Book of Medical Disorders in Pregnancy - Tintash
Book of Medical Disorders in Pregnancy - Tintash
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