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Kenneth F. Trofatter, Jr., MD, PhDPregnancy and Childbirth
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Return of Dr. T

Kenneth F. Trofatter, Jr., MD, PhD
It has been several months since I have written and I have missed all of you. I was a little burned out by trying to keep up with my interim Chair and clinical responsibilities as well as the blog, but the greatest reason was that ‘Blogger’ was misbehaving and had been for many months – you couldn’t leave your comments and I couldn’t respond. I felt like I was talking to the wall and it was the need for and the feedback I got from the interactions with all of you that had given me the energy and inspiration to keep going up to that point.

Well, we finally have a new Chair and last week, ‘Blogger’ must have gotten a fix because more than 900 comments showed up in my mailbox in two days! So, now I have another dilemma…there is NO WAY I can answer all of you. However, in one of the batches of mail was the note below from Danita. I want to share it with you because it reminded me what I envisioned and have attempted to provide as my role on this site and it has been a strong incentive to return to the keyboard today…..

Hello Dr. T--it's Danita.
I originally posted a comment on your blog on August 14, 2008. I just wanted to give you a quick update. My son who was born at 26 weeks 6 days, and weighed 2 lbs. 9 oz. is now a healthy 9 month old. I was told like many of the other women that my baby probably wouldn’t make it. I was admitted to the hospital at 23 weeks after my water broke, and I was immediately placed on bed rest. I continued to leak fluid, and eventually after a week I did not have any fluid surrounding my baby. I was nervous, scared, and honestly confused by all of the facts that were being presented to me. I just wanted to let you know that I truly appreciate the encouragement that you provided to me as well as the other women that have, or are experiencing these difficult times during what is supposed to be the happiest time of our lives. You were honest, and gave me a sense of hope. After spending 4 long months in the NICU we finally got to bring him home in December of 2008. My son left the hospital a healthy baby with no medication, no oxygen--nothing. This is the same baby that I was told probably would not make it…I just had to share my journey, and my experience. I would like to send my condolences to the women on this blog who have experienced a loss. I have experienced that pain, and I know it is a very emotional time. I want to tell those same women along with all the other women on the blog to keep their faith strong. I know it is hard--- I’ve been there…but I wanted to share my story with all of you. I am not here to give you false hope, but maybe I can give you hope period. Dr. T— keep doing your thing!
Thank you again,
Danita


So, I am going to renew my pledge to push on with Fruit of the Womb. Although I will not be able to respond to all of the comments that have been left, I will try to catch up with the more recent ones and will certainly go back through ALL of the others to find common themes and situations that might be of general interest or are uniquely intriguing and thought-provoking. Much has gone on in Maternal-Fetal Medicine since we have talked last and I will try to catch everyone up on some of the more exciting advances as well.

It’s gonna be GREAT to be back!
Dr T

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46 Comments:

  • At Mon Jun 08, 06:53:00 PM 2009, Blogger bearbait said…

    Hello, I'm not sure if this is where to post this, I'm new to blogging. I am 8 months pregnant, have antibodies for both Hashi's and Grave's. My TSH is 0.01, T3 & T4 are ok, have Grave's symptoms. My endo gave me a scrip for 50mg PTU. I'm currently taking 81mg aspirin to protect against the antibodies; is it ok to take both at the same time? I know that you aren't supposed to take anti-coagulants with PTU, but was wondering if it's ok since they are both low doses.
    Thanks so much
    ~Rachel

     
  • At Tue Jun 09, 02:39:00 AM 2009, Anonymous Anonymous said…

    I have found it very useful reading the replies to posted comment.
    I would appreciate if you can advise on what needs to be done for a case persitently high FSH.

    KIndly assist

    Thank you

    EJ

     
  • At Tue Jun 09, 06:42:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    Rachel: That combination of medications at those doses should not be particularly risky.
    Dr T

     
  • At Tue Jun 09, 06:43:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To EJ: There are several possible causes for an elevated FSH. What sort of evaluation have you had to date?
    Dr T

     
  • At Wed Jun 10, 07:17:00 AM 2009, Anonymous Anonymous said…

    I have read one of your previous article regarding cervical cerclage. i was diagnosed with endometriosis, treated with laproscopy and subsequently underwent many IUIs and one cycle of IVF without success. My second IVF cycle was successful, but due to Preterm premature rupture of membranes (PPROM) at 21 weeks, lost healthy twins. No history of diabetes or hypertension. Doctors could not diagnose the reason for PPROM, may be due to cervical incompetence. I was on total bed rest, but had some vaginal bleeding at 11 weeks. I just wanted to know if cervical incompetence could have been diagnosed before and cervical cerclage would have been useful. What are my chances of undergoing normal conception?

     
  • At Fri Jun 12, 06:52:00 PM 2009, Anonymous Jennifer said…

    Hello, I also can not figure out where to make a new post.

    I am 37 have mthfr homozygote mutation and am pregant again -- the kicker is that I already have two children with Down syndrome. They both have trisomy 21. They are the only two pregancies that I have had. My daughter is 12 and my son is 8. Do you know of anyone else who has had two children with down syndrome, let alone 3? This was an unexpected pregnancy and I wasn't taking any additional folic acid or anything before i became pregnant.

    Thanks for any input you could give.

    Jennifer, mother of two precious gifts -- i love them so

     
  • At Sat Jun 13, 11:51:00 AM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To anonymous June 10: Conception and successful carriage of a pregnancy are separate issues. It sounds like you had (have) cervical insufficiency with the twin pregnancy. I firmly believe that all multiple gestations, particularly those resulting in infertility patients, should be carefully evaluated for premature cervical changes by transvaginal ultrasound beginning as early as 16 weeks. If cervical changes were picked up early enough, a cerclage may well have been successful in preventing your pregnancy loss. Twenty-five years ago, detecting and treating cervical incompetence in a 'first pregnancy' was rarely successful and because of the increased surveillance by ultrasound, it is almost a weekly event on our service. With a subsequent pregnancy, I would recommend serial cervical evaluation by ultrasound even if you have a single baby. You might also be a candidate for an elective/prophylactic cerclage at 13-14 weeks if you have any other risk factors such as a congenital uterine abnormality or previous cervical surgery (e.g., LEEP or conization). In addition, even if you and your providers decide only upon serial ultrasound evaluation, you might consider wekly injections with 17-OH-progesterone caproate beginning at 16-18 weeks as well. I am sorry for your loss, but with careful follow-up and pregnancy management, you should be successful in the future.
    Kind regards,
    Dr T

     
  • At Mon Jun 15, 08:07:00 AM 2009, Anonymous TXan said…

    Glad to see you back posting! I missed your insightful postings!

     
  • At Mon Jun 15, 09:43:00 AM 2009, Blogger sini_star_ck said…

    Hello Dr. T.

    I've found your articles very knowledgeable and was wondering if you could shed some light on the issue my wife has recently developed.

    A little past: She always had her periods on time, got pregnant from a single broken condom 4 years ago at 16 and had an abortion, and had regular periods after that.

    She had taken three depo shots in the middle/end of '07 with no further use of birth control and 5 months ago she had two periods that came on time for those two months, and then disappeared for no obvious reason. She went to planned parenthood which tested for STD's, cervical cysts, hormonal imbalances, and everything came back as normal and clean. They gave her a pill for 5 days forcing her to ovulate and have a period. She has currently missed her second period by a week presently. She has had enlarged and tender breasts and nipples, nausea, weight gain after nausea cut food intake in about half (though still normal eating habits) and some typical pregnancy symptoms but two pregnancy tests taken a week after this missed cycle have come back negative. I suppose as you've said previously, patience is a virtue, and we're (she is) just over thinking this though i've put some thought into low hCG levels and would like your opinion. (No meds, liquor, etc for her)

    Thank you.
    DM.

     
  • At Tue Jun 16, 04:49:00 PM 2009, Anonymous Anonymous said…

    Hello Dr.
    I would like to ask you one more time ( i am the same with the name Greece 1969) what is your opinion of my wife's high level β-HCG at her 1st trimester test ? She had a 4.482 MoM which is maybe the biggest number of all i read here...Is there something we need to look after?
    I remind you our test results :

    NT: 1.6
    β-hcg :4.482 MoM
    papp a :0.994 MoM

    Chances for Trisomy 21 : 1/213 .

    Thank you!

     
  • At Tue Jun 16, 05:46:00 PM 2009, Anonymous Anonymous said…

    Dear Dr T.
    I'm so glad you are back! I missed reading your articles.
    welcome back!
    Mamma-to-be

     
  • At Thu Jun 18, 04:53:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To anonymous June 16: Your wife's high hCG is the result of increased production by the placenta or decreased clearance. The most likely cause is the former. This can simply be the result of a big placenta but also can accompany Down syndrome (for reasons that are not well-understood), partial molar or molar pregnancies, choriocarcinoma (cancers of the placental trophoblasts), and certain genetic predispositions to over-produce hCG in response to either normal stimuli or as the result of excessive stimuli to its production. Most likely the latter genetic abnormalities are the result of receptor polymorphisms and again are poorly understood. Please let us know the outcome of the pregnancy! I hope things go well.
    Regards,
    Dr T

     
  • At Thu Jun 18, 05:06:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    Thank you Mamma-to-be!!!!!

     
  • At Fri Jun 19, 02:02:00 AM 2009, Blogger alex 09 said…

    Greetings, I have just registered and need a little advice. I have trawled your site for an example the same as mine to which you have responded, but no joy.
    I am concerned over screening blood results. HCG 1.9 Papp-A 0.6
    NT 1.8 overall risk given 1:250 I am 40 yrs old. I know that it is the overall risk factor that is the important one and the blood results on there own are meaningless. However, I have scared myself silly reading sites on the internet. Can you give me some feedback as to whether the blood results are 'bad'! Many thanks for being a lifeline to all us expectant mothers who can't find any answers.

     
  • At Fri Jun 19, 12:53:00 PM 2009, Anonymous Anonymous said…

    Dr T!!!!
    I was SO happy to see you are back!! I have been checking back for months waiting to see if you would come back! I have learned so much from your blog!
    I asked you a question back in Oct/Nov 07 about my daughter who had had a m/c at 6w5d and was pregnant with her 2nd. It thankfully resulted in a normal pregnancy and delivery of a full term beautiful baby boy in 5/08! Since then she has had problems again with early m/c. She lost #3 at 5w2d (in March) and it is apparent that she is just losing #4 now at 7w3d. She had some spotting last night and stat HCG came back at 3500, when it was 2400 10 days ago. Her HCG rose slowly in her viable pregnancy but not that slow. We figure that a m/c is imminent. We are all devastated again!
    What would you suggest as far as getting help from an RE for future preg? The OB said that they wait for 3 consecutive m/c before working someone up. Maybe just some bloodwork before another pregnancy. I don't think my daughter could bear another loss without having looked into the possible problems. What tests would you suggest she have done? She has no trouble getting pregnant, but then very early m/c.
    I wish we lived close to Greenville REI! We live in E. WA state.
    Thank you so very much for your generous help and support to all of us out there wanting help and answers!
    LB

     
  • At Fri Jun 19, 03:08:00 PM 2009, Anonymous Anonymous said…

    Thank you very much Dr T. for your answer! We had our amnio today and we are expecting the first results on Monday. In this point i want to inform you about the results of our 2nd trimester examines (15 weeks+4 days) that were more encouraging for us :

    AFP 0.950 MoM
    free-βhCG 1.691 MoM
    uE3 1.432 MoM

    Chances for trisomy 21 1/451 MoM

    My wife's age is 34, non smoker ,white Caucasian,first pregnasy,no former pregnasys or miscarriages. 56kgr weight and 1.55m Height.

    Thank you very much and i will reply when we''ll have the final results.

     
  • At Fri Jun 19, 06:52:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Jennifer June 12: Sometimes that happens by chance alone and sometimes it happens because one of the parents has a balanced chromosome 21:21 translocation (both of the #21 chromosomes are stuck together). Such folks are themselves chromosomally normal because they have the correct total amount of genetic material but ALL of their children will be chromosomally ABNORMAL - either trisomy 21 (Down syndrome) or monosomy 21 (generally lethal). Best of luck with the currrent pregnancy. You are a dear person and thank you for writing.
    Dr T

     
  • At Sat Jun 20, 12:26:00 PM 2009, Blogger Jennifer B said…

    I have had three losses the first was an ectopic over a year ago the second a blighted ovum diagnosed at 8 weeks and the third a miscarriage at 5 weeks. My Dr had done testing for me in January (While I was not pregnant) to rule out clotting factors - everything came back normal except a heterozygous MTHFR mutation and an eleveate Protein C.

    This most recent miscarriage the DR did bloodwork while I was still pregnant (HCG was dropping but had not reached 0) and everything again normal same MTHFR mutation but this time elevated Homocysteine levels. Top range for the lab was 13 and mine was 14.7. During this pregnancy I was on a baby aspirin a day as well as progesterone supplementation and taking a prenatal with 800mcg folic acid. Not sure what this means since Dr said treatment for this is folic acid and b vitamin supplementation but I was already doing that. I want to try again but I just don't know how much more of this I can go through. Not sure if this means anything but when I told my Mother - she said that all of my maternal grandparents and great grandparents passed away from strokes. Is this a genetic factor - all of those women had children although at a much earlier age than myself. I started with the first pregnany at age 38 and am now 39. Is this all age related or does the above indicate a deeper problem?

     
  • At Sun Jun 21, 04:48:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To sini_star_ck: Tell me what "hormonal tests" were actually performed at Planned Parenthood. Your wife is not ovulating for some reason and this is most likely "hormonal" in origin.
    Dr T

     
  • At Mon Jun 22, 01:29:00 AM 2009, Blogger Greecemom said…

    Dear Dr Trofatter,
    This is an invaluable resource for us women who are "clueless". I live overseas and cannot get concrete answers to my questions. My first trimester screening test came back positive for Down being 1/22
    age 41
    NT 3.3
    CRL 61.9
    free Bhcg 1,743 mom
    PAPP-A 1,092
    NB present
    I did go forward with an amniocentesis and it was positive for trisomy 21. The lab that it was sent to was a joke though. That is a whole other issue and I lost total confidence with these people they lied to me 3 times.....
    ANYWAY, I'm just confused as to how my PAPP-A can be at a good level, and my beta hcg not be too elevated but still be positive???? Incidently, the lab that did my first trimester screen is not the same one that did my amnio. Sorry to run on and on, but I just now figured out how to blog. Thank you so much!!!!!

     
  • At Mon Jun 22, 07:19:00 AM 2009, Blogger Greecemom said…

    Dr. Trofatter,
    I forgot to add that our baby also has a severe heart anomaly that the pediatric cardiologist I saw said was unrelated to the Down Syndrome???????????
    Thank you again.
    Greecemom

     
  • At Tue Jun 23, 12:07:00 PM 2009, Anonymous Anonymous said…

    Hello Dr.
    I'm the anonymous June 16 with the high HCG and the 1/213 chances for trisomy21 . My wife had her amnio at Friday and today we took the first results . Thanks god our baby girl is normal and just fine.Thank you for your advices and your time.
    Good luck to everyone!

     
  • At Thu Jun 25, 04:00:00 PM 2009, Anonymous Katelyn said…

    Hi Dr T,

    I'm new to all this, blogging, pregnancy, the lot!!

    I had my 12 week scan on 16/06/09 but was avdised on the day I was actually 13wks 4 days. My results have me so puzzled and worried and your site seems the most informative by far and I hope very much that you can help make sense of them.

    Here goes:

    Age: 26
    Fetal Heart Rate: 167bpm
    CRL: 77.4mm
    BPD: 25.1mm
    NT: 1.6mm
    Nasal bone: Present (0.4mm)
    Free beta hCG: equivalent to 6.3700MoM
    PAPP-A: equivalent to 1.3600 MoM

    Ultrasound risk for Trisomy 21: 1:3824
    Biochemistry: 1:83
    Age related: 1:922
    Adjusted risk: 1:342

    I am so confused by all of this. Waht worries me the most is the hCG levels and nasal bone length. Am I right to be freaking out??? On all the internet sites I've visited I have not come across hCG levels as high as this.

    I'm sorry if I've posted in the worng spot.

    Thanks and I very much look forward to your feedback Dr T.

    Thanks,

    Katelyn

     
  • At Thu Jun 25, 04:20:00 PM 2009, Anonymous Anonymous said…

    Hi Dr T,

    In case I'm doing this in the wrong spot, I apologise in advance. I'm new to blogging, pregnancy, the lot!!! To date I have found this site the most informative and helpful re screening tests and I hope very much to have some light shed on all of this.

    I had my 12 wk scan on 16/06/09 but found out on the day that I was actually 13wks 4 days. My results have me so confused and worried, it realy doesn't help when things are not explained either. Ok here goes with the results.

    Age: 26.5
    Fetal heart rate: 167bpm
    CRL: 77.4mm
    BPD: 25.1mm
    NT: 1.6mm
    Nasal bone: Present (0.4mm)
    Free beta hCG: equivalent to 6.3700MoM
    PAPP-A: equivalent to 1.3600 MoM

    Age related risk: 1:922
    U/Sound risk: 1:3824
    Biochemistry risk: 1:83
    Adjusted risk: 1:342

    To me they seem so varied and cannot make sense of it at all. The hCG levels and nasal bone lenght seem so worrying. Am I right to be absolutely freaking out about this?? I have not found any information about hCG levels that are so high elsewhere.

    Any insight you could provide would be wonderful.

    Thanks so much,

    Katelyn

     
  • At Fri Jun 26, 06:33:00 PM 2009, Anonymous Jennifer said…

    Dr.T - Thank you for resopnding to my original post. I appreciate your input. The father of this child, the one that I am carrying, is not the same as my first two. I had my chromosomes mapped -- i guess thats the correct term -- and nothing abnormal was found. Could that mean that i don't have a 'balanced 21:21 translocation'? Wouldn't that have been found? If there is another place to post please let me know. I still have been unable to find where I do an original post.

    Thanks again - Jennifer

     
  • At Mon Jun 29, 11:47:00 AM 2009, Anonymous Anonymous said…

    Dear Dr. T
    I am so glad to have found your site. I would like to ask you about our situation. We have been through 5 years of infertility treatments including several IUIs, three fresh IVF cycles and two frozen IVF cycles. We got pregnant first on our own, but lost it at 8 weeks – the ultrasound showing ‘no fetal pole’. With the IVF, we had 2 early (chemical?) pregnancies that went to 4 weeks. Also we had one IVF that went to 5 weeks which seemed to miscarry naturally, but my HCG kept increasing – facilitating the need for 2 D&Cs to clear the uterus.

    I am will be 38 in November. My husband is 38. During our IVF tx we each had a genetic blood test to rule out genetic abnormalities. I am 12 weeks 6 days pregnant today. We had a screening ultrasound last Thursday which showed a 9mm cystic hygroma. We had a CVS and the results today confirmed trisomy 21.

    We have found much data to support the lack of viability at such a large nuchal translucency – meaning it would be exceedingly rare to actually reach birth. Given our poor history, the thought of having a stillborn birth or a late miscarriage is so heart wrenching, we are really having a difficult time.

    What are your thoughts of the possibility that we could give birth to a healthy child with Down syndrome? The literature seems to say at our range the chances are next to none. If such is the case, then the decision for our next step might be easier to go through.

    Thank you so much!

    -A couple in waiting

     
  • At Tue Jun 30, 12:45:00 PM 2009, Blogger Greecemom said…

    Dear Dr. Trofatter,
    Thank you so much for your return!! I've been following your blog since March (the back issues). I have been dying to ask you a question. I am limited in my information as I live on a Greek Island.
    When I was 12 weeks I had a screening test. My beta HCG was 1,74mom and my PAPP-A was 1,09. I am 41 years old and the NT was 3,3. I was put at a 1/22 risk of Down syndrome, and indeed at 16 I had an amnio and it was positive for Trisomy 21. I am currently 7 months with the same baby...(I did not want to terminate). My question is how can my PAPP-A be at such a good level, and my beta hcg not too elevated and still have a Down's baby??? I guess I am an exception? Also let me tell you the lab that did the Karyotype lied to me 3 times, so I am doubting their credibility. But is there any mistaking Trisomy 21 no matter what? There are either 3 21 chromosomes or there are not....there just can't be amy mistakeing no matter how incompetent the lab is???? Thank you for taking your time to read this....again, I have been wanting to ask that question for 3 months now!!! So glad to see you back, and hope your health is well.
    Greecemom

     
  • At Thu Jul 02, 07:18:00 AM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Greecemom: Your age and the widened NT, as well as the difference in MoMs between the hCG and the PAPP-A led to the increased risk that appears to have been confirmed by the chromosomal studies. I think it is very unlikely the fetal chromosomal studies are incorrect under these circumstances. Best of wishes from me to you, I know this is hard and it does not help if you did not have confidence in the laboratory.
    Dr T

     
  • At Thu Jul 02, 07:19:00 AM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To anonymous June 23: Well, congratulations! The odds were certainly in your favor. Best wishes for the rest of the pregnancy and thanks for letting us know.
    Dr T

     
  • At Thu Jul 02, 07:23:00 AM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Katelyn: You will go crazy trying to dissect and interpret the individual test results. The important number is the composite risk of 1 in 342 and the question for you is simply, how comfortable are you with that risk? If you are NOT comfortable, then you should consider having an amniocentesis done to find out your baby's karyotype (chromosomes). Let us know what you do and how things turn out.
    Dr T

     
  • At Thu Jul 02, 07:24:00 AM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Jennifer June 26: That does mean you do NOT have a 21:21 translocation
    Dr T

     
  • At Thu Jul 02, 07:28:00 AM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To anonymous June 29: The larger the cystic hygroma, the greater the likelihood that the baby has either a major cardiac malformation or a metabolic disturbance secondary to the Down syndrome that will substantially reduce the risk of surviving the pregnancy. From my experience, more than 90% of babies with a documented chromosomal abnormality will succumb during the pregnancy with this combination of circumstances. I know the decisions are hard, so my heart goes out to you. Best wishes.
    Dr T

     
  • At Sat Jul 04, 08:30:00 AM 2009, Blogger Julia said…

    Doctor,
    I have been reading your posts and you are clearly very knowledgeable about this. I wanted to ask you about my situation. I just turned 34 this June and am pregnant for the first time. We are in the 13th week of our pregnancy and had a screening done last week. My HCG was 1.7; my papp-a was .28; and my NT was 1.9. They gave me a 1/8 chances of Down's. I am going back this Tuesday for a CVS, but I wanted to ask you a few things. First, how large or small of a role does the NT and the fact that it is in normal range play? When I had the ultrasound, the doctor told me that this significantly decreases the chances of any abnormalities, and yet I was given this 1/8. Second, how much of a role does age play in the 1/8? Third, does the CVS test for any other abnormalities besides Down's? Finally, do you think that there is any hope of a healthy pregnancy and baby given the blood test?
    Thank you so much for your help!
    -Julia

     
  • At Sat Jul 04, 09:35:00 AM 2009, Anonymous leilani said…

    Hello Dr. T I am also new to the whole blogging thing. I am currently 13weeks 3days, and was told at my last prenatal appointment that based on my first trimester screening, I have a 1 in 235 chance of having a baby with downs syndrome. I am only 23 years old, and I wasn't sure if this is horrible. I thought most people had a 1 in 275 chance, but looked it up online and came to find out that its more like 1 in 1200, so naturally was very concerned. I was wondering if you could shed some light on this whole odds thing, because I'm sort of freaking out. I do have kidney disease MPGN type 1 and graves disease, not sure if that makes a difference. I have one other child he's 4 and very healthy, with no disabilities whatsoever. Hope you can help me understand this a bit more. thanks.

     
  • At Tue Jul 07, 04:23:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Julia: To answer your questions:

    1) The NT measurement by itself will lead to the diagnosis of Down syndrome in only about 50% of cases - in other words, half of babies with Down syndrome will have "normal" NT measurements.

    2) Your risk is only being partially driven by your age. The greater factors are the high hCG, the low PAPP-A and the disparity in the MoMs for those analytes

    3) The CVS test should be able to pick up any chromosomal abnormalities but there can be both false-positives (rarely) and false-negatives if there is a degree of 'placental mosaicism' - two different populations of fetal cells that developed after the embryo began to divide.

    There is ALWAYS hope because there are conditions other than chromosomal abnormalities that can lead to the disparities in the blood tests and we certainly wish that for you. Let us know how things turn out. Kind regards,
    Dr T

     
  • At Tue Jul 07, 04:32:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To leilani: At your age your chance of delivereing a baby with Down syndrome is only about 1 in 1250 and the chance of having a baby with any chromosomal abnormality only about 1 in 500. The first trimester chances that the baby could have a chromosomal abnormality are 20-30% gretaer than these because such babies have a higher chance of getting lost along the way.

    You did not tell me the actual results of your tests, but it is possibility that your kidney disease skewed the risk assessment if you are not clearing the serum analytes normally, particularly the hCG. If this led to a higher circulating hCG level, that would increase your 'risk' for Down syndrome but not the chance the baby actually has it. It is true that young women can have a baby with Down syndrome and indeed, about two-thirds of babies with chromosomal abnormalities are actually born to women at low risk based on age alone. However, in your case, I am betting on your risk being elevated because of your kidney disease. My suggestion would be to 'lay low' for a bit and simply have a good genetic sonogram done at about 18 weeks. If that is normal, it will reduce your risk by at least 50%. Of course, you always have the option to have an amniocentesis done at 15-16 weeks if you just have to know for sure as soon as possible. Best wishes and let us know how things turn out.
    Dr T

     
  • At Wed Jul 08, 07:20:00 AM 2009, Anonymous M said…

    Hello Dr.

    I went for a combined NT test yesterday. This is my second pregnancy(had first child when I was 30 and it was a healthy one for me and baby). No m/c other gyn complications.

    I am 37 at time of birth, I weigh 96kgs and have been given the following risk factors. I am at the same risk level as a 43 year old. These are my adjusted risk figures:

    1: 45 for Tri 21
    1: 291 for Tri 18
    1: 3908 for Tri 13

    My scan/blood results were:
    CRL: 53.0mm
    NT: 1.5mm
    Nasal bone: normal
    hCG: 0.604 MoM
    PAPP-A 0.168 MoM

    The scan was conducted at 12 +3.
    The bloods were taken and analysed at 11 + 2.

    The PAPP-A result seems extremely low compared to anything I have read on this site and I wondered if I should have the blood test repeated - as it is such an anomoly?

    I will be going for a CVS to check for chromosomes abnormality. Should that come back negative, then I really feel that I have a dilemma. With a PAPP-A so low what chance do I have of a successful outcome with this pregnancy? I'm considering a termination as the complication/risks I've read seem so high with low PAPP-A levels and mine are extremely low levels - but don't want to if there is some chance of success.

    With my first I didn't have this test - just the triple - which came back with an elevated(doubled)risk compared to my age group 1: 500 (adjusted) instead of 1: 1000. So I wonder if there is something about the way my body creates the placenta /generates the hormones/proteins that can put me statistically at a high risk but not necessarily put me in high risk of pregnancy complications/poor outcome ( I'm guess I'm hoping).

    I see the Obs tomorrow (UK) and would value your thoughts on this along with any specific questions around monitoring/additional tests that I should ask for when we meet.

    Yours faithfully
    M

     
  • At Thu Jul 09, 09:35:00 AM 2009, Blogger Heather said…

    Hi Dr. T,
    I have a question about my first screen results, particularly the accuracy of the NT measurement. My results are as follows:
    NT 1.41 MoM (2.4 mm)
    PAPP-A 0.75 MoM
    HCG 0.9 MoM
    GA was estimated 12.9 wks, CRL 67mm, I will be age 40 at term and weigh 141 lbs. I was given a risk for DS of 1:160. I was told by the genetics counselor that the problem was the NT and PAPP-A in addition to my age.

    My question is about my NT measurement. The baby was not in a good position for the ultrasound. The tech said the baby was "doing a head stand" and despite several repositions they couldn't get the baby to move. She got two readings but said she wasn't sure if they would be acceptable. The doctor did allow them after review though. What are your thoughts about this?

    Also, how bad is my PAPP-A at 0.75?

    Thank you so much for providing your help to all of us worrying here!

    Heather

     
  • At Thu Jul 09, 06:03:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To M: I am not sure what to say. Both the hCG and the PAPP-A are on the low side, BUT the CRL (crown rump length) of the baby, I am presuming done at the time of the NT measurement, is also LOW for 12 3/7 weeks. Are you sure you weren't a week behind your expected dates and the initial blood tests were misinterpreted because of that as well? Why don't you ask your doctors if that is a possibility and let me know what they (and the lab) think about this situation. Best of luck.
    Dr T

     
  • At Mon Jul 13, 01:21:00 PM 2009, Blogger Heather said…

    Dr. T,
    Sorry if this is a duplicate post. My question is about our first screen results. They were reported as follows:
    NT 1.41 MoM (2.4mm)
    PAPP-A 0.75 MoM
    HCG 0.9 MoM
    CRL 67mm
    These were all taken the same day at 12 wks. EGA was 12.9 wks. I will be 40 at term and weigh 140 lbs. I was given a risk for DS at 1:160. The genetic counselor said that it was the NT and PAPP-A that increased my risk in addition to my age.

    My first question is how much does the fetal position affect the NT measurement? They had trouble getting the measurement b/c the baby was "doing a headstand". They tried to reposition me but the baby wouldn't move. She was able to get two measurments but said she wasn't sure if they would be acceptable. The doctor did allow them after review though. What are your thougts about this?

    How bad is the PAPP-A?

    And finally, does a history of preterm labor make amniocentesis more risky?

    Thanks,

    Heather

     
  • At Tue Jul 14, 06:11:00 PM 2009, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Heather July 13: Your risk is being driven by your age and the "NT measurement." I put that in quotes because if it did not truly represent an accurate measurement, meeting the strict criteria for the same, it should NOT have ever been sent in. The PAPP-A and hCG results are actually VERY reassuring! Best of luck. I hope everything is fine. Dr T

     
  • At Wed Jul 15, 12:02:00 PM 2009, Anonymous Anonymous said…

    Hi, I had the methotrexate shot almost 4 weeks ago to terminate my ectopic pregnancy, i was bleeding for over a month and then my bleeding stopped around July 3rd. The last time I went for a blood test to check my HCG levels, it went down to 10 which was last week. But I just started bleeding again, it's a dark color. Is this normal to start bleeding again when the pregnancy hormone level is almost negative? does it mean that the level is increasing again? Should I worry about having another methotrexate shot? I go in for another blood test tomorrow but should I be worried? Can the hormone level begin to increase again after being at 10? Im worried because I had taken some Diet pills that contains folic acid but stopped as soon as I discovered that it contained it. I've been taking it for about 4 days and then stopped. Could that have anything to do with why im bleeding again? There's no pain or anything.

     
  • At Thu Jul 16, 05:22:00 AM 2009, Anonymous nicky said…

    hi posted a note here but i cant find it and i cant find a reply to it either Dr T ,please take a look at my results and tell me what your opinion is
    free beta hcg 1.4800 mom
    pappa-a 0.4500 mom
    combined test 1:130
    CRL 73.33 mm
    BPD 23.9 mm
    The above are from when i was 11 weeks 2 days
    nasal bone present and nuchal trans i think was at 1.30 mm at 12 weeks + 2days
    i am very scared i just gave birth 9 months ago to a healthy baby boy and this is my 6th pregnancy .I am 36 years old,im from london please tell me what you think about my bloods are they really really bad??i have refused the cvs im not happy putting baby at risk of miscarriage,but the not knowing is soooo stressful and depressing i cant relax and enjoy this pregnancy thank you
    nicky from london

     
  • At Mon Jul 27, 07:21:00 AM 2009, Anonymous Anonymous said…

    Hello Dr T. I came across your original blog shortly before your return. My husband and I are facing a difficult decision and have had difficulty getting answers from our doctors at a MFM clinic. We received the news at my 20 wk ultrasound (now over 2 weeks ago) that our baby has cystic hygroma and hydrops. Keryotype revealed that she has Turner's Syndrome (monosomy X). The CH extends for about 14.5cm from her head all the way down her spine. The hydrops were "not mild" in the words of the doctor. They suspect that a heart condition is the cause of the CH and hydrops.

    My husband and I are trying to decide what to do about the pregnancy. We do not want the baby to suffer, and feel that we would like to just let her go naturally while in the comfort of the womb. However, we are frightened of the possibility of her living to viability or to term and having a very short and tortured life in a hospital. My question is - what are the chances that she will make it even to viability? Is it at all possible to estimate how long she might live in utero?
    We must make our decision soon, and any information you might be able to provide us would be wonderful. Thank you for sharing your knowledge and expertise through this blog.

    Alison

     
  • At Sun Aug 02, 10:03:00 PM 2009, Anonymous Anonymous said…

    Hi Dr T,

    It's Katleyn here from the 25-June. Just wanted to let you know how things turned out. My partner and I decided we weren't comfortable with a risk of 1/342 at our age and wanted to find out as much information about our baby as possible. As such, we decided to go for the amnio. I'm very pleased to say we got the 'all clear' from the amnio and have had our 19 week scan which shows our little one is baking perfectly!

    After such a stressful time and with difficult decisions to make we consider ourselves very blessed. It's not a pleasant thing to have to consider and it very much consumes your every waking thought. My HCG levels obviously remain a mystery, but perhaps I'll know better than to stress soooo much next time. I think I might even give the 12 week screen a miss next time.

    Dr T, I would just like to let you know how much your sharing of knowledge was appreciated by my partner and I. The time you give each of us is very generous and it's great to have a site where we can to review and learn from each other's queries.

    Thanks so much,

    Katelyn

     
  • At Wed Aug 19, 07:19:00 PM 2009, Blogger Christine said…

    Dear Dr.T, I am not sure if I am in the correct blog site for my particular question....but I am giving it a try. We are wondering if you can give any insight into the Kell Factor. I have tested positive for the Kell antibody and unfortunately my son died five weeks ago from my antibodies attacking his red blood cells. He was three weeks old when he died and was very hydropic when he was born. I only had a 20 week ultrasound and he looked fine there. So they think he started to become hydropic at 24 or 25 weeks. My husband and I are actually doing blood work tomorrow to be sent to The Blood Bank of Wisconsin to characterize my husbands Kell Antigen. My question for you is that the specialist has given us only two options to have another baby- either a sperm donor who is Kell negative or doing in vitro with a Kell negative embryo (if my husband comes back heterozygous)- so do you agree that there are no other options? Is it possible to have a Kell negative child? My first born is also Kell positive, so now I am sensitized. Please let me know what you think. Should we altogether forget about doing the in vitro even if he is hetero, because it is too risky? I cannot bear to bury another child....please advise. Thanks for your time-Christine from Louisiana

     

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