Labs & Pathology: July 2007 (Miles)



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.


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


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 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


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


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



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


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