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PATHOLOGY REPORT FROM JULY 2007 LOSS

DIAGNOSIS
Placenta and membranes, associated with intrauterine fetal demise at 18
weeks -- 133 gram singleton placenta with attached three vessel, 25 cm cord
with area of stenosis of mid-cord (no other pathologic abnormalities
identified.)

The significance of this area of narrowing of cord is uncertain. Such cord


narrowing with associated lesser degrees of warfarin zellae may predispose
to vascular compromise in that area.

CLINICAL INFORMATION
The patient is a 3l-year-old with intrauterine fetal demise at 18 weeks.

GROSS DESCRIPTION
The specimen is submitted as singleton placenta with attached cord and
membranes and consists of a placenta weighing 123 grams. The placental
disc measures approximately 11 x 9 cm with an attached cord measuring
approximately 25 cm in length. One area of narrowing is noted in the cord.
The maternal surface has a normal appearance. No areas suggestive of
infarction are identified grossly.

BLOCK SUMMARY:
Block 1: Sections through area of constriction of cord.
Block 2: Sections through membrane and more normal appearing cord.
Block 3: Sections of placental disc.
Block 4: Section through placental membrane, including area of membrane
with associated fluid present within the membrane.

Sections of placental membranes show no evidence of chorioamnionitis.


Sections of placental disc show no evidence of infarction or evidence of
ischemic change. No inflammatory activity is noted. Sections of cord show
autolytic change within the cord. No definite areas of thrombosis are present.
Sections through the area of apparent constriction of cord do not
demonstrate endothelial proliferation or thrombosis.
Summary of findings to date on recent 18 week Intrauterine Fetal Death
Pathology of the placenta: There is an area of stenosis in the mid-umbilical
cord. (this was noted at the time of delivery) There is no endothelial
proliferation or thrombosis at this area of constriction. The placenta shows
no infarction or chorioamnionitis.

Chromosome studies on placenta: 46 XY

Tissued received date: 7/17/2007


Reason for referral: Stillbirth
Testing performed: Chromosome Analysis
Staining performed: G-banding
Cell Analysis: Full – 6 Partial-14
Karyotyped: Full-2 Partial-1
Band Level Range: 525

INTERPRETATION:
Apparently normal male Karyotype.

The twenty metastases analyzed from this specimen have an apparently


normal male karyotype. Since this specimen contained only placental tissue,
this study does not rule out mosaicism confined to the embryo/fetus that
would lead to a false negative interpretation of these results.

Chromosome studies of mother and father: Both Normal

LAB RESULTS FOR JULY 2007 LOSS

Kleihauer-Betke: Positive for fetal maternal fetal whole blood.

The positive results listed would indicate a recent fetal maternal hemorrhage
of low magnitude. Using standard calculations based on approximately
average maternal weight and blood volume, the Fetal/|dult RBC ratio
computes a volume of fetal whole blood in the maternal circulation of 2.5 cc.

Stillborn infant HEMATOLOGY parameters


FETAL/ADULT RBC RATIO 0.0005

INTERPRETATION
Maternal peripheral blood is sampled and differentially stained for the
presence of fetal hemoglobin by Kleihauer-Betke technique. Patient's
specimen is examined after appropriately reactive positive and negative
controls were confirmed. A minimum of 2,000 negative staining red cells are
counted along with any positive staining red cells to establish the Fetal/Adult
RBC ratio listed below. The patient's sample demonstrated 1 positive
cells/200O negative cells. Multiple additional low power fields are
microscopically scanned to confirm these results.

Cardiolipin IgA, IgG and IgM: negative

AUTOIMMUNE
Tested By: ANW
Cardiolipin Antibody Results Interpretation
Cardiologic IgA 4.90 APL U/ml Negative
Cardiolipin IgG 3.95 GPL U/ml Negative
Cardiolipin IgM 6.74 MPL U/ml Negative

Methylenetetrahydrofolate Reductive mutation Detection


(MTHFR mutation)

MTHFR Mutation: C677T Heterozygous


MTHFR Mutation: A1298C Negative

Interpretation: The sample has one copy of the MTHFR C677T mutation
and is negative for the A1298C mutation. This is associated with
intermediate levels of enzyme activity, but no increase in plasma
homocysteine levels. It has not been correlated with coronary disease.

Interpretive data: The C671T and A1298C mutations in the heterozygous or


homozygous states correlate with reduced enzyme activity.
But only individuals homozygous for C677T mutation or compound
heterozygous for the C677T/ A1298C mutations have significantly elevated
plasma homocysteine levels.
Homozygosity for the C677T mutation (from 1.5 to 15% of the population)
is associated with intermediate and mild hyperhomocysteinemia and a 3-fold
increased risk for premature cardiovascular disease. Although correlation
data is known, penetrable information is not available.
Less is known about the penetrance and risk associated with compound
heterozygosity for the C677T/A1298C mutations. Double homozygotes have
not been reported in the population.
Mutations in other genes, or mutations other than C677T and A1298C in the
MTHFR gene, that may cause increased plasma homocysteine, coronary
heart disease, or venous thrombosis, are not ruled out.

Patient DNA is assayed for the C677T and A1298C mutations in the
methylenetetrahydrofolate reductive gene by polymerase chain reaction
(PCR), and fluorescence monitoring using hybridizatin probes. Sensitivity
and specificity for detection of these mutations are 99.9%.
Normal Results
Protein S Antigen, Free 55-125 69
AT 3 Chm 80-120 88
Protein C Chm 70-130 111

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