and my dr said the results are very good for my age, less than 1 in 10000 for both t21 and t18. Exact results are
  
  CRL 65.7 mm, NT 18mm, 107 MoM
  PappA 3.74 mIU/ML 110 COR MoM
  Free b-HCG 11.2 mg/ml 0.21 COR MoM
  
  I know I shd be reassured by my results but I cannot get the risks of a late-age pregnancy out of my mind and am still wondering whether I shd get an amnio. What is your advice?

   

• At Thu Nov 12, 05:10:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Connie Oct 10: I think all of your thoughts are intriguing and may have some merit, but in all honesty, I don't have an answer! Have you discussed these ideas with a specialist in REI? And, if you have, is there someone they might refer you to who is a 'specialist's specialist' with an interest in ovulatory dysfunction who might be able to help. My initial recommendation would still be to consider the clomid or another ovulation induction drug sometime in the near future. Please keep me posted on what you find out, what you do, and how things turn out! As always, I wish you the best!
  Dr T

   

• At Thu Nov 12, 05:12:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Melissa Oct 15: I simply recommend waiting for the final results from the CVS at this time. Please let us know what you find out and we are all keeping our fingers crossed for you!
  Dr T

   

• At Thu Nov 12, 05:20:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To andrewj Oct 15: With her ethnic background, I would ignore the EIF and base my decision on the screening tests. The risk of the amnio is low, but there is still that 1 in 1500 risk even in the best of hands. Of course the final decision is yours and I wish you the best of luck!
  Dr T

   

• At Thu Nov 12, 05:24:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Shiqin Oct 22: I think you have a beautiful attitude and at this point so late in the pregnancy, there is no reason to find out for sure until the baby is born. The odds are still in your favor that the baby is chromosomally normal and you will love her regardless. Best wishes and kindest regards! Let us know how things turn out.
  Dr T

   

• At Thu Nov 12, 05:28:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 3: IVF pregnancies seem to be more often associated with abnormal screens for reasons that are unclear to me. I would still base the decision on your comfort level with the screening result you have been given. There are many women who will wait until they have a genetic sonogram at 18-20 weeks under circumstances such as yours to make their final choice regarding an amnio, but I cannot make that decision for you. Best wishes and anticipation that the rest of your pregnancy will go well. Please let us know.
  Dr T

   

• At Thu Nov 12, 05:31:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To B Nov 6: Certain ethnic backgrounds increase the chance of finding a 'hypoplastic' nasal bone. If the baby is chromosomally normal, it is unlikely that the ultrasound findings indicate any problem with your baby at all. Best wishes for the rest of the pregnancy.
  Dr T

   

• At Thu Nov 12, 05:35:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To hobbes Nov 10: Personnally, I could not recommend an amnio with those test results unless something was found by ultrasound that would increase your risks. I have a lot of faith in the screening tests, but there are false negatives and they certainly do not pick up all chromosomal abnormalities for which you are at risk because of your age. If you need the reassurance of knowing for sure and understand the risks of amniocentesis, then you need to do what is right for you. No one can make that decision but you! Let us know how things turn out!
  Dr T

   

Post a Comment

<< Home