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Book of Medical Disorders in Pregnancy - Tintash

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fetal hydrops with monosomy X, or<br />

Turner's syndrome, gross and Cystic<br />

hygroma with monosomy X, or Turner's<br />

syndrome, gross. XXY: Kl<strong>in</strong>efelter's<br />

syndrome; features <strong>in</strong>clude elongated<br />

lower body, gynecomastia, testicular<br />

atrophy (<strong>in</strong>cidence: 1/500 males). Kl<strong>in</strong>efilter’s'<br />

syndrome karyotype, diagram.<br />

Triploidy: There is <strong>of</strong>ten a partial hydatidiform<br />

mole <strong>of</strong> placenta. Fetal features<br />

<strong>in</strong>clude 3-4 syndactyly, <strong>in</strong>dented<br />

nasal bridge, small size.<br />

Triploidy karyotype, diagram, Partial<br />

hydatidiform mole gross and 3-4 syndactyly<br />

with triploidy, gross. A host <strong>of</strong><br />

other chromosomal abnormalities are<br />

possible. In general, fetal loss earlier <strong>in</strong><br />

gestation, and multiple fetal losses, more<br />

strongly suggests a possible chromosomal<br />

ab-normality.<br />

Neural tube defects:<br />

The maternal serum alpha-fetoprote<strong>in</strong><br />

(MSAFP) is useful for screen<strong>in</strong>g for<br />

neural tube defects, but the gestational<br />

age must be known for proper <strong>in</strong>terpretation.<br />

The frequency <strong>of</strong> neural tube<br />

defects has been shown to be reduced if<br />

women supplement their diet with folic<br />

acid (before and dur<strong>in</strong>g pregnancy).<br />

Anencephaly: There is absence <strong>of</strong> the<br />

fetal cranial vault, so no cerebral hemispheres<br />

develop. Anencephaly is the most<br />

common congenital malformation about<br />

0.5 to 2/ 1000 live births. Other neural<br />

tube defects are as frequent, but the<br />

<strong>in</strong>cidence varies with geography.<br />

Anencephaly, gross and Anencephaly,<br />

gross. Iniencephaly: Imperfect formation<br />

<strong>of</strong> the base <strong>of</strong> the skull, with<br />

rachischisis and exaggerated lordosis <strong>of</strong><br />

the sp<strong>in</strong>e. Iniencephaly gross. Iniencephaly,<br />

gross Exencephaly: Incomplete<br />

cranial vault, but the bra<strong>in</strong> is present.<br />

201<br />

Exencephaly, gross. Men<strong>in</strong>gomyelocele:<br />

Defect <strong>in</strong> the vertebral column allow<strong>in</strong>g<br />

herniation <strong>of</strong> meniges and sp<strong>in</strong>al cord;<br />

location and size determ<strong>in</strong>e severity.<br />

Men<strong>in</strong>gomyelocele gross and Men<strong>in</strong>gomyelocele<br />

gross. Ence-phalocele: Herniation<br />

<strong>of</strong> bra<strong>in</strong> through a skull de-fect.<br />

Occipital encephalocele, radio-graph and<br />

occipital encephalocele with <strong>in</strong>iencephaly,<br />

gross Sp<strong>in</strong>a bifida: A de-fective<br />

closure <strong>of</strong> the posterior vertebral column.<br />

It may not be open (sp<strong>in</strong>a bifida<br />

occulta).<br />

Hydrops fetalis:<br />

There are many causes for fetal hydrops,<br />

and <strong>in</strong> about 25 to 30% <strong>of</strong> cases, no<br />

specific cause for hydrops can be<br />

identified. Multiple congenital anomalies<br />

can also be associated with hydrops,<br />

though the mechanism is obscure for<br />

everyth<strong>in</strong>g except cardiac anomalies that<br />

produce heart failure.<br />

Hydrops can be classified as immune<br />

and non immune. Immune causes such<br />

as Rh <strong>in</strong>come pati bility between mother<br />

and fetus are now uncommon.<br />

Non-immune causes can <strong>in</strong>clude:<br />

Congenital <strong>in</strong>fections, Cardiac anomalies,<br />

Chromosomal abnormalities, fetal<br />

neoplasms, Tw<strong>in</strong> pregnancy, fetal<br />

anemia and other ano-malies (pulmonary,<br />

renal, and gast-ro<strong>in</strong>test<strong>in</strong>al).<br />

Congenital <strong>in</strong>fections: The hallmark <strong>of</strong><br />

congenital <strong>in</strong>fections is fetal hydrops<br />

along with organomegaly. Diagnosis can<br />

depend upon: TORCH titers, Tissue culture<br />

and Histologic exam<strong>in</strong>ation.<br />

Disruptions: It is becom<strong>in</strong>g <strong>in</strong>creas<strong>in</strong>gly<br />

recognized that many fetal abnormalities

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