There are many options for screening for Trisomy 21 (Down's syndrome), Trisomy 18 or Trisomy 13 during pregnancy. These chromosomal abnormalities are the most common genetic causes of mental retardation. Infants born with Trisomy 18 or 13 rarely survive past one year of age, children born with Trisomy 21 will have developmental problems but can survive well into adulthood. A pregnant woman's chance of having a fetus with any of these conditions increases as a woman ages due to the aging of the oocytes (or eggs).
The genetic screening options currently available include integrated screening or sequential screening. Both involve a blood test and ultrasound in the first trimester with another blood test in the second trimester. The overall detection rate is approximately 90% for both options. The difference between the two options is that a patient is sequentially notified of results with the sequential screen (i.e.-a risk is calculated after the first trimester ultrasound and blood test and the patient is notified, then the risk is recalculated after the second trimester test and the patient is notified.) The integrated screening combines both results and calculates one risk which the patient is notified of during the second trimester. The advantage of the sequential screen is being informed in the first trimester if the woman has an elevated risk. A woman may then choose to proceed to invasive testing(more details on invasive testing later) for confirmation of a fetus with a chromosomal abnormality. The advantage of the integrated screening is that it has the highest detection rate and lowest false positive rate but a woman would not be informed until the second trimester.
Invasive testing for chromosomal abnormalities include chorionic villus sampling and amniocentesis. The tests obtain fetal cells, grow the cells in a culture, and then test for the chromosomes directly. The accuracy is 99%. Chorionic villus sampling is done in the first trimester. It involves using a needle to obtain a portion of the placenta. The needle can go either through the cervix or the abdomen. The pregnancy loss rate associated with chorionic villus sampling is approximately 1 in 100 procedures. The advanatage of the chorionic villus sampling is that it allows a women to know whether her fetus has a chromosomal abnormality within the first trimester.
Amniocentesis is done during the second trimester and involves a needle into the woman's abdomen and obtaining amniotic fluid. The fetal cells are then grown in culture and chromosomal results are obtained. The pregnancy loss rate for amniocentesis is 1 in 300-400 procedures. The advanatage of the amniocentesis is the lower pregnancy loss rate but with the disadvantage of not having results until the second trimester.
I recommend for all my patients to consider genetic screening. I think it is helpful to know if a woman has a higher risk of having a child with a chromosomal abnormality because I think it is useful to be prepared with that information before the fetus is born. These tests can also indicate if there is possibly something wrong with the placenta even if the chromosomes are normal which would require closer monitoring during pregnancy. Most insurance plans cover testing as a basic obstetrical practice.
Here are some additional links regarding genetic screening:
http://www.uptodate.com/contents/patient-information-should-i-have-a-screening-test-for-down-syndrome-during-pregnancy?source=see_link
http://www.uptodate.com/contents/patient-information-chorionic-villus-sampling?source=see_link
http://www.uptodate.com/contents/patient-information-amniocentesis?source=search_result&search=amniocentesis&selectedTitle=2%7E150
http://www.acog.org/publications/faq/faq165.cfm
Tuesday, November 29, 2011
Tuesday, November 8, 2011
Influenza in pregnancy
My plan of action will be to discuss what issues seem to be most common in my practice and offer my insight and education on that topic. Today I will discuss influenza vaccination during pregnancy. Flu season begins in October and goes until May. Symptoms of the flu include fever, chills, body aches, nausea, vomiting, diarrhea, sore throat, cough. None of these symptoms are fun, particularly when you are pregnant! I recommend to all my patients who are pregnant to obtain influenza vaccination. My reasons for recommendation are that women have a relatively weaker immune system while they are pregnant which can lead to more serious illness when getting sick. Medical studies from times of flu pandemics like in the early 1900s and more recently with H1N1 show that women who are pregnant are more likely to be hospitalized, more likely to be seriously ill, and more likely to die when they are infected with influenza. It is safe to receive influenza vaccination any time during pregnacy.
The other added benefit for influenza vaccination is the passive immunization of a newborn. An infant can not be immunized against influenza until they are 6 months of age; however, if the mother receives vaccination, those antibodies will cross the placenta and help with immunity for their newborn. Please check out the following links for more information regarding influenza vaccination in pregnancy.
Boulder OB/GYN
I love my work as an ob/gyn! I enjoy all aspects of my job including both the obstetrical and gynecological care. I particularly enjoy caring for my patients throughout their pregnancy and supporting her in the process of becoming a new mother. As a mother of two children myself, I feel I have the bond of motherhood with them and am able to offer any perspective or lessons I have learned in my process of being a mother. I also really enjoy helping women with difficult gynecological issues through medical or surgical care. I have been blessed with excellent surgical skills and am eager to assist women with their gynecological diseases with surgical treatment if they so desire.
I am specifically trained in treatment of routine and high risk pregnancies including pregnancies affected by diabetes, hypertensive disease or medical diseases in conjunction with recommendations from a perinatologist. My goal for each patient is a healthy mom and healthy baby at the end of each pregnancy. I encourage my patients to discuss with me their hopes and desires for childbirth and I aim to honor those wishes in the realm of safety for her and her fetus. I also enjoy helping my patients with the transition from pregnancy to motherhood and the unique issues that arise in the postpartum period including postpartum depression, contraception choices, breastfeeding counseling, and vaginal pain syndromes that may occur after delivery.
My areas of expertise in gynecology include management of abnormal periods, abnormal pap smears, pelvic pain, urinary incontinence, pelvic organ prolapse, vulvar pain syndromes, sexually transmitted diseases, breast health, difficulties with conception and infertility evaluation, and contraceptive options. Many of these problems can be treated with medical management; however I am trained in all surgical management techniques including endometrial ablation, hysterectomy, laparoscopy, laparotomy, urethral slings, repair of vaginal vault prolapse, tubal ligation and tubal occlusion, and hysteroscopy.
My goal in creating this blog is to offer education and insight to my patients and anyone else searching the internet for answers to their obstetrical and gynecological questions. I will cover a range of topics and will try to post weekly, so it may take me awhile before all the topics are covered. I will also post links to credible internet sites for additional information.
Thanks for perusing my blog-I just want to help women understand their bodies and help them to feel better!
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