Fetal Nasal Bone Assessment in First Trimester Screening for Aneuploidy

80 Comments:

• At Wed Jul 09, 12:50:00 PM 2008,  Tamara Wiley said…

  Dr. T,
  I ran across your blog trying to find information about preterm labor and miscarriages. I am 25 yrs old and just suffered a second loss because of preterm labor (this one at 18 weeks/ just received second dose of progesterone injections- and the first at 24 weeks). Both seemed like healthy pregnancies as far as blood tests and watching the cervix. Both labors were sudden and started as pressure that turned into pain with bleeding within 5 hours of onset, and both were preceded the night before by intercourse. For the most recent, the perinatal specialist recommended a cerclage at first and then decided on the injections and checking the cervix every 2 weeks. For background, I had a 1st trimester abortion at 18 yrs old and a coloposcopy at 23. I have a few weeks before I go back to my obgyn and they run more tests. Do you think it is possible for my to carry a pregnancy to term or close to term? Is there any course of action that you would recommend for someone in my position (such as progesterone, cerclage, bed rest, or eliminating sexual activity) with the limited info that you have? Thank you.

   

• At Fri Jul 11, 11:41:00 AM 2008,  Anonymous said…

  Dr. T
  My daughter is 26 at a regular ultrasound her baby was diagnosed with a large cystic hygroma. At first they did not see the lower half of one leg. Now they still do not see the "nasal bone". Her MD told her she needed a CVS. The results of which returned today. The baby has Turners Syndrome. Her MD told her they did not expect her baby to live due to the cystic hygroma. (fetal demise) She can not wait to see if that will happen. She will be 14 weeks this coming Monday. If she has not aborted by then she can not do it in state, and the cost is prohibitive even now as is. I guess what I would like to know is how bad, mentally and physically can Turner Syndrom be? Are we just looking a healthy girl with hormone problems, that will need surgery to correct the hygroma or are we looking at brain damage, heart or liver damage, or what? I want to talk her out of the abortion but don't know what to do. Thank you. I'm so sorry I need help right away. She has scheduled it for 10am tomorrow since she will be too far along next week. (just got info on CVS today) Kathie

   

• At Sat Jul 12, 06:04:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tamara: With your obstetrical history and the predisposing factors, you appear to have a very incompetent cervix. I would recommend a cerclage at about 13 weeks, progesterone to start any time after that, and you probably should avoid intercourse in midtrimester. Sorry, but that combination is your best bet to carry to good fetal viability. Let me know when you get pregnant again and find a doctor who is very experienced in placing a good cerclage. Dr T

   

• At Sat Jul 12, 09:00:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Kathie: I am so sorry. if the cystic hygroma is very large, there really is a high probability the baby will not survive in utero. The outcome with Turner syndrome is highly variable. Some of thes babies will ahve no problems other than related to the physical apperance, and others will have major malformations and developmental difficulties. In the end, you must let your daughter make a decision that is right for her based on her understanding of the information she is given. Fortunately, the recurrence of Turner's is unusual with a subsequent pregnancy. My heart goes out to all of you because this is always such a difficult situation. Your daughter will need your hugs. Kind regards.
  Dr T

   

• At Tue Jul 15, 04:02:00 AM 2008,  Anonymous said…

  Dr. T - I am a little off topic here, but I have a question. I am 38 (will be 39 at delivery) and 12 weeks pregnant. I went in for my 1st trimester screen last week. The NT measurment was normal (1.5) but yesterday I received a call from my OB nurse who said that my blood tests were positive and that my risk for Downs was 1 in 210. To be on the safe side, they referred me to a genetic counselor for a consult even though I have no intention to do an amnio. If I am not mistaken, my risk of Downs is better than what would normally be given based on age alone, however, I am still concerned about the blood test because it was positive. They didn't give me specifics, only that it was POSITIVE. Are there false positives with these blood tests? Should I insist on more specific results? I should also mention that I had a miscarriage resulting in having to have a D&C in early Feb. Got pregnant in late April.

   

• At Tue Jul 15, 11:22:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 15: you are defined as "screen positive" becasue the lab cutoff for the COMBINED RISK ASSESSMENT ranges between 1 in 250 to 1 in 300 (the risk of delivering a baby with Down syndrome at age 35 - very arbitrary!). But, the number is what it is - another way to look at it is you have a 209 in 210 chance the baby does NOT have Down syndrome. And you are correct, it is actually less than half your age alone risk in first trimester. Usually with a reassuring result at your age, I simply suggest having a level 2 sonogram done at 18-20 weeks. A normal ultrasound at that point will reduce the risk by 50-90% depending on the skill and confidence of the sonographer. Best of luck. Dr T

   

• At Tue Jul 15, 03:54:00 PM 2008,  Anonymous said…

  I had the first trimester screening test done and have the following results:
  
  CRL: 65MM
  Gest Age: 12.7 wks
  NT: 1.77mm, 1.06MoM
  PAPP-A: 0.62 MoM
  HCG: 0.91
  Age at term: 43.9
  Screening Risk: 1:150 Down Syndrome
  Screening Risk: 1:2,300 Trisomy 18
  Age Risk: 1:24 Downs
  Age Risk : 1:84 Trisomy 18
  Risk cutoff: 1:220 Downs
  Risk cutoff: 1:100 Trisomy 18
  
  Would you please help to explain if the blood was in a good range and what the overall interpretation of the results should be?
  
  Thank so much for your insight. TraSon

   

• At Wed Jul 16, 11:29:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To TraSon: Although technically you are still "screen positive" for Down syndrome (primarily because of your age), overall the results are quite good. Your age alone risk is 6 times greater than your combined risk assessment score! Chance are the baby is normal. You may still opt for an invasive diagnostic study if you want to know for sure, but many patients in your situation (and at your age) will simply have a level 2 ultrasound done at 18-20 weeks. If that is normal, your risk is reduced another 50 to 90%. Good luck and let us know how things turn out. Dr T

   

• At Thu Jul 17, 07:13:00 PM 2008,  loretta said…

  Dr. T,
  I am 37 years old and 16 weeks pregnant. The baby has tested positive for Down syndrome and has a cystic hygroma in the posterior neck measuring 8mm and heart issues. I am having trouble finding any histories of babies with DS that have had the fluid resolve itself. Can you give me a possibility of this or of the quality of life/health for my child?
  Thank you, Loretta

   

• At Fri Jul 18, 07:24:00 AM 2008,  Anonymous said…

  Hello Dr. T,
  
  I have am 37 years old and am awaiting an amnio on the 28th. Until then I am worrying. The results of my NT and bloodwork are as follows. NT measurement was 2.9mm, PAPP level .93 and hCG level 1.53. My risk according to the report is 1/35, down from 1/86 before the screen! Do you have any words of encouragement? The 2.9 mm takes me above the 95th percentile...and this is what worries me the most. Also, I am looking at the US and do not see a nasal bone...I am not sure this was checked at my appoinment.
  
  Thank you,
  Jenny

   

• At Fri Jul 18, 06:10:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Loretta: The cystic hygroma is probably related to the heart abnormalities and in the end, the baby's prognosis will depend on how severe those are. If the baby goes into heart failure (hydrops fetalis), then he/she may well not survive the pregnancy. I am so sorry. Let us know how things turn out. Dr T

   

• At Fri Jul 18, 06:12:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jenny: I too am worried by the NT measurement, but the PAPP-A and the hCG are encouraging. Hang in there and let us know what you find out. Best wishes! Dr T

   

• At Sun Jul 20, 07:24:00 AM 2008,  Anonymous said…

  Hello again Dr. T,
  
  Thank you for commenting on my bloodwork numbers...I might be able to sleep till the amnio. Here's another question for you...
  
  My NT scan and bloodwork were done at 12 weeks, 2 days, but the crown-rump length measured 12.9 weeks. I am sure that my dates are correct and tend to grow large babies in utero. Would this discrepancy make a difference in my risk? The baby was younger than the CR length suggested. Does the nuchal fold grow with the baby or disappear with time through that 12th week? Thanks again.
  
  Jenny

   

• At Mon Jul 21, 06:50:00 AM 2008,  nikki said…

  Hello. I am writing on behalf of my sister and wondered if you could help to answer some questions we have. She is 15weeks 6days pregnant and has just had an amniocentesis. At her 12week routine scan she ws told the NT was 8mm. A week later she went back and was told there was a cystic hygroma measuring 13.1mm, and also had hydrops. A week later (14weeks) the cystic hygroma had grown to 20.4mm. At 15weeks 3days the heartbeat was perfect. Today at 15weeks 6days the heartbeat is still perfect, the hygroma is now 24mm but there is now fluid around the lungs as well as the stomach, but not the heart. Had an amnio and are awaiting the results. The amnio showed that the amniotic fluid was dark in colour and there wasn't that much of it. What does this show? what are the survival chances? and what is the chance of the hydrops developing on the heart? also the cystic hygroma has 3 chambers instead of the usual 2, what does this mean? is it worse? Please help to answer our questions as we are all so upset and would like to know where we stand, we have been told that it is most likely to be turners syndrome, and if it is, is it likely to be a bad case or can you not tell, please help, thank you.

   

• At Mon Jul 21, 08:21:00 AM 2008,  Kasia G said…

  Dear Dr. T,
  My name is Kasia and I just received the alarming results of the first trimester, early screening. I am 34 (will be 35 when baby is born in 01/2009) and I received the score of 1/71 risk for dowwn syndrome. I am mainly concerned about the nasal bone development as this high risk was, I believe, based on the lack of this bone. So could you please kindly tell me - how many babies statistically are born healthy having problems with this nasal bone development? (fetus age was - 12 weeks,4 days about). I know that good percent of Down syndrome babies have actually a nasal bone at this stage....
  Other results (how I can read them):
  Free Beta % : 50
  Free Beta MOM: 1,12
  PAPP-A% : 50
  PAPP-A MOM : 0.93
  CRL 62.5 mm
  NT 1.8 mm
  NB: A
  
  Thank you for your help!
  Best Wishes to Everybody!!
  KASIA

   

• At Tue Jul 22, 06:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kasia: I am surprised your risk is as high as stated based on those test results. Your age alone risk for Down syndrome in first trimester is only about 1 in 228 and all the paramenters of the screening test are well within reassuring ranges. I guess I am surprises that the absence of the nasal bone would quadruple your risks under those circumstances. You might want to check with your doctor to see what your risk would be without including the absent nasal bone (since it is not the most reliable marker anyeay at that gestational age) or double-check the correct information was sent to the laboratory to begin with. Kind regards, and please let us know.
  Dr T

   

• At Tue Jul 22, 06:29:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Nikki: I am sorry, but what you describe is not good. If the fetal hydrops is worsening, and the fluid around the baby is decreased, this most likely indicates congestive heart failure - due to a major heart malformation and/or a fetal chromosomal abnormality. In my experience, most babies in this situation will not survive much longer - but I wouldn't mind being proven wrong. My heart goes out to all of you. Please let us know what happens. Dr T

   

• At Tue Jul 22, 07:10:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jenny: Most labs that perform and interpret first trimester screening do not use the gestational age anymore - they base their interpretation of the serum marker results on the crown-rump length (CRL) of the baby. That could lead to slight aberrations in the test results but is generally more reliable then other measures for the sake of consistency. The nuchal translucency can vary in width even in perfectly normal babies during the first trimseter and all bets are off if the baby actually has an underlying cause for an increased measurement such as a chromosomal or/and a cardiac malformation. Keep us posted on what you find out. Dr T

   

• At Wed Jul 23, 08:45:00 AM 2008,  Kasia G said…

  Dear Dr. T!
  Thank you very much for your words it means a lot to me! I talked to my doctor yesterday who said that the risk was increased not due to the ultrasound (which inself brought me up to adjusted risk 1:4178) but the bloodwork results. Apparently one protein was off and that's why the result was 1:71. How reliable are these blood tests? the lab (GeneCare) also says that the test cannot be repeated because all repeat studies show high rate of false negatives which can falsely reasure the mother....
  All the best to you Dr.T and big thanks for helpin mothers in distress......
  KASIA

   

• At Wed Jul 23, 01:43:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kasia: This is where I am confused. All of the blood work results you showed to us is perfectly NORMAL. That's why I was wondering if there was some mistake in the information that was sent to the laboratory or perhaps you were given incorrect results. Something does NOT add up here! But, that works to your advantage because it increases the likelihood that there is nothing wrong with the baby. Dr T

   

• At Thu Jul 24, 08:42:00 AM 2008,  Kasia G said…

  Dear Dr. T,
  I called the GeneCare lab today and asked for the explanations and they said that the 1:71 is a calculated risk considering bloodwork AND ultrasound. Genetic counselor I talked with today also said that the bloodwork looked fine and that most likely the ultrasound (and the absent nasal bone)increased the risk to 1:71. She said that this all is calulated by an complcaded algorithm and she could not answer why is the final result inconsistent wiht the adjusted risk after the ultrasound 1:4178 !
  Very suspicious, and alomst makes no sense to do this test at all! Every doctor I talk to says that it is too early to conduct any testing in such early gestation stage (12 weeks) since the fetus is not well developed anyway...
  Thank you for your encouragement Dr. T, all the best!
  KASIA

   

• At Thu Jul 24, 04:33:00 PM 2008,  Anonymous said…

  I was looking for information on First Trimester screening results and ran across your blog. I have had an amnio and currently am waiting for the results, although I feel like I am on pins and needles. We have not told anyone of my pregnancy since I am already at an elevated risk due to my age (41) will still be 41 at delivery. Can you help me understand the results from the FTSR. NT 3; hCG 1.79, PAPP-A 1.42 and the Nelta NT +1.26 CRL is 76.7. I just don't know what all the numbers mean.
  
  Thank You,
  Stephanie

   

• At Thu Jul 24, 06:59:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kasia: I bet this baby is just fine! Let me know if I'm wrong and I certainly hope and pray I am not! Dr T

   

• At Sat Jul 26, 03:07:00 PM 2008,  Anonymous said…

  Thanks Dr. T,
  
  My doc had me come in to look at the baby at 14 weeks to help me relax! We saw a nasal bone, all its beautiful little finger bones, kidneys and bowels without fluid, and perfect long bones:BPB (?) ratio. All reassuring. I canceled my 15 week amnio and rescheduled for a genetic ultrasound with possible amnio if soft markers are found at 17 weeks. Do you agree with this path? Again, I am 37 with calculated risk of 1/35, PAPP-A=.93, hCG=1.53 and NT 2.9mm at 12.9 weeks. We have so many tough decisions to make, knowing you're reading and offering guidance is a blessing!
  
  Jenny

   

• At Sat Jul 26, 05:05:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Stephanie: The important thing is what was your composite risk assessment from all those numbers, not what the individual values mean! Let me know that and I may be able to be more specific. Dr T

   

• At Mon Jul 28, 11:52:00 AM 2008,  CiproDawn said…

  Dr. T,
  Thank for providing us with compassion and education, so many physicians seem to like keeping patients in the dark. I am 39 and my down syndrome risk was1:65. I was 11 weeks 4 days when the test was done. All the blood work was normal as was the N/T. I am on pins and needles because the nasal bone was absent. What should I be expecting?
  
  Thanks for all you do,
  Dawn
  P.S for those who are scared of the amnio I found it to be painless and a lot better than I expected

   

• At Mon Jul 28, 01:57:00 PM 2008,  Kasia G said…

  Dear Dawn,
  I am in the same situation, (I am 35)ultrasound did not show a nasal bone, BUT - it does not necessarily mean tha the bone was not there! I had my scan at 12 weeks and 4 days. As Dr. T says - the nasal bone is not the most reliable marker at this gestational stage!
  My doctor recommended waiting patiently until the 18 weeks anatomy scan. If everything will look great then - it will almost certinly mean that everything is all right. I wish you good luck and hang in there! You ar not alone, we only fear of what's unknown but I decided not to do the amnio and not to fear anymore! tat does not help the baby!
  KASIA

   

• At Mon Jul 28, 04:44:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jenny: I think you are doing what's right for you at this point and that's all that counts. Keep us posted! We will be thinking of you. Dr T

   

• At Mon Jul 28, 04:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dawn: I am glad the amnio went well. You will have the answer within the next week or so, so no more second guessing and please let us know. We are all pulling for you. Dr T

   

• At Wed Jul 30, 11:04:00 AM 2008,  Anonymous said…

  Hello Dr T,
  Can you help to put things in order for me. I am went for a viability scan on Monday as was worried that symptoms had subsided. Having had 4 previous M/C was anxious to get things checked out. The baby looked fine to me but they decided to try to measure NT. They found it very difficult and I was moved to 2 different scanners and eventually they told me it was 4.1mm.
  I was told to go back today to be scanned by a conultant for a 2nd opinion and she took several measurements and the CRL gave a date of 11wk2 days. The NT measurements she gave us were 2.8mm and 3.1mm which she told us puts us on the high side of normal. I am 40 yrs and will be 41 at term. This is a frozen embryo IVF pregnancy which means the egg that this baby came from was in fact 38-39.
  Until this discovery we were aware of our risk of Downs Symdrome based on age alone but the consultant wasnt able to give us a risk factor as this is not done at the hospital. I have therefore had no bloods taken. I have been advised that I can just leave it at that or I can pay for a private full NT investigation which will look at nasal bone, bloods and NT measurements.
  I havnt slept since Monday and what was supposed to put my mind at rest has had me turmoil since, we were never going have a NT scan and had our dating scan at 9wk3day and were not due to be scanned again until 20wks.
  I am at a loss as to what to do from here. Any advice you can offer would be appreciated.

   

• At Thu Aug 07, 05:11:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 30: It sounds like so far you have been evauated by people who are NOT certified to be doing the evaluation and counseling. Who knows, everything could be perfectly alright! At this point, the answer to your question depends on how badly you need to know either before the pregnancy gets further along or at delivery. But, quite frankly, that decision may be easier to make once you have been examined and counseled by a qualifies consultant. Best of luck to you and please let us know what you decide to do and find out! Dr T

   

• At Thu Aug 07, 08:37:00 PM 2008,  Tammie said…

  Dr. T,
  I will be 36 when I deliver in January. I had the first trimester screen test when I was almost 11 weeks. The results came back as 1/44 that the baby could have Down's. I do not have the results in front of me right now but I know that out of all 4 tests only one was a little low. The PAPP-a was .87. All other results were fine and the NT measurement was good too. They also located a nasal bone at an appointment when I was 13 weeks along. I am super nervous and am getting an amnio next week because I cannot wait the whole pregnancy and worry constantly. I will have results next week. I guess my question is: should I be worried? The perinatologist said things look good and did not seem too concerned. I just do not like the odds. Thank you for your time!

   

• At Sat Aug 09, 05:51:00 PM 2008,  Anonymous said…

  Dr. T,
  I found your blog by searching for information on lack of a nasal bone. I am 30 years old and my quad test came back as 1 in 132 risk for downs. We had a level 2 ultrasound and were told that they could not see a nasal bone. There were white specks present in the abdominal area (echogenic bowel), other than everything else looked good. I am 18 weeks along. We were advised to do a amnio and a cystic fybrosis test, which we did. We are now waiting for the results. My question is how common is it that a nasal bone could be missed in a sonogram, or that the nasal bone could not be present in an 17 week old fetus. Also, can different facial structures that are not associated with Downs also contain a very small or undeveloped nasal bone at this fetal age? And how common is an underdeveloped nasal bone in a health baby with no other indicators. Thank you so much for your time.
  JE

   

• At Sat Aug 09, 06:10:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tammie: The odds may not be good, but if the perinatologist was reassured by what he/she saw, try to relax a little. Even at 1 in 44, the odds are in your favor. Besides, there is nothing you can do to change the baby's chromosomes at this point, and you will have the final answer VERY soon. I wish you luck and we will all be pulling for you! Please let us know. Dr T

   

• At Sun Aug 10, 11:42:00 AM 2008,  Tammie said…

  Thanks Dr. T. I just found my test results:
  
  NT 1.65mm,
  CRL 39 mm,
  Gest age 10.4 wks,
  Nuchal Translucency 1.83 MoM,
  PAAP-A .47 MoM,
  hCG .87 MoM.
  
  I also just read that: "In pregnancies affected by Down syndrome there is a tendency for the levels of human chorionic gonadotropin (hCG) to be increased and pregnancy-associated plasma protein A (PAPP-A) to be decreased" How true is that? If so, my hCG was not elevated, my PAPP-A was low. I guess I will find out in the next few days, I am just really really nervous. Even though the Dr. said physically things look good. Thank you for your time!!!

   

• At Sun Aug 10, 05:03:00 PM 2008,  Mandy said…

  Dr.T,
  I am 33 years old and had the nt measurement done and the triple screen test. They found my due date to be sooner than thought...thought I was 12 weeks and 4 days at test but I was 13 weeks and 4 days...Anyway here are my results:
  
  crl 75.5
  pappa .93
  hcg 2.35
  nt mesurement 2.7
  
  They came back with a 1:29 chance of having a baby with downs. I had the amnio done and an awaiting the results. The level 2 ultrasound at 16 weeks showed the baby looking perfect but they didn't change my risk factor? Also I read that you can't do the triple screen after 13 weeks and 4 days but the counselor said all that mattered was the crl to nt measurement not the due date. Is this correct? Very confused...Help...Mandy

   

• At Tue Aug 12, 07:47:00 AM 2008,  Anonymous said…

  hi DrT
  Found you website reguarding amnio risks..
  I was wondering if you could advise me. I just found out I am pg and I am only 4 weeks. I am 41. 3 years ago in Oct I had a dd and she had T18. I had the blood test which came back low risk and wasn't offered an amnio. I had a detailed scan at 20weeks.. and nothing was detected..(not even the hole in her heart). I ended up having more scans as she was small for dates, and they also found that she had restricted flow through her cord..(maybe due to the fact it was so tiny).. But during all the scans nothing was ever detected by lots of different people so I can't put it down to one incompitent. Anyway when she was 4 days old we were told she would die before she was one. She made it to 7 weeks. My husband and I both had blood tests done and they came back normal so no translocation.
  I have been ttc since and got pg in Oct07 but had a missed miscarriage at 8weeks.
  I am now scared that with all the odds that are against me I will have more chromosomal problems and have more heartache. What are my chances? Thanks bex

   

• At Tue Aug 12, 07:03:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Mandy: Yes, they have been ignoring the "due dates" for awhile and are only using the crown-rump length and the NT measurement (with or without the nasal bone) plus the blood work and your age, etc...in determining the final risk assessment. So, the NT, hCG and your age are probably driving your result. The PAPP-A is actually very reassuring. Have you had big babies in the past? Anyway, I am not only pulling for you, but I am betting the baby will be just fine. Let us know when you get the amnio results and best wishes! Dr T

   

• At Tue Aug 12, 07:07:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To bex: At age 41 your first trimester risk for having a baby with a chromosomal abnormality is about 1 in 42 for Down syndrome (trisomy 21) and 1 in 22 for all chromosomal abnormalities. Thise risks will almost double by age 43. But, more and more women at your age are having babies and the odds are still in your favor if you are willing to take the risks and accept the heartbreaks (and the hard decisions that may come along as well). Good luck, sorry for your losses and keep your chin up! Dr T

   

• At Tue Aug 12, 07:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tammie Aug 10: I noticed that the CRL was only 39mm! Most laboratories cannot repport a risk result before the CRL is 45 or greater?!? I am confused why/how they were able toi give you the results. One can do the blood work earlier, but it is supposed to then be combined with the CRL and the NT once that threshold of 45 mm CRL is reached. Ask your doctor to explain. Dr T

   

• At Tue Aug 12, 07:52:00 PM 2008,  Tammie said…

  Dr. T.
  I will certainly ask my Dr. But I did research the CRL and it seemed to be within range of a baby that is 10 weeks 4 days. Also, I only did the first part of the screening test, I chose not do do the 2nd part after finding out I was "screen positive" for down syndrome with a 1/44 chance.
  
  Good news is, I had the amnio yesterday and got the results today. Everything is fine! I am so relieved. I worried for 5 weeks about this. Now I can enjoy the rest of my pregnancy and not put so much stress on the baby!
  
  Again, I thank you for your time.
  Tammie

   

• At Sat Aug 16, 01:28:00 AM 2008,  Anonymous said…

  dr t
  
  my partner is 39 and we conceived by icsi (we didnt want the risk of not fertilising the eggs.
  
  We yesterday had a nuchal scan at exactly 10 weeks from date of harvesting/fertilisation.
  The risk came back as 1:24 based on hormones and the lack of nasal bone.
  We have had a cvs and are awaiting the results.
  my partner had 2 consecutive rounds of ivf and the question is 2 things.
  
  firstly can the drugs alter the hormone level and were we too early for the presence of the nasal bone.
  
  thanks

   

• At Sat Aug 16, 03:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To JE Aug 9: Somehow I missed your queries while answering others under this post, so sorry for the delay. I have to trust that the people doing your study are skilled at nasal bone assessment - so I do not think it is so much a matter of "missing it" as it was either small (hypoplastic) or not present. Let me answer your questions this way: Although the studies in the literature vary, in midtrimester (15-22 weeks) about 2/3 of babies with Down syndrome have a hypoplastic or absent nasal bone compared to about 1% of chromosmally normal babies and perhaps 3% of babies with other chromosomal abnormalities. There are racial differences in nasal bone hypoplasia in chromosomally NORMAL babies. In 10-15% of babies with trisomy 21, nasal bone hypoplasia may be the only clinical finding at the time of a midtrimester ultrasound. In one study by Cicero, et al (Ultrasound Obstet Gynecol 2003;21:15-18), the 'likelihood ratio' for trisomy 21 with nasal bone hypoplasia was 50.5 compared 0.38 when the nasal bone was present. Hope this answer some of your questions.

   

• At Sat Aug 16, 06:49:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tammie Aug 12: Well, congratulations! Regardless of teh "screening test" results, you have a chromosmally NORMAL baby, so thanks for letting us know and best wishes for the rest of the pregnancy! Dr T

   

• At Sun Aug 17, 09:13:00 AM 2008,  Anonymous said…

  Dr t,
  
  my partner is 39 and we conceived uving icsi (we were concerned about not getting natural result through ivf and the associated cost.
  
  
  we had a scan and gestational age of the baby was 11 weeks and 4 days.
  
  there was no nasal bone present and the free beta hcg was 5.973 which appears very high.
  
  the risk was 1:24
  
  we had a cvs and are awaiting the results.
  nt was 2.3
  
  my partner is in a terrible state as you can imagine.
  
  does the hcg seem very high to you
  
  thankyou

   

• At Mon Aug 18, 10:08:00 AM 2008,  Anonymous said…

  Dr. T,
  Thank you for your answer. We did get the FISH test back and it shows everything normal. Now we are waiting for the amnio results but I feel like I am going crazy with each passing day that I do not have the answers. I have read and looked at 100's of sonogram pic. of babies with and without nasal bones. I stop,look, compare. The 3 markers they look for are there and I see them in every pic. of my baby and so does everyone else in my fam. Perhaps i am just trying to calm myself..
  I guess my question now is how often have you seen the FISH come back normal and the amnio shows downs? Thank you again,
  JE

   

• At Thu Aug 21, 11:09:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To JE: In all the years I have been in this business, I have yet to see a negative FISH result turn out to be Down syndrome on the final fetal karyotype. I know it is possible, but it is also VERY unlikely. Have a good rst of the pregnancy and I hope you enjoy your beautiful (and chromosomally normal) baby! Regards,
  Dr T

   

• At Fri Aug 22, 06:20:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 17: Yes, I am afraid that hCG is VERY high. Please let us know what you find out and we wish you the best. Dr T

   

• At Sat Aug 23, 06:31:00 PM 2008,  Anonymous said…

  Dr.T
  I am very sad to report that we are one of the VERY few FISH results that came back as normal and the amnio came back positive for tisomy 21. The lab re-ran the FISH the moment they realized the amnio contradicted it. My Dr. told me that the lab tech called it normal (perhaps misreading it)it was borderline? We had them check and triple check all the info and it all came positive for downs. Thank you for time.JE

   

• At Mon Aug 25, 12:10:00 PM 2008,  Kendra said…

  Dr. T
  
  I came across your blog searching for babies who have no nasal bone. I had an ultrasound at 21 weeks and my doctor said that my baby girl is totally healthy but they did not detect a nose bone. He said that could be a marker for down syndrome or because she is a girl, Turner Syndrome. Should there be other markers for Down Syndrome other then just no nasal bone? Like I said, that is the only abnormality they found. I live in a small town so they are sending me to the city in a few weeks to see if better equipment will detect a nasal bone and if not the next step would be an amnio. Obviously, nothing will affect the love I have for my baby girl but I'm still really really anxious and worried. Nobody wants their child to have a harder life then they could. So, I guess my question is...what are the odds that she will be born with down syndrome based on the one possible marker. :) Thanks for listening!
  Kendra

   

• At Tue Aug 26, 05:59:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To JE: I am so sorry. There are times that happens because the baby is a chromosomal mosaic, i.e., has two populations of cells, one normal and one with trisomy 21. Do they think that's the reason or did they just miss it somehow on the FISH? Kind regards, and thank you for letting us know. I will use your situation as an example to other readers who ask. Dr T

   

• At Tue Aug 26, 06:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kendra: The absence or hypoplasia (underdevelopment) of the nasal bone this late in pregnancy is a concern, even if it is the only finding. I have copied my response to another reader above: Although the studies in the literature vary, in midtrimester (15-22 weeks) about 2/3 of babies with Down syndrome have a hypoplastic or absent nasal bone compared to about 1% of chromosmally normal babies and perhaps 3% of babies with other chromosomal abnormalities. There are racial differences in nasal bone hypoplasia in chromosomally NORMAL babies. In 10-15% of babies with trisomy 21, nasal bone hypoplasia may be the only clinical finding at the time of a midtrimester ultrasound. In one study by Cicero, et al (Ultrasound Obstet Gynecol 2003;21:15-18), the 'likelihood ratio' for trisomy 21 with nasal bone hypoplasia was 50.5 compared 0.38 when the nasal bone was present. Hope this answer some of your questions. See what the specialist have to say and let us know what you find out. Good luck! Dr T

   

• At Wed Aug 27, 08:03:00 AM 2008,  Anonymous said…

  Dr. T,
  When my husband and I went in to speak with the specialist they told us that the baby did not have chromosomal mosaic, just trisomy 21. Which they went on to explain that was good due to the chance of it happening again was slimmer. What they told us was that the FISH was borderline, leaning toward the normal side so the lab tech called it normal....? When the amnio contradicted it they re-ran the FISH and it came up more on the abnormal side>>? Of course that made us second guess everything and ask to check double check and triple check EVERYTHING. They assured us that it was all accurate and coupled with ALL the test including the level 2 sonoghram findings ( no nasal bone, echogeal bowl, and they could not see the 4 chambers of the heart)there was no doubt.
  We decided not to proceed with the pregnancy and are just praying that in a few months we can try again. I do have a question. Based on all the info I have posted do you think we should go through genetic counselor to rule out that there is nothing wrong with us? What are the chances that this could occur again? I am 30 and my husband is 35. This was our 1st pregnancy.
  Thank you,
  JE

   

• At Wed Aug 27, 08:21:00 AM 2008,  Kasia G said…

  Hello Dr. T,
  This is Kasia writting again. I just had my 20 weeks anatomy scan today and they were looking very closely at the nasal bone(I had an absent nasal bone in the first trimester screening) If I am not mistaken (by all the stress) the size of the NB today was 0.7 and the doctor said that this is the low treshold but still within the normal range. Everything else was absolutelly fine and looking good.
  Should I be concerned or can I take a deeper breath?
  THANKNYOU very much for all your help!
  KASIA

   

• At Wed Sep 03, 06:32:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kasia: If they saw absolutely nothing else wrong with the baby and the baby is growing well, the odds are inyour favor he/she is fine. Best wishes for the rest of the pregnancy and please let us know how things turn out. Many other readers will be interested in knowing! Dr T

   

• At Wed Sep 03, 06:35:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To JE: If the baby had trisomy 21, this was most likely a "chance" event and is not necesssarily an indication for genetic testing on you and your husband. It is always wise to seek counseling with a genetic counselor under these circumstances anyway. Kind regards,
  Dr T

   

• At Sat Sep 20, 07:02:00 AM 2008,  Anonymous said…

  Dear Dr. T
  I've been searching the internet for information about absent nasal bone since my nuchal fold scan yesterday.
  
  My results came out like this:
  My age (also at birth): 34
  Gestational age: 12+1
  CRL: 65.1 mm
  NT: 2.20 mm
  hCG: 54.600 IU/I, equivalent to 1.4450 MoM
  PAPP-A: 5.2427 IU/I, equivalent to 1.3101 MoM
  Absent nasal bone.
  
  Background risk: 1:331 Trisomy 21 and 1:589 Trisomy 13/18
  Ultrasound risk: 1:96 Trisomy 21 and 1:290 Trisomy 13/18
  Biochemistry risk: 1:187 Trisomy 21 and 1:4189 Trisomy 13/18
  Adjusted risk: 1:344 Trisomy 21 and 1:2047 Trisomy 13/18
  
  At first we were happy with the 1:344 risk. Then we searched on the internet and the absent nasal bone seems to be fatal - according to our reading. Only 0,5% of babies with absent nasal bone at this stage are normal!
  I am of course devastated and will seek further advise from the doctor on Monday.
  But howcome can I receive a result saying 1:344 - if the absent nasal bone is so fatal?
  I live in the UK, are things/screenings different here?
  KR and thank you, Tina

   

• At Mon Sep 29, 12:35:00 PM 2008,  Anonymous said…

  Hi My name is Elizabeth (31)and I'm very concern about my baby boy still. I had a ultrasound last week (19 weeks) and the specialist said that even tought I have no other reasons to worry they didn't see a nasal bone based on the other test everything looks normal but he also mentioned that this bone develops until the 28th week. I did the amnio and premilinary reports came back normal. My next ultrasound is 10/21. Should I be concern anyway is causing me to strees? Please help. Thanks Elizabeth

   

• At Wed Oct 01, 01:24:00 PM 2008,  lisamw1 said…

  I am 35yrs and had a nuchal scan last week at 14wks pregnant. It showed no nasal bone and a neck measurement of 3mm giving me a 1:2 risk of downs. Yesterday I had a cvs, the results came back today and were normal. Is it possible to have a healthy baby after the results of the nuchal scan? I want to accept the normal result from the cvs but I'm afraid to incase its wrong.

   

• At Thu Oct 02, 03:05:00 PM 2008,  hj said…

  Hello Dr. T,
  I received news today that I had high risk triple screen results -1 in 111 for Down syndrome. I am 34 and 12 weeks 3 days with a due date of 04.12.08. The NT results were - 2.0
  HCG was 2.9 (high)
  PAPP A was .73 (low)
  So even with a normal NT result my risk is still very high? Does my weight and height matter? I'm 5'8" and 132lbs. This is all so confusing and scary to me. Any information you could provdie would be much appreciated.
  Thank you, hj

   

• At Sun Oct 05, 05:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tina Sept 20: I don't know where you got your internet information, but it is dead wrong. Your composite risk of 1 in 344 is very good, even with the absent nasal bone! Odds are your baby is fine, but if you have to know for sure, simply have an amniocentesis done. If I am wroong, let me know! Best wishes. Dr T

   

• At Sun Oct 05, 05:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Elizabeth: You will have the results of the amnio back in a few days and that should answr all your questions. Relax until then. You have done everything you can and there is nothing you can do to correct a problem with the baby if there is one. BUT, I bet there is not! So let us know what you find out. Good luck!
  Dr T

   

• At Tue Oct 07, 10:04:00 AM 2008,  Anonymous said…

  Dr. T
  I had my first trimester screening and my risk factor is 1/79. I will be 38 years old when I deliver. My ultrasound went great and was quoted a 1/1600 risk factor by them. My measurement of the back of the neck was .86 at 12 weeks 6 days. My bloodwork though was what has brought me to the 1/79 number. I don't have the results of the bloodwork handy. My question is if both the ultrasound tech, and the doctor both seemed very positive and not alarmed should I be very concerned about the bloodwork. I have scheduled an amnio on the 28th to be sure, but I am just very confused.Thanks for you time.

   

• At Wed Oct 08, 05:20:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To lisamw1: Absolutely, in fact the odds are now in your favor that the baby will be normal. You will need to have the baby screened for a cardiac malformation later in pregnancy, but a slightly widened NT measurement is not all doom and gloom as you have found out from the CVS. Good luck and let us know hpow things turn out along the way! Dr T

   

• At Wed Oct 08, 06:38:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To hj: The NT is fine, the hCG is high, but the PAPP-A is not really low. The difference in the multiples of the median in those two values is probably what is driving your risk more than the absolute value of th PAPP-A. The composite result is what it is, however, another way to look at it is that you have a 110 out of 111 chance the baby does NOT have Down syndrome. Many womne in your situation will simply opt for a 'targeted' ultrasound at 18-20 weeks. If that is completely unremarkable, your risk (using the screening test result as the a priori risk) will be reduced at least another 50% (if not 60-80%). If you are frightened by the result, then an amniocentesis in a few weeks will give you the answer. Best wishes and let us know how things turn out! Dr T

   

• At Fri Oct 10, 02:04:00 PM 2008,  Anonymous said…

  Hi Dr. T, I am 35, just got my NT scan results:
  
  NT 2.8mm
  CRL 68.3
  HCG .86
  PAPP-A 1.00
  
  They said at my age my risk assesment is increased to 1/197. Should I go ahead with an amnio. I saw you mentioned something about having big babies in the past. I had 11 pound and 9 pounds babies does that matter? Thanks. Antoinette

   

• At Wed Oct 15, 07:44:00 AM 2008,  Elizabeth said…

  Dr. T;
  Is Elizabeth;
  Amnio results were normal as per the genetic counselor and my doctor said I should start enjoying my pregnance based on the amnio and facts. What happens if in the next ultrasound 10/21 the nasal bone still does not show? Please advise Thanks for your help.
  Elizabeth

   

• At Fri Oct 17, 11:22:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct &: The NT testing alone will detect only about 50% of the baby's with Down syndrome in first trimester. So, yes, the blood work is very important. It pushes the detection rate to almost 90% with a false-positive rate of about 5%. You composite risk is still only slightly higher than your 'age alone' risk, so don't panic at this point. But, an amnio should certainly be considered under these circumstances. Good luck and let us know how things turn out. Dr T

   

• At Sat Oct 18, 04:15:00 PM 2008,  Anonymous said…

  Dr. T,
  I am anonymous from Oct. 7. I just want to give you more accurate #'s. First of all the nt.measurement wasn't .86, it was 1.4, and the papp mom was .86. I spoke with the nurse who handles all the first trimester screening and she is still a bit baffled as to why the nt ultrasound didn't bump me out of the high risk area. I asked her also how many women in my position have come back positive after the amnio. She looked back a year and every one that has screened positive and tested positive after the amnio the ultrasound doctor had seen. Meaning at the ultrasound the doctor was able to detect a problem. My ultrasound came back very favorable and I am hoping I am not her first patient that wasn't detected at the ultasound. She also said that she won't be surprised if I come back negative for down syndrome. So i am just staying as positive as I can and will give you the results after my amnio. Thanks for your time Dr. T.

   

• At Wed Oct 22, 04:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 18: Thanks for keeping us updated. Everything will probably be just fine from what you have told me. Best wishes for the rest of the pregnancy. Dr T

   

• At Thu Oct 30, 06:57:00 PM 2008,  Anonymous said…

  Hi Dr. T - I am currently 20 weeks pg. with twins - we conceived with IVF and icsi due to tubal issues. I am 31 (will be 32 at EDD) and my husband is 42. My NT test at 12 weeks was normal, we opted against the quad screen due to possible problems with interpreting results due to twins. At the 20 week anatomy scan our baby girl had a 'speck' in her heart. They could see four chambers, but there was this little calcified area. The doc. said is changed my risk for Down's from 1/720 (age related) to 1 in 360. There were no other abnormalities noted, and the baby boy had no issues. I am still very worried - he didn't recommend an amnio due to the risk ratio. Is this a high risk for Down's - should I be worried or can this happen and the baby still be healthy? Thanks for your help and time, Judy.

   

• At Thu Oct 30, 06:57:00 PM 2008,  Anonymous said…

  Dear Dr T,
  
  I am 35 and will be 35 when my baby is born,I have a 5 year old healty kid.Now I am 11 weeks pregnant.I went for my blood test last week and today I got the report.My free beta HCG is 1.859 and PAPPA is 0.756.My nurse said that I have a risk factor of 1/157 for trisomy 21 and 1/5000 for trisomy 18.How concerning is this.I have to do my NT tommorow.Also should I go for CVS or amniosynthesis.
  Thanks a millon in advance.
  Mandy

   

• At Mon Nov 03, 03:00:00 AM 2008,  VanessaW said…

  Dear Dr. Trofatter,
  
  I am 32 and 13 weeks pregnant, and recently moved from the US to New Zealand. The only component of first-trimester screening available here is the NT scan, which we had done at 12w4d. The scan showed an NT measurement of 3.2mm, which I understand to be about 2.05 MoM (I calculated this myself, was not given this information by any medical professional). CRL was 67mm, nasal bone was present (though not included in calculation of risk assessment), fetal heart rate was 161bpm, BPD 21.0mm, everything else appeared normal.
  
  Based on these findings, I was given a risk for Down syndrome of 1:33, elevated from a baseline risk of 1:428 based on age alone.
  
  I would like to avoid amniocentesis, and have decided to escalate non-invasive tests first. I will have the triple blood screen (quad not available in NZ) at 15 weeks, and a structural ultrasound at 18 weeks. They also recommended fetal echocardiography at 23 weeks to rule out congenital heart defects.
  
  Here are my questions for you, and I would be very grateful for your insights:
  *how reliable is the combination of first-trimester NT scan and second-trimester triple test? I was told there is an algorithm to produce a combined risk assessment based on these two tests, but have not been able to find any information on this, as it appears to be an uncommon combination of screening tests.
  *how much can the results of the triple test potentially lower my risk based on NT measurement alone?
  *can you direct me to the source of your statement that a normal 18 week scan reduces the prior risk assessment for genetic abnormalities by 50-90%?
  *what is the likelihood of major congenital heart defects if the 18 week scan shows no cardiac abnormality? Although I understand that fetal echocardiography improves outcomes for fetuses identified to have major CHD, I am concerned about non-conclusive findings. How many false positives does fetal echocardiography result in? (this would be done in a maternal-fetal medicine unit by a specialist sonographer)
  
  As everyone else here, I'm very happy to have found your blog and thorough explanations of aneuploidy screening, and grateful for the time you put into answering questions generated by your posts. Thank you in advance for any information you may have!
  
  Vanessa

   

• At Thu Nov 06, 07:55:00 PM 2008,  Anonymous said…

  Dr T,
  I am anonymous from Oct. 18. I have good news to share with you and anyone else that might be worried because they screened "high risk". I recieved my results from my amnio today and everything is great! I am carrying a very healthy baby boy! I want to say thank you for all the information you put out there Dr. T!

   

• At Mon Nov 17, 11:54:00 AM 2008,  Jennifer P said…

  Dr. T -
  I have just received my first trimester screening results and am unfornately (or fortunately, depending on how you look at it) in the gray area with respect to further testing. My odds of having a Down Syndrome baby are 1:353 and the recommended cutoff for amnio according to my doctor is 1:300.
  
  Age: 30
  NT: 2.4
  Free Beta hCG: 2.16
  PAPP-A: 0.79
  Nasal Bone: Present
  
  I was wondering if you could tell me, what of these is the "strongest" indicator / contraindicator of Down Syndrome? Should I be very worried about my test results? I am afraid my odds with these results would be much worse if I was 35 and that my age is the only thing keeping the "falsly" low.
  Also, I lost a previous pregancy in May of this year at 16 weeks and I was wondering if that pregnancy could affect these results? My screen results for that pregnancy were NT-2.3, Hcg-0.52 and PAPP-A-1.00. Is there any chance I am just prone to having babies with a high NT? Why would one pregancy hcg reading be so different from the next for the same woman?
  
  Sorry for such a long post. I do love reading your blog because of it's complexity. You assume that you have a smart reader and include many technical details which I appreciate. I used this blog as a reference for deciding whether or not to get progesterone shots as well. So thank you very much!
  Jennifer P

   

• At Wed Jan 21, 04:16:00 AM 2009,  Anonymous said…

  Hi,
  I too, have recently been told that I screened positive in my FTS. I was 12 weeks-CRL, but according to my cycle - 11 weeks 1 day. My NT was within normal range and my maternal serum was normal. I had a miscarriage the year prior and testing showed that the baby had trisomy 21. I am 36 and will be 36 years old upon delivery. I am very scared and don't understand where to place my thoughts - to prepare for downs or be 98% hopeful. My ratio is 1:70, but the geneticist had a very grim tone about the absent nasal bone...btw, I am 50% Korean. My question is how reliable is the positive screening for downs when the NT and blood are within normal range but the nasal is absent?

   

• At Thu May 28, 11:45:00 AM 2009,  Kasia and Amelia said…

  Dear Dr. T,
  I promissed I will give you an update after the baby is born. My name is Kasia and I wrote couple of posts related to an absent nasal bone in the first trimester screening back in July of last year. I did not do amnio even though I was given a high risk of having a Down's syndrom baby. I am glad I did not do amnio because I would have been just reassured that I DO NOT carry a baby with Down's. Well, it turns out there was a problem after all. My little girl Amelia was born with achondroplasia which is a form of dwarfism and is caused by random GENE mutation, having nothing to do with chromosomal abnormalities.
  Amelia is doing fine, we are waitig for MRI and CT scan results. I just thought you will find interesting that the absent nasal bone showing on the ultrasond could also indicate a totally diferent problem....
  Thank you for all your help and support!Kasia G., Connecticut

   

• At Thu Jun 04, 04:57:00 PM 2009,  Sally. said…

  To who ever can give me advice or answers. i am 16 years old and exspecting a baby girl, she was due the 1st of june 09 but shes a few days late, at my 23 scan i was told my baby had a hypoplastic poorly formed nasal bone which puts her 1 in 100 risk for downs syndrome, im so scared. my baby is due any day and im really scared is there a chance she could be healthy, im mixed race and so is my boyfriend could she just have a flat nose? im really scared please reply to this as soon as possible as shes due any day now. i will love her no matter what but i really prey she's healthy. apart from the nasal bone everything else is fine. thanks from sally x

   

• At Tue Jan 05, 10:24:00 AM 2010,  Anonymous said…

  I am so glad I found this site!
  
  We had our NT scan done on Dec. 22, 2009. At that time my gestational age for the baby was 11w2days.
  At the time of the u/s though the baby measured from crown to rump at 12w1day.
  
  Our u/s was great...nasal cavity completely great, fluid in the neck measuring barely at 1.00 mm, and nothing else sticking out to the doctor. She was very pleased with the scan.
  
  A week later we get a phone call telling me our odds are at 1:67 b/c of the bloodwork.
  
  Free beta hcg MoM 2.51
  PAPP-A MoM .48
  NT mm 1.00
  
  I am 35 years old and will be at the time of the baby's birth.
  
  I am scared out of my mind...but feel it is too risky to do an amnio. And for personal reasons my husband and I have decided against the amnio.
  
  I would like your interpretation of these results and what you recommend I ask for during my next OB visit in a week.
  
  Thanks!
  Anne S

   

• At Sat Jan 09, 08:09:00 AM 2010,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anne S Jan 5: Your risk is being driven by the low PAPP-A and the comparatively high hCG (as well as the large difference in the MoMs between those analytes) as well as your age. Even if a 'genetic sonogram' at 18-20 weeks is completely 'normal' (normal fetal growth; no major abnormalities; no 'soft markers' for Down syndrome), your risk vcan only be reduced by about 50% (some would say 60-80%). In experienced hands, the risk of an amnio should be only about 1 in 500 to 1 in 1000. I think that you need to decide for yourself how important is it that you know for sure before the baby is born whether or not he/she has Down syndrome. Wishing you the best and please let us know how things turn out!
  Dr T

   

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