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Book of Medical Disorders in Pregnancy - Tintash

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35Jt1 weeks <strong>of</strong> pregnancy and therefore<br />

the ratio <strong>of</strong> lecith<strong>in</strong> and sph<strong>in</strong>gomyel<strong>in</strong><br />

goes <strong>in</strong> favor <strong>of</strong> lecith<strong>in</strong>. For cl<strong>in</strong>ical<br />

purposes a ratio <strong>of</strong> 1:1 <strong>in</strong>dicates<br />

prematurity, while ratio <strong>of</strong> 1.5:1<br />

<strong>in</strong>dicates <strong>in</strong>termediate maturity, and a<br />

ratio <strong>of</strong> 2:1 or more <strong>in</strong> favor <strong>of</strong> lecith<strong>in</strong><br />

<strong>in</strong>dicates fetal lung maturity. Conditions<br />

<strong>in</strong> which the dilution is affected <strong>in</strong> the<br />

amniotic fluid such as <strong>in</strong> hydramnios or<br />

oligohydramnios. The co-ncentration <strong>of</strong><br />

bilirub<strong>in</strong> and creat<strong>in</strong><strong>in</strong>e should be<br />

<strong>in</strong>terpreted carefully. Fortun-ately as<br />

may be the case with bilirub<strong>in</strong> and<br />

creat<strong>in</strong><strong>in</strong>e.<br />

Chorionic villus sampl<strong>in</strong>g (CVS):<br />

In this procedure, a catheter is passed via<br />

the vag<strong>in</strong>a through the cervix and <strong>in</strong>to<br />

the uterus to the develop<strong>in</strong>g placenta<br />

under ultrasound guidance. Alternative<br />

approaches are transvag<strong>in</strong>al and transabdom<strong>in</strong>al.<br />

The <strong>in</strong>troduction <strong>of</strong> the catheter<br />

allows sampl<strong>in</strong>g <strong>of</strong> cells from the<br />

placental chorionic villi. These cells can<br />

then be analyzed by a variety <strong>of</strong><br />

techniques. The most common test employed<br />

on cells obta<strong>in</strong>ed by CVS is chromosome<br />

analysis to determ<strong>in</strong>e the karyotype<br />

<strong>of</strong> the fetus. The cells can also be<br />

grown <strong>in</strong> culture for biochemical or<br />

molecular biologic analysis. CVS can be<br />

safely performed between 9.5 and 12.5<br />

weeks gestation. CVS has the disadvantage<br />

<strong>of</strong> be<strong>in</strong>g an <strong>in</strong>vasive procedure,<br />

and it has a small but significant rate <strong>of</strong><br />

morbidity for the fetus; this loss rate is<br />

about 0.5 to 1% higher than for women<br />

undergo<strong>in</strong>g amniocentesis. Rarely, CVS<br />

can be associated with limb defects <strong>in</strong><br />

the fetus. The possibility <strong>of</strong> maternal Rh<br />

sensitization is present. There is also the<br />

possibility that maternal bloods cells <strong>in</strong><br />

the develop<strong>in</strong>g placenta will be sampled<br />

<strong>in</strong>stead <strong>of</strong> fetal cells and confound chro-<br />

196<br />

mosome analysis. Maternal blood sampl<strong>in</strong>g<br />

for fetal blood cells. This is a new<br />

technique that makes use <strong>of</strong> the<br />

phenomenon <strong>of</strong> fetal blood cells ga<strong>in</strong><strong>in</strong>g<br />

access to maternal circulation through<br />

the placental villi. Ord<strong>in</strong>arily, only a<br />

very small number <strong>of</strong> fetal cells enter the<br />

maternal circulation <strong>in</strong> this fashion (not<br />

enough to produce a positive Kleihauer-<br />

Betke test for fetal maternal hemorrhage).<br />

The fetal cells can be sorted<br />

out and analyzed by a variety <strong>of</strong><br />

techniques to look for particular DNA<br />

sequences, but without the risks that<br />

these latter two <strong>in</strong>vasive procedures<br />

<strong>in</strong>herently have. Fluorescence <strong>in</strong>-situ<br />

hybridization (FISH) is one technique<br />

that can be applied to identify particular<br />

chromosomes <strong>of</strong> the fetal cells recovered<br />

from maternal blood and diagnose aneuploid<br />

conditions such as the trisomies<br />

and monosomy X. The problem with this<br />

technique is that it is difficult to get<br />

many fetal blood cells. There may not be<br />

enough to reliably determ<strong>in</strong>e anomalies<br />

<strong>of</strong> the fetal karyotype or assay for other<br />

abnormalities.<br />

Maternal serum alpha fetoprote<strong>in</strong><br />

(MSAFP):<br />

The develop<strong>in</strong>g fetus has two major<br />

blood prote<strong>in</strong>s album<strong>in</strong> and alphafetoprote<strong>in</strong><br />

(AFP). S<strong>in</strong>ce adults typically<br />

have only album<strong>in</strong> <strong>in</strong> their blood, the<br />

MSAFP test can be utilized to determ<strong>in</strong>e<br />

the levels <strong>of</strong> AFP from the fetus. Ord<strong>in</strong>arily,<br />

only a small amount <strong>of</strong> AFP ga<strong>in</strong>s<br />

access to the amniotic fluid and crosses<br />

the placenta to mother's blood. However,<br />

when there is a neural tube defect <strong>in</strong> the<br />

fetus, from failure <strong>of</strong> part <strong>of</strong> the embryologic<br />

neural tube to close, then there is a<br />

means for escape <strong>of</strong> more AFP <strong>in</strong>to the<br />

amniotic fluid. Neural tube defects<br />

<strong>in</strong>clude anencephaly (failure <strong>of</strong> closure

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