Elaine Brown, MD  
Female, 52
Billings, MT

Specialties: Pregnancy, Gynecology

Interests: obstetrics & gynecology, Gynecology
Elaine Brown, MD - BLOG
(406) 252-0022
Billings, MT
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Screening for Birth Defects in the First Trimester -- a New Trend

Feb 04, 2012 - 6 comments



Birth defects


first trimester






multiple pregnancy


advanced maternal age


Down's Syndrome

Historically antenatal screening was offered primarily to women older than 35.
These mothers were offered amniocentesis, which at that time was the only available option.
Thirty-five was chosen, because at this age, the risk of a fetal congenital abnormality was equal
to the risk of a procedure-related complication due to the amniocentesis--in other words,
the risk/benefit ratio tipped at this age to favor testing.

In reality, because the total number of babies born to women younger than 35 years old is
so much greater than the number born to older women, most babies with congential anomalies are born to women younger than 35. Obviously, amniocentesis,  though it remains the gold-standard diagnostic test,
is not a desireable screening tool for all women.  The procedure, which requires insertion of a needle through
the maternal abdominal wall directly into the fluid surrounding the fetus, is uncomfortable, invasive and is best
delayed until the second trimester. For this reason, clinicians continue to search for reliable alternative methods of
screening for Down's syndrome and other fetal genetic abnormalities.

Presently, the most efficient and widely-used screening test is the "quad" screen.
Made up of a panel of four blood analytes (alpha-fetoprotein[afp], human chorionic gonadotropin[hCG], unconjugated estriol, and inhibin-a), it is accurate, reliable and non-invasive.  The chief disadvantage is that as with the amniocentesis, the "quad" screen must be delayed until the second trimester.  Additionally, results are difficult to interpret in multiple gestations (twins and higher).

Recently, interest has been directed toward  first-trimester screening.  A combination of ultrasound and serum analytes has been implemented as a tool  in some centers. Though the optimal sequence of reporting results to the expectant parents remains controversial, there are definite benefits to having reliable data as early as possible in pregnancy.  Early reassurance will reduce the number of pregnancies put at risk by invasive tests, and will permit maximum options for management in affected pregnancies.

The "nuchal translucency" is a normal fluid fillled space at the back of the fetal neck.  With proper use of ultrasound technique, this space and its overlying skin can be accurately measured in most pregnancies between 10 and 14 weeks gestational age.  Abnormalities in this measurement correlate well with fetal Down's syndrome, other fetal aneuploidies and fetal major cardiac anomalies. Additionally, it is known that pregnancies affected by fetal Down's syndrome are associated with higher levels of free beta-hCG and lower levels of pregnancy-associated plasma protein-a (PAPP-A).  For a given pregnancy with a  combination both of a normal ultrasound study and normal values of beta-hCG/PAPP-A, clinicians can feel comfortable recommending deferral of invasive testing. Alternatively, abnormal values alert clinicians to recommend confirmatory testing with chorionic villus sampling(CVS) or amniocentesis.

Major disadvantages of first-trimester screening include expense, the ultrasound component is technically difficult to perform and must be done by specially trained technicians, and the need for an additional blood test in the second trimester to complete the evaluation. The "nuchal translucency" and PAPP-A/beta-hCG combination does not screen for spina bifida or ventral wall defects, therefore most authorities continue to recommend an alpha-fetoprotein the second trimester. While no single option is ideal for every pregnancy, first-trimester screening with "nuchal translucency" and free beta-hCG/PAPP-A, has definite advantages when early results are desireable.

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by adgal, Feb 05, 2012
This is a great blog Dr. Brown.  So many of us of "advanced maternal age" (really, can't the medical community come up with a better term..lol) worry about this issue, and of course about the risks associated with invasive testing such as amnio.  I am a bit confused reading this though...am I not correct in believing that currently the only truly diagnostic test is amnio or cvs?  I just wonder as when I was pregnant with my son (at 40) I had the NT combined with the blood serum and got a result of 1:13.  The Perinatologist recommended amnio which is what I opted for.  Fortunately my experience was a positive one with no complications, but would the quad screen have given me the same info?  It's all in the past now, but I know this subject is one that comes up often on the Pregnancy 35+ forum.  Thanks again Dr. Brown!

by Tylergrace19, Feb 13, 2012
I havnt had my period since november I am sexually active my partner and I have had unprotected sex a couple of time in December and January. I was on depo for birth control bit missed my last shot in aug. I have takin 4 dollar store test and all were negative. I'm super scared in only 19 and I'm not ready for a baby. Please help me I don't know who to ask.

Very sore breast, the middle part of my nipple is almost white
Eridable, sensitive feelin
Nashis when ridding in the car
Very hungry all the time also thirsty 24/7
Trouble falling asleep but I sleep super hard now when I finally do
More discharge then normal white/clear....

by Sarabara18, Sep 18, 2012
Ive been having a fluttering under my right rib cage, headaches, cramps, constant urination, boob aches, and weakness. Does anyone know what this could be?

by bussyray, Aug 27, 2014
Pregnancy!!! @ Sarah

by Raneshia14, Aug 30, 2014
Yeah What She ^ Said Sarah

by kmbmom, Sep 07, 2014
a test that is not mentioned above is a non-invasive blood draw called the maternat21 plus test. It offers a powerful glimpse into the pregnancy by evaluating the relative amount of chromosomal material. Analysis of chromosomes 21, 18, 13, X, Y, or other additional information can be requested by your healthcare provider. testing is done starting as soon as 10 weeks and results within 10 days. Also confirms the sex of the baby early. This is the most accurate and newest testing available.

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