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JUST MAKING SURE DOCTORS ARE WORKING TO MAKE PRENATAL TESTING AS PAINLESS AS POSSIBLE.


Byline: Evan Henerson Staff Writer

So you're pregnant? Congratulations, says your doctor. Now drink this, strap yourself to this machine, step on this scale. We'll need blood, urine and the all-important family history. This may taste funny. Now this one will sting. We'll call you with the results in a couple of weeks.

Feel like a pin cushion? A lab rat? That's natural. You're testing for two.

The good news is doctors and researchers are constantly working to make the process more efficient and more comfortable.

Diagnostic and screening tests have long been a routine part of the prenatal process, designed to rule out all sorts of conditions - from genetic abnormalities like Down syndrome Down syndrome, congenital disorder characterized by mild to severe mental retardation, slow physical development, and characteristic physical features. Down syndrome affects about 1 in every 730 live births and occurs in all populations equally.  to spina bifida and Tay-Sachs disease Tay-Sachs disease (tā`-săks`), rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. . Typically, the older a woman is, the greater the risk to her child and the more tests her obstetrician obstetrician /ob·ste·tri·cian/ (ob?ste-trish´in) one who practices obstetrics.

ob·ste·tri·cian
n.
A physician who specializes in obstetrics.
 will recommend she undergo. Ethnic background and family medical history also play significant roles.

The results of swab tests, urinalysis and other procedures are analyzed to measure a veritable alphabet soup of medical conditions: alpha-fetoprotein (AFP (1) (AppleTalk Filing Protocol) The file sharing protocol used in an AppleTalk network. In order for non-Apple networks to access data in an AppleShare server, their protocols must translate into the AFP language. See file sharing protocol. ), human chorionic gonadotropin human chorionic gonadotropin (HCG): see gonadotropic hormone.  (hCG), and unconjugated estriol estriol /es·tri·ol/ (es´tre-ol) a relatively weak human estrogen (q.v.), being a metabolic product of estradiol and estrone found in high concentrations in urine, especially during pregnancy.  (uE3). Positive results generally mean the news isn't good.

``It sounds like a lot. It is a lot,'' says Dr. Karen Filkins, director of reproductive genetics in the department of obstetrics and gynecology obstetrics and gynecology

Medical and surgical specialty concerned with the management of pregnancy and childbirth and with the health of the female reproductive system.
 at UCLA UCLA University of California at Los Angeles
UCLA University Center for Learning Assistance (Illinois State University)
UCLA University of Carrollton, TX and Lower Addison, TX
. ``It's very individually tailored. Someone looks over each patient to decide what they need.''

By now, Sheila Oasay knows the drill. Expecting her fifth child in April, Oasay says she follows the recommendations of her doctor, Eldridge Pearsall, director of the New Arrivals program at Northridge Hospital Medical Center's Sherman Way campus in Van Nuys.

``You can refuse the testing. You don't have to do it. You have a choice,'' says Oasay, 38, who lives in Burbank. ``It just puts me at ease, and I trust my doctor with everything. If he told me to stand on my head, I probably would.''

In the case of four out of five of Oasay's pregnancies, Pearsall has recommended an amniocentesis amniocentesis (ăm'nēō'sĕntē`sĭs), diagnostic procedure in which a sample of the amniotic fluid surrounding a fetus is removed from the uterus by means of a fine needle inserted through the abdomen of the pregnant woman (see , a frequently performed diagnostic test designed to locate the presence of chromosome abnormalities such as Down syndrome. The test, which involves inserting a needle into the abdomen to collect a sample of amniotic fluid amniotic fluid
n.
The fluid within the amnion that surrounds the fetus and protects it from injury.


Amniotic fluid
The liquid that surrounds the baby within the amniotic sac.
, is recommended for women over 35, but Oasay said the presence of retardation in her family's background made the test important even before she got into the higher-risk age range.

Considered by most physicians to be the ``gold standard'' of tests, amniocentesis - or ``amnio'' - was performed on more than 112,000 women in 1998 - the most recent year for which data are available. One recent study suggests many women might be undergoing amniocentesis unnecessarily. The study, led by Dr. Rebecca Smith-Bindman at the University of California, San Francisco Coordinates:  , found that of seven markers on ultrasound tests thought to increase the risk of Down syndrome, only one was found reliable enough to justify an amnio Noun 1. amnio - (pregnancy) extraction by centesis of amniotic fluid from a pregnant woman (after the 15th week of pregnancy) to aid in the diagnosis of fetal abnormalities
amniocentesis
.

This causes some concern because the procedure - performed in the second trimester, usually at 14 to 16 weeks - poses the slight possibility of causing infection, leaking or a miscarriage. Nearly all insurance companies will pay for the test if the patient is over 35 or otherwise considered to be in a high-risk category.

Considered just as invasive as amnio, chorionic villus sampling chorionic villus sampling (CVS) or chorionic villus biopsy (CVB) (kōr'ē-ŏn`ĭk, kôr'–), diagnostic procedure in which a sample of chorionic villi from the developing placenta is removed from the , or CVS (1) (Concurrent Versions System) A version control system for Unix that was initially developed as a series of shell scripts in the mid-1980s. CVS maintains the changes between one source code version and another and stores all the changes in one file. , requires a catheter to be inserted into the abdomen or vagina to take a tissue sample from the placenta. This procedure can be done earlier in the pregnancy (in the ninth to 11th week) and yields less data, but the results can be determined faster. CVS also carries a slightly higher risk of causing pregnancy complications than the amnio.

And new tests are in the development phase with researchers constantly looking for Looking for

In the context of general equities, this describing a buy interest in which a dealer is asked to offer stock, often involving a capital commitment. Antithesis of in touch with.
 ways to administer tests less painfully and earlier in the pregnancy. The sooner a woman can rule out the possibility of complications, researchers say, the more comfortable - physically and psychologically - she is likely to be through the remainder of the pregnancy. And if there is a high risk the child will be born with birth defects birth defects, abnormalities in physical or mental structure or function that are present at birth. They range from minor to seriously deforming or life-threatening. A major defect of some type occurs in approximately 3% of all births. , the sooner a woman knows, doctors say, the easier it will be for her either to prepare herself or terminate the pregnancy.

Filkins has studied a combination finger-stick blood test and ultrasound test designed to locate signs of chromosome abnormalities that could indicate Down syndrome or trisomy trisomy /tri·so·my/ (tri´so-me) the presence of an additional (third) chromosome of one type in an otherwise diploid cell (2n + 1). See also entries under syndrome. triso´mic

tri·so·my
n.
 18. Performed during the first trimester, the test is designed to locate for analysis the same chemicals that the triple marker screen - taken during the 15th to 20th week - will detect. Also called the maternal serum screening test, the triple marker looks for the presence of three chemicals, the levels of which may indicate the possibility of a chromosome or neural tube defect neural tube defect

Congenital defect of the brain or spinal cord from abnormal growth of their precursor, the neural tube (see embryology), usually with spine or skull defects.
.

The first-trimester blood/ultrasound screening is still in the investigational stage, and therefore ``so dependent on operator skills and proper technique,'' says Dr. John Williams III, co-director of the Department of Reproductive Genetics at Cedars-Sinai Medical Center Cedars-Sinai Medical Center is a world-renowned hospital located in Los Angeles, California. History
Cedars-Sinai is the result of a merger in 1961 between two major Los Angeles hospitals, Cedars of Lebanon and Mount Sinai Home for the Incurables, with Steve Broidy as
. ``It appears it is going to be a very good, very useful test once individuals are properly trained to perform it.''

Williams also points out that the early test is ``a screening test, not a diagnostic test. You can get very close, but the results picked up on the ultrasound have to be confirmed. Amniocentesis and CVS are diagnostic tests. By nature, they're also invasive.''

The discomfort factor is enough to scare some patients away from certain tests, says Northridge's Pearsall, who admits that having somebody come at you with a 3 1/2-inch needle can be daunting daunt  
tr.v. daunt·ed, daunt·ing, daunts
To abate the courage of; discourage. See Synonyms at dismay.



[Middle English daunten, from Old French danter, from Latin
, no matter how much training the technician has had.

Women who are determined to complete a pregnancy regardless of what a diagnostic test reveals can balk balk

the action of a horse when it refuses to obey a command to which it usually responds. See also jibbing.
 at any kind of test. But the ``I don't want to know'' argument isn't a strong one, according to Pearsall.

``I try to tell the patients that we're not really trying to find people that need to have an abortion to eliminate defective babies,'' he said. ``We're trying to find as many problems as we can before the baby is born. With Down syndrome, you can have cardiac defects and various other things. Parents can get some counseling, so they're emotionally prepared to have a baby with Down syndrome.''

As she sat in Pearsall's office, listening to him discuss potential Down syndrome-related complications, Morassa Dabirian said she became increasingly convinced of the need for an amnio in her second trimester.

Dabirian will be 42 when she delivers her child - her third - in October, and she says she'll continue her pregnancy regardless of the test results.

But the risk factors associated with her age worry her more than her concerns over potential complications from the test itself.

``My husband is against (having the amnio),'' she admits. ``He says whatever the baby is, it's our baby, and we will carry it, but I want to do it because I want to know the health of the baby. We need to be prepared in case there's something wrong.''

According to Williams at Cedars-Sinai, patients facing any type of invasive screening test should carefully screen the person performing the procedure by asking how much experience the doctor has had, if he is state approved, how many procedures he performs per month and per year.

``Many independent physicians may do one CVS procedure every two to three months,'' said Williams. ``That's probably not enough to maintain the skills.''

Tests: What's available

Routine screenings take place at every stage of a woman's pregnancy. When and how they're performed, and what doctors are looking for:

Blood pressure: Performed at every prenatal visit via a blood pressure gauge. Increased blood volume and fetal blood circulation that occurs in pregnancy increases the demands on the mother's cardiovascular system cardiovascular system: see circulatory system.
cardiovascular system

System of vessels that convey blood to and from tissues throughout the body, bringing nutrients and oxygen and removing wastes and carbon dioxide.
. High blood pressure, or pregnancy-induced hypertension, can lead to preterm labor; reduced kidney function; or separation of the placenta, leading to bleeding and reduced blood flow to the baby and to possible retarded growth and development.

Gonorrhea gonorrhea (gŏnərē`ə), common infectious disease caused by a bacterium (Neisseria gonorrhoeae), involving chiefly the mucous membranes of the genitourinary tract. , chlamydia chlamydia (kləmĭd`ēə), genus of microorganisms that cause a variety of diseases in humans and other animals. Psittacosis, or parrot fever, caused by the species Chlamydia psittaci,  and syphilis: A swab test performed during the first trimester, at up to 12 weeks of gestation. These three sexually transmitted diseases Sexually transmitted diseases

Infections that are acquired and transmitted by sexual contact. Although virtually any infection may be transmitted during intimate contact, the term sexually transmitted disease is restricted to conditions that are largely
 can affect an unborn baby if a mother is infected. They can cause a miscarriage or infect the baby during the delivery.

Blood type and antibody screen: Performed during the first trimester, the test determines whether the mother and baby's blood are compatible. If they are not, the mother may need to receive an injection to prevent her blood from reacting badly with the baby's.

Urine screen for sugar and protein: A urine check is typically done at each prenatal visit. A high sugar level may be a sign of gestational diabetes. Protein in the urine can mean bladder or kidney problems.

Glucose tolerance screening: Conducted between the 24th and 28th week. Abnormally high levels of sugar in the mother's blood may be passed to the baby and cause it to develop breathing problems after birth. Gestational diabetes can be controlled with a special diet and/or insulin injections.

Triple marker screen: A blood test conducted during the second trimester. This test measures levels of human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and estriol. The levels of AFP and estriol typically rise during the second trimester, while hCG decreases. Measuring all three levels gives information about the risk for birth defects such as Down syndrome, and neural tube defects Neural tube defects
A group of birth defects that affect the backbone and sometimes the spinal chord.

Mentioned in: Birth Defects
 like spina bifida.

Amniocentesis: Optional test performed during second trimester, usually at between 15th and 18th week. A diagnostic test for women over age 35 who have a higher-than-usual risk for genetic disorders or whose AFP or triple screening tests results were suspicious. After an ultrasound determines the position of the baby, a needle is inserted into the abdomen to remove a sample of amniotic fluid. Analysis can detect neural tube defects and genetic disorders. Amniocentesis is sometimes used later in pregnancy to determine fetal lung maturity fetal lung maturity Obstetrics A parameter that determines the likelihood a neonate will develop RDS; infants delivered at 40 ± 2 wks have 0% incidence of RDS; at 36 wks 0-2%, at 34 wks 8-34%–depending on birthweight  in high-risk cases. The procedure carries a slight risk of infection or miscarriage.

Chorionic Villus Sampling (CVS): Optional test performed in the ninth to 11th week. A catheter inserted in the abdomen or vagina obtains a section of the placenta. As with an amniocentesis, analysis can detect neural tube defects and genetic disorders. This procedure also carries a slight risk of miscarriage.

Fetal monitoring: Performed during the third trimester, usually in high-risk pregnancies, preterm labor or overdue babies. An electronic monitor is strapped to the mother's abdomen to measure the fetal heartbeat, mother's heartbeat and mother's uterine muscle contractions. A nonstress test and a stress test - designed to increase the baby's heart rate - help determine how well the baby will handle the stress of delivery.

Ultrasound: Performed at all stages of pregnancy. As early as six weeks, Doppler ultrasound can be used to detect the baby's heartbeat. Between 18 and 22 weeks, during a routine ultrasound exam, a hand-held transducer is moved against the outside of the mother's abdomen, and the baby, placenta and amniotic sac can be visualized.

During an ultrasound, a doctor can confirm the gestational age of the baby, and often determine its sex. Ultrasound can also be used to diagnose or rule out complications later in pregnancy.

CAPTION(S):

3 photos, box

Photo: (1 -- cover -- color) Testing for two

Pregnancy brings a litany of screenings meant to ensure the health of mother and baby

Charlotte Schmid-Maybach/Staff Photographer

(2 -- 3) Sheila Oasay, Burbank, undergoes an ultrasound screening test, like the one shown (inset) from another patient. The test is being administered by Dr. Eldridge Pearsall in his Van Nuys office.

Tina Burch/Staff Photographer

Box: Tests: What's available (see text)

Sources: American Association of Clinical Chemistry, epregnancy.com and howstuffworks.com
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Title Annotation:L.A. Life
Publication:Daily News (Los Angeles, CA)
Article Type:Statistical Data Included
Date:Mar 19, 2001
Words:1935
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