Labs&Pathologyjanuary2007 1
Labs&Pathologyjanuary2007 1
Labs&Pathologyjanuary2007 1
DIAGNOSIS:
A) Placenta and cord:
1. Placenta with hypovascular villi consistent with prior fetal demise.
2. Decidual tissue and membranes with focal inflammation, non-specific.
3. No villitis.
B) Placenta and cord for chromosomal analysis:
Intrauterine fetal demise
Karyotype:
46,XY
Interpretation:
Apparently normal male karyotype.
There has been no evidence of growth of this specimen's fetal tissue (skin) after 10 days of
culturing, but the placental tissue did grow and a 20 cell study of the placenta tissue shows an
apparently normal male karyotype, Since the resulting specimen contained only placental tissue,
this study does not rule out mosaicism confined to the fetus that would lead to a false negative
interpretation of these results.
PLEASE NOTE: This male karyotype carries a pericentric inversion of the
heterochromatic region of one chromosome 9. This inversion Ewritten inv(9)(p12q13)) is
an apparently normal chromosomal variation (polymorphism) found in approximately 2%
of the general population. A large study carried out by Hsu et al. (1987) did not find any
deleterious phenotypic or clinical effect of this chromosomal polymorphism, nor of any
apparent association with fetal loss.
C) Thigh tissue for chromosomal analysis:
There has been no evidence of growth of this specimen’s fetal tissue (skin) after 10 days of
culturing.
ORGAN/TISSUE SITE:
Placenta and cord/placenta and cord/Thigh tissue skin
GROSS DESCRIPTION:
A) Received is placenta, umbilical cord, and fragments of blood clot and
decidual tissue. The placenta itself measures 9.2 x 7.5 x 2 cm. It weighs 74
grams. The umbilical cord is located within the central approximately 4 cm
from the nearest margin. There is an additional approximately 38 cm
umbilical cord. Twisting of the cord appears abnormal, with more twists per
centimeter than average. The placenta appears somewhat disrupted. The
membranes appear smooth. The cord has three vessels evident. Sections of
this are submitted. Representative sections are embedded.
B) The specimen is received in formalin labeled placenta and cord for
chromosome analysis and consists of a small amount of placental tissue
aggregating to 2.5 cm in greatest dimension. The specimen is entirely
sent for chromosome analysis.
C) The specimen is received in saline labeled thigh tissue skin for
chromosomal analysis and consists of a 1 .2 x 0.3 x 0.2 cm aggregate of
lightly tan soft tissue. The specimen is entirely sent for chromosomal
analysis.
MICROSCOPIC EXAMINATION
A) The microscopic examination substantiates the diagnosis cited.
B-C) Gross examination only, no microscopic examination done.
MICROBIOLOGY
FACV V PCR+RFLP (Factor V Leiden) Negative
COMMENTS
The sample is negative for Factor V Leiden R506Q polymorphism.
Interpretive data:
TEST INFORMATION: Factor V Leiden by PCR and Fluorescence
Monitoring, whole blood The factor V Leiden mutation is the most common
genetic risk factor for thrombosis and accounts for greater than 90% of
cases with APC resistance. Inherited thrombosis due to APC resistance is
considered an autosomal dominant disease; heterozygote carriers of the
factor V Leiden polymorphism have an increased risk of thrombosis of five-
to tenfold and homozygotes have a fifty-to hundredfold increased risk.
Estimated penetrable for homozygotes is close to 80 percent with a reduced
penetrable for heterozygotes (approximately 12-20 percent).
Mutations in other genes or other mutations in the factor V gene that may
cause APC resistance and venous thrombosis, are not ruled out.
Patient DNA was assayed for the Arg506Gln Leiden mutation in the factor
V gene by polymerase chain reaction (PCR), and fluorescence monitoring
using hybridization probes.
Sensitivity and specificity for detection of this mutation is 99.9 percent.
Normal
Range
Results
COMPLETE BLOOD COUNT
WBC 3.8-11.0 K/CMM 9.4
RBC 3.70-5.20 M/CMM 4.54
HGB 11.8-15.5 GM/DL 14.3
HCT 35.0-46.0 % FL 42.6
MCV FL 93.9
MCH 27.0-34.0 PG 31.5
MCHC 32.0-36.5 GM/DL 33.5
RDW 11.0-15.0 % 12.5
PLT 140-450 K/CMM 245
DIFFERENTIAL
DIFF VERIFY Normal Range Results
ABSOLUTE NEUTROPHIL 2.0-7.5 K/U 7.2
NEUTROPHIL % 50.0-75.0 % 77.2
LYMPH % 20.0-40.0 % 17.2
MONO % 5.0-14.0 % 4.7
BASOPHIL % .0-2.0 % .2
EOSINOPHIL % .0-6.0 % .7
C= A D-dimer level < 0.50 ug/ml in a patient with a low clinical pretest
probability for a 1st episode of DVT (see venous duplex ultrasound order
sheet) can rule out lower extremity DVT (rate of DVT in next 3 months <
2%).
Increased D-dimer is seen in thromboembolism, DIC, liver disease, renal
disease, cardiac infarct and failure, cancer, pregnancy, stroke, infection,
recent surgery, hemorrhage and age > 70 years.
D-dimer levels decrease with anticoagulation therapy and increasing clot
age.
COMMENTS:
APTT is normal. 1:2 Mix is not indicated.
DRVVT Screen is normal.
NEGATIVE TEST; THIS PATIENT DOES NOT HAVE A LUPUS
ANTICOAGULANT.
PROTEIN STUDIES
PT PCR NEGATIVE
The sample is negative for the factor II, prothrombin 20210A mutation.
Other causes of elevated prothrombin levels and hereditary forms of venous
thrombosis are not ruled out.
Interpretive data: TEST INFORMATION: Prothrombin Nucleotide 20210
G/A Gene
Mutation
The factor 11, prothrombin 20210A mutation is a common genetic risk
factor for thrombosis and is associated with elevated prothrombin levels.
Higher concentrations of prothrombin lead to increased rates of thrombin
generation, resulting in excessive growth of fibrin clots.
It is an autosomal dominant disorder, with heterozygotes being at a three-to
eleven fold greater risk for thrombosis. Although homozygosity is rare,
inheritance of two 20210A alleles would increase the risk for developing
thrombosis. If a patient is heterozygous for both the prothrombin 20210A
and the factor V Leiden mutation, the combined heterozygosity leads to an
earlier onset of thrombosis and tends to be more severe than single-gene
heterozygotes.
Mutations in other genes or other mutations in the prothrombin gene that
may cause elevated prothrombin and hereditary forms of venous thrombosis
are not ruled out.
Patient DNA was assayed for the G20210A mutation in the prothrombin
gene by polymerase chain reaction (PCR), and fluorescence monitoring
using hybridization probes.
Sensitivity and specificity for detection of this mutation is 99.9 percent.
C=Interpretive data:
REFERENCE INTERVAL: Anti-cardiolipin IgG Ab
Less than 15 GPL …………………..Absent or None Detected
15 - 19 GPL ..........…………………. Inconclusive
20 - 79 GPL ……………………….. Moderate Positive
80 GPL or greater …………………..High Positive
Results in the inconclusive range and positive results for IgM only,
should be carefully interpreted. Most patients with ''antiphospholipid
antibody syndrome'' (Br J Rheumatol 26:324-326 1987) have
moderate or high levels of cardiologic antibodies and are positive for
IgG only, or IgG and IgM.
D=Interpretive data:
REFERENCE INTERVALS: Anti-cardiolipin IgM
Less than 12 MPL …………………….Absent or none detected
12 - 19 MPL …………………………..Inconclusive
20 - 79 MPL ..........…………………... Moderate positive
80 MPL or greater …………………….High positive
Results in the inconclusive range and positive results for IgM only,
should be carefully interpreted. Most patients with ''antiphospholipid
antibody syndrome'' (Br J Rheumatol 26:324-326 1987) have
moderate or high levels of cardiologic antibodies and are positive for
IgG only, or IgG and IgM.
Cytomegalovirus Negative
Rubella Negative
Parvovirus Negative
HIV Negative
Hepatitis B Negative
Toxoplasmosis Negative
Listeria Negative
TSH (Thyroid) Normal