Composite Results are the Strength of First Trimester Screening for Aneuploidy

22 Comments:

• At Fri Jul 10, 06:11:00 AM 2009,  Anonymous said…

  Hi Dr. T, I am 28 years old and have undetermined infertility. My husband and I tried on our own, even using Clear Blue Fertility Monitor to help conceive. However, it didn't help us, nor did Chlomid cycles. We have since been going to a fertility specialist for a year and have had seven unsuccessful IUIs, one IVF which was successful, but was found to be ectopic at 5 weeks. Three months later we a frozen embryo transfer and I miscarried again at 5 weeks. We are planning for Round Two of IVF, but afraid we may be wasting our money if I lose again. What would you suggest is wrong? What test would you recommend?
  Thank you,
  Still Hopeful

   

• At Sat Jul 11, 08:44:00 AM 2009,  Anonymous said…

  hello Dr T ,
  Iam 34 yrs old now i had my first pregnancy in 1997 when i was 22yrs old in which i was 8weeks & started bleeding had abortion next pregnancy was in 1998 when again in 8weeks i was bleeding i was on oral progestron & complete bed rest in 9th -10th wk i started beeding went for d&C my 3RD pregnancy was in 2003i started bleeding in 8 wk again& my obgyn put me on complete bed rest & baby ASA things went finei had normal delivery ,i was busy so i was on yasmine for 3 yrs i started to try for pregnancy again was unsucessful all my labs are normal , all bleeding test were normal before also & now too ,tsh , HSG, uterus in usg everything N i started with ivf 3months back i recently had retrival 1mth back during retrival they pressed my abd too much to get to my left ovary after retrival i had abd pain above my iliac bone for few days Drs Thought was musculoskeltal pain & ivfDr thought ovaries was still being stimulated from HCG they had given me, so they transfered 2 embryo grade A on 3rd day ,i still had ache on the left side i was on crenone as progesterone i took complete bed rest after the trf ofembryo still in 1 week i strted bleeding which was my regular date of menses Drs started immediate im progesterone i had also checked estradiol levels & progesterone level which were both low so now i was on im preogesterine & 2 estradiol patches (estradiol was normal during pre embryo trf visits )still after 5 days my HCG was neg & i was still bleeding like normal menses the aache near left iliac bone almost instantly went away as soon as i started bleeding .
  i dont know what went wrong here ?
  will i ever get pregnant again normally?
  i still have 3 frozen embryos what precaution should i take before their trf ?
  should i have been on baby ASA as with my 3rd sucessful pregnancy i had taken ?
  i still am not sure what my problem is? is it attachment of embryos to uterine lining ?how can i overcome that ?
  please help ! i really need your expert opinion thank you so much
  nidi

   

• At Mon Jul 13, 12:43:00 PM 2009,  Anonymous said…

  Dear Dr. T
  Im Currently pregnant with twins and just got my result for the first trimester screening. and results are listed below:
  
  my Age is 35y/o
  AOG during this test is 13 weeks
  
  
  
  NT 1.08 MoM/1.34 MoM
  PAPP-A 1.12 MoM
  HCG 1.49
  Down syndrome risk is 1:130
  Risk cutoff 1:220
  
  What is your interpretaion of this result? Please advice

   

• At Thu Jul 16, 11:24:00 PM 2009,  Anonymous said…

  Hi Dr T. I am 42 years old (will be 43 when baby is born). I have mitral valve prolapse, hypermobility syndrome and an irritable bladder.
  
  I am 11 weeks & 5 days.
  
  Risk for age: 1:37
  Adjusted risk: 1:150
  HCG: 3.39
  PAPP-A: 0.93
  NT: 1.4
  CRL at 11 weeks 4 days: 5.27cm
  
  What is your interpretation of this result as I can't seem to find anything that relates to the higher HCG levels. Could you enlighten me?
  Thank you :)
  Tracy

   

• At Sat Jul 18, 01:35:00 AM 2009,  Tracy said…

  Dear Dr T, I am 42 years old (will be 43 when I give birth).
  
  I have had two pregnancies, first one 20 years ago with nil issues other than a large baby. Second pregnancy 10 years ago and I had pre-eclampsia with massive odema (put on over 88 pounds, which was mainly water retention).
  
  I have mitral valve prolapse and hypermobility syndrome. I also have an irritable bladder.
  
  Details of first trimester screening as follows:
  
  CRL: 52.7mm
  11wks & 6 days
  HCG: 3.39
  PAPP A: 0.93
  NT: 1.4
  Risk for age: 1:36
  Adjusted Risk: 1:150
  
  Could you advise if a) the PAPP A is within the "normal" range (I am unsure what is considered low, normal or high for PAPP A) and is the result due to my age and high HCG levels. At the time of blood testing, I had a UTI. Do you think that the high HCG levels could be due to the fact that I have a possible large placenta?
  
  I usually have between a 25/26 day cycle. The cycle previous to the one where I conceived lasted for 32 days. I am wondering whether this long cycle was in fact a pregnancy and I naturally miscarried, despite having a negative pregnancy test. Also, I have been told that my risk factor for age is based on the age I will be when I give birth and not the age of conception.
  
  Many thanks for your help.
  Tracy

   

• At Sat Jul 18, 09:18:00 PM 2009,  Anonymous said…

  Hi Dr T, first let me say thank you for all the helpful information you have do kindly provided to so many nervous expectant mums out here. Information such as you provide is so hard to come by, but exactly what we need.
  My query is: I am due to have the NT scan on the 23 July (I will be 12 1/2 weeks), and blood test to follow. I had a termination for a DS baby last year(after much deliberation). As I have had 3 miscarraiges in the past (along with three live births - my first dying of SIDS at twelve weeks) my doctor has been injecting me with 5000 units of hCG once a week for the past six weeks and will continue to do so for another 1 - 2 weeks. I am wondering whether this will affect the blood test ( I am assuming it will). I will probabably go ahead with more invasive testing anyway, unless the odds are extremely good, which I'm not expecting to be the case, turning 40 next month. I had a vaginal CVS last time (by a specialist with a reportedly 1:400 rate of micsarraige with this method), and was happy
  with this as it felt better than a needle through the belly, however my doctor is recommending amnio as he says it is safer. I would dearly appreciate your comments on these issues. With thanks, Jennie
  
  PS. All the best for a speedy recovery to you. Sounds like you are doing well. Take care
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  
  says it's saferI would dearly appreciate your thoughts on this

   

• At Thu Jul 23, 08:36:00 PM 2009,  Tracy said…

  Hi Dr T, It's Tracy who posted regarding high HCG Levels. I received the preliminary results from my CVS today and all is normal, they will provide me with the final results in two weeks as per the norm and I'm having a baby boy.
  
  This is such good news as my last baby (10 years ago) died of SIDS at age 7.12 months and I never thought that I would have another baby. I'm so happy today.
  
  Thanks for your wonderful site, it truely is a Godsend.
  
  Take Care
  Tracy

   

• At Sun Jul 26, 07:17:00 AM 2009,  Anonymous said…

  hi Dr T
  Knowing you are overwhelmed with posts from similar situations as myself i hope im not to late for a reply- My husband have been left devestated after learning that our third pregnancy(x2 previous term healthy babies) is at an increased risk of trisomy 21. I have detailed my information below
  
  british/ white/ 67kg/ non smoker/spontaneous pregnancy/aged 30 (31 at birth)
  
  12weeks(altered to 12+3 at scan)
  nt 1.5
  crl 60mm
  normal structure/fhr/nasal bone noted
  papp a 0.68
  bchg 3.6
  combined adjusted risk 1:144
  
  We have opted to wait until 15 weeks to have the amnio which is in a week-also opted for the FISH testing just so we can have some results in 48 hours. What is your opinion on my result the genetic counsellors have seemed rather negative against my original positive attitude-im losing faith that we will be the lucky ones. Im very nauseous at the moment is that because of the bhcg levels ??
  hope you can help
  cheers katie and david xx

   

• At Fri Jul 31, 01:46:00 PM 2009,  prettyinpink said…

  Hello Dr T,im a 26 years old,i have a 4 year old daughter with my husban of 7 years,we have recently tried for child number two,only to have gone on and experienced 3 early miscarriges ...all at 5 weeks,ive lost all three pregnancies in the last eight months! im emotionally drained and very puzzled as to why this has happened?its the same father as my daughter has? ive had all the blood and hormone work done and it was all clear?i had a c section with my daughter as she was a breach presentation at birth,the c section all went well and the pregnancy was straight forward with my daughter i concieved her on my 1st attempt and carried to term! the hospital checked for abnormalities in my womb but all was ok,no excess scar tissue my tubes and ovaries were clear too,so im a little lost why this is happenening?the doctor has put me on low dose of asprin 75mg and folic acid when i get my next posotive result.my cycles are 32 days every month like clock work,but i was wondering if i could have luteral phase defect?all the pregnancies were lost at the time of implantation,also would it be safe to take vitamin b6 and also to use a natural progesterone cream?i just wish i could put it down to more than BAD LUCK?!!! thankyou for your time sir.kind regards.

   

• At Fri Aug 21, 06:42:00 AM 2009,  Anonymous said…

  Hello Dr. T,
  
  Thank you so much for your very informative site. I understand the importance of first trimester screening, but they can also cause a lot of stress once the results are receive. My results are as follows:
  
  Age 41 (42 at delivery)
  HCG1: 1.23
  PAPP-A: .42
  NT: 2.00 mm
  CRL:63.5
  
  The blood work was performed at 11 weeks 4 days and the ultrasound at 12 weeks 6 days.
  
  T21 Risk is 1 in 24
  T18 Risk is 1 in 520
  
  We met with a Genetic Counselor and she explained that with my combined risk that out of 24 pregnancies 1 would have a baby with Down. If that is the case, what would explain the levels for the other 23? Thank you for your time RL

   

• At Wed Sep 16, 02:57:00 PM 2009,  Anonymous said…

  Dr T, I've found your blog very helpful and appreciate your conservative approach. I am 36 and will be 37 at my EDD. I have a history of controlled preterm labor that is probably best described as "irritable uterus." I did the first trimester screen in the hopes that it would negate the need or recommendation for an amnio, as I'm very fearful of the risk. Unfortunately, we left the nuchal scan with a somewhat false sense of security. The doctor assured us that the baby looked great and the measurements were not even boarderline and at that point I really thought of the bloodtest as a formality. However, I was completely caught off-guard when the genetics counselor called and told me that after the blood test, my overall risk of DS was 1/57 and my risk for T18 was 1/73. I'm not sure what the actual values were, but after reading numerous posts of women even older than myself with screen positive results and lower risk values, I'm very confused and concerned. Does the fact that my risk increased so much with a normal US mean that my blood work was really "out of whack" and if so, does that increase the overall risk of problems with the pregnancy even if the amino results come back normal? Also, I'm scheduled for an amnio next week and will be 15 weeks 3 days. My OB reassured me that the risk is the same at 15 weeks as it is at 20 weeks, do you agree? Although I changed OBs and this is the first time seeing a Dr at this practice, I expressed my concerns about my fear that I may be at increased risk of pre-term labor from the amnio due to my "irritable uterus," but she didn't think it that was the case. What is your opinion? Lastly, she indicated that the perinatologist would do a thorough ultrasound before the amnio, could you tell me how likely it will be that markers for DS, T18/13 would be to show up at 15 weeks 3 days? Thank you so much, for your time and advice! Unfortunately, I have nothing but time to worry and speculate on my hands until the actual amnio results come back, but I think the more information I have (both reassuring and not) have helped me get through this horrible limbo. Looking forward to your response, Jenny

   

• At Thu Sep 17, 11:33:00 AM 2009,  Anonymous said…

  Hi Dr. T, I just received the results from my Quad Screen. Although my risk for DS and Trisomy 18 are low (1/10,000) and 1/460 for Spina Bifida they noted that ALL of my serum levels are abnormally high. HCG 5.4 MoM, AFP 1.94 MoM, Inhibin and Estriol were high as well. What should I be concerned about? I've heard that I'm at higher risk for preeclampsia, IUGR and pre-term labor (I've done a lot of research on what each of these complications entail) - but what does high risk mean exactly? That I'm 30% more likely to develop one of these? 70%? I'm just trying to figure out if there's any way that my levels could be so high without there being any consequences and I have a feeling the answer is "no". I am meeting with a Peri in 3 weeks, but my Dr. has no answers for me in the meantime. They seemed to be one of the highest she's ever seen. Any insight on questions I should ask or any info about what I could be in for the remainder of this pregnancy would be great.
  
  Thanks!
  Sara

   

• At Sun Sep 20, 11:30:00 PM 2009,  Ashleigh said…

  Hi Dr. T, I am 19years old and had a nuchal ultrasound at 12 weeks and the fluid behind my babys neck measured 2.3mm and chance of 1 in 239 of having down syndrome and midwife told me I had a risk of the baby having down syndrome therefore to see a specialist for further tests. could you help me to define weather my risk is a great risk?
  Regards,
  Ashleigh

   

• At Tue Sep 29, 10:01:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jenny Sep 16: Just now catching your questions. You might even have the results of the amniocentesis back by now. If the first trimester ultrasound was reassuring, then probably both the hCG and the PAPP-A were low and the PAPP-A was probably much lower than the hCG (just a guess on my part). Under those circumstances, even if the baby is chromosomally normal (which we are hoping it is), you may be at risk for complications related to a small and/or poorly implanted placenta. Under these circumstances, that can result in a growth-restricted baby and increases your odds for preeclampsia and and/or early delivery. BUT, hear me loud and clear, NONE of those things might happen either! Even with the history of an irritable uterus, I would still recommend the genetic amnio. Hopefully, you had that done and all turned out fine. Please let us know and best wishes!
  Dr T

   

• At Tue Sep 29, 10:06:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To sara sep 17: First thing to do is to check the accuracy of the pregnancy dates the laboratory was given to interpret your test results. All of the serum analytes vary by gestational age. If the values are still on the high side, probably the thing you are at greatest 'risk' for is a large placenta and a larger than average size baby. There are some bad things like partial molar pregnancies that are associated with high hCG levels, but that is less likely to be the cause. Your doctors might also want to screen you early for gestational diabetes. Best wishes and let us know how things turn out.
  Dr T

   

• At Tue Sep 29, 10:10:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ashleigh Sep 20: At your age, your risk for delivering a baby with Down syndrome (based on age alone) is about 1 in 1250 and the chance of having a baby with ANY chromosomal abnormality is about 1 in 500. The risks are 20-30% higher in early pregnancy when your testing was done. So, yes, you are at increased risk for having a baby with Down syndrome than another woman your age, but that risk is still only 1 in 239 (ie., 238 out of 239 babies would be normal with those same results). My usual recommendation under these circumstance is simply to have a high quality ultrasound done at 18-20 weeks. If there is no evidence of Down syndrome at that point, your risk is more in the range of 1 in 500. Best wishes and please let us know how things turn out.
  Dr T

   

• At Tue Sep 29, 11:08:00 AM 2009,  Anonymous said…

  Hi Dr. T, this is Jenny again. I wanted to thank you for your reassuring comments and provide an update. We did the amnio and found out (based on the FISH) that we have a healthy baby boy. The perinatologist that performed the amnio was great and has recommended that they monitor the baby's growth via ultrasound every 3-4 weeks. This is very reassuring and I am hopeful that my low PAPP-A levels don't mean anything.
  
  This is my fourth pregnancy and we didn't do any blood testing with my prior pregnancies, but I did have pre-eclampsia with my first pregnancy and a very small (5lbs 9 oz) baby at 38 weeks with my second, so I'm glad that they are keeping an eye on this pregnancy and so appreciate the time and energy you put into providing such great information for all of us worried, hormonal mom's!

   

• At Wed Sep 30, 10:11:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Jenny: Congratulations and thanks for letting us know. Best wishes for the rest of the pregnancy!
  Dr T

   

• At Fri Oct 02, 05:00:00 AM 2009,  Anonymous said…

  hi dr T..i just wanted your oppinion on recent tri screening
  am 12 +5, non smoker
  pappa 2.404iu/l
  hcg 146.500iu/l
  age 34
  backgroung risk 1; 278
  u/sound risk 1;152 n fold 2.7
  bio chem 1;191
  adjuste risk 1;105
  my quetiojn is what are the normal blood results [taken at 11 weeks]...tx .apreciate any insight .k

   

• At Wed Oct 07, 12:49:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 2: Results that are used to integrate into the risk assessment are expressed as Multiples of the Median (MOM) because the actual assay results vary by gestational age. We rely on the laboratory computers that have access to the databank for results to give us the MoMs and the final risk assessment calculation. So I cannot tell you what the "normal levels" are for those analytes at 11 weeks. Do you have the MoM results?
  Dr T

   

• At Fri Oct 30, 06:08:00 AM 2009,  Anonymous said…

  Hello Doctor T. I am new to pregnancy. This is my first.
  
  I am 39 and had the Early Risk Assessment at 12.2 weeks / 11.4 days LMP and the results were:
  -Nasal bone present
  -CRL 57mm
  -NT 1.3 mm
  -PAPP-A .93 MoM
  -Free Beta HCG 3.09 MoM (167.34)
  
  My results for Down syndrom screening were 1:86 as compared to 1:92 for my age.
  
  What casues high Free b-HCG?
  
  Why would my doctors office not want to repeat the test when I asked?
  
  My regular HCG was 1200 at 5 weeks
  
  Other facts:
  
  -LEEP procedure March 09 for pre-cancer cells originating from HPV and A-typical Glandular Cells.
  
  -High pulse since pregnancy >100 at rest >140 when walking
  
  -13.6 weeks today
  -Placenta is Anterior
  -amnio scheduled at 16 weeks
  -39 years old
  Risk for Pre-Term Labor?
  Is Anterior placenta a risk for Amnio?
  Should I change doctors to see a High Risk OB?
  -Is the high b-HCG a big risk, and how do my other # look?
  
  
  Thank you for your response!!! I have never posted to any sites before and am extremely concerned.

   

• At Fri Oct 30, 06:25:00 AM 2009,  Anonymous said…

  Hi Doctor T- Just wrote in a few minutes ago...and think I forgot to tell you that the PAPP-A was
  .93 MoM.
  
  Also how I find out about who in the Boston, MA area does FISH for AMNIO?
  
  Thanks!

   

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