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Product of Conception biopsy

Biopsy
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Report in 72Hrs

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At Home

nofastingrequire

No Fasting Required

Details

Histology of miscarriage tissue.

₹1,036₹1,480

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Product of Conception Biopsy - Comprehensive Medical Test Guide

  • Section 1: Why is it done?
    • Test Purpose: Histological and cytogenetic analysis of tissue obtained following pregnancy loss, miscarriage, or termination to determine the presence of chorionic villi or fetal tissue and identify chromosomal abnormalities.
    • Primary Indications: Recurrent pregnancy loss (RPL) evaluation; suspected chromosomal abnormalities; confirmation of intrauterine pregnancy; diagnosis of molar pregnancy (hydatidiform mole); detection of maternal contamination; assessment for aneuploidy (trisomy 13, 18, 21); identification of genetic causes of miscarriage.
    • Timing and Circumstances: Performed immediately following spontaneous miscarriage, dilation and curettage (D&C), dilation and evacuation (D&E), or suction aspiration; typically processed within 24-48 hours of collection; recommended after first trimester losses, particularly in patients with recurrent miscarriages.
  • Section 2: Normal Range
    • Normal/Reference Findings: 46, XX or 46, XY (normal diploid karyotype); presence of chorionic villi or fetal tissue confirming intrauterine pregnancy; no evidence of aneuploidy or structural chromosomal abnormalities; no molar pregnancy features.
    • Result Interpretation Categories: Euploid (normal): 46, XX or 46, XY; Aneuploid (abnormal): 45, X (Turner syndrome); 47, XXX; 47, XXY; 47, XYY; Trisomy 13, 18, 21; Polyploidy: 69, XXX or 69, XXY (triploidy); 92, XXXX (tetraploidy); Structural abnormalities: unbalanced rearrangements, deletions, duplications; Molar pregnancy: 46, XX or 46, XY with no fetal tissue.
    • Units and Measurements: Karyotype notation (45-92 chromosomes); histological: presence/absence of trophoblastic tissue, fetal parts, or chorionic villi; flow cytometry: percentage of cells with ploidy abnormalities; molecular: copy number variations (CNVs) detected by chromosomal microarray analysis (CMA).
    • Normal vs. Abnormal Interpretation: Normal: euploid karyotype with confirmed fetal tissue; Abnormal: any detected chromosomal abnormality, molar pregnancy, or maternal contamination; Inconclusive: insufficient fetal material, maternal cell contamination >50%, or failed analysis requiring repeat specimen.
  • Section 3: Interpretation
    • Euploid Results (Normal Karyotype): Indicates chromosomally normal pregnancy loss; suggests non-genetic causes (maternal factors, immunological disorders, placental insufficiency, uterine abnormalities, infections, hormonal imbalances); in recurrent pregnancy loss context, warrants evaluation for uterine pathology, thrombophilia, autoimmune conditions, and endocrine dysfunction.
    • Aneuploidy Results (Abnormal Chromosome Number): Trisomy 21, 18, 13: most common findings; associated with advanced maternal age; low recurrence risk for future pregnancies (typically <1% beyond maternal age risk); Monosomy X (45, X): Turner syndrome; less common but significant finding; Polyploidy (triploidy/tetraploidy): typically lethal; suggests meiotic or mitotic division errors; rare recurrence.
    • Molar Pregnancy Findings: Complete mole: 46, XX or 46, XY (all paternal origin); absence of fetal tissue; risk of gestational trophoblastic disease and malignant transformation; requires close monitoring with serial hCG levels; Partial mole: triploidy with fetal tissue present; lower malignancy risk but requires monitoring.
    • Maternal Contamination: Results showing only maternal cells (>80-90% maternal contribution); indicates insufficient fetal tissue or improper collection; result considered inconclusive; specimen should be recollected or analyzed using alternative methods (fluorescence in situ hybridization [FISH], quantitative fluorescent PCR [QF-PCR], or microarray).
    • Factors Affecting Interpretation: Maternal age (increased aneuploidy risk >35 years); timing of loss (earlier losses more likely euploid); quality and quantity of tissue obtained; laboratory processing time and methodology; presence of maternal decidua; sample contamination.
    • Clinical Significance: Provides definitive explanation for miscarriage; guides counseling regarding recurrence risk; influences prenatal screening recommendations for future pregnancies; identifies need for genetic counseling in cases of balanced chromosomal rearrangements or mosaicism; critical for management of recurrent pregnancy loss.
  • Section 4: Associated Organs and Systems
    • Primary Organ Systems Involved: Reproductive system (uterus, placenta, trophoblastic tissue); genetic/cytogenetic system (chromosomal composition); endocrine system (hormone production, placental hormones).
    • Medical Conditions Associated with Abnormal Results: Down syndrome (Trisomy 21); Edwards syndrome (Trisomy 18); Patau syndrome (Trisomy 13); Turner syndrome (Monosomy X); Klinefelter syndrome (XXY); Triple X syndrome (XXX); Jacob's syndrome (XYY); Complete or partial hydatidiform mole; Triploidy; Tetraploidy; Structural chromosomal rearrangements; Recurrent pregnancy loss syndrome.
    • Diseases Diagnosed or Investigated: Spontaneous abortion/miscarriage; ectopic pregnancy (confirmation of location); gestational trophoblastic disease; chromosomal abnormalities incompatible with life; maternal-fetal chromosomal conflicts; recurrent pregnancy loss of genetic etiology; abnormal first trimester screening results.
    • Potential Complications and Clinical Consequences: Gestational trophoblastic neoplasia (GTN) risk with molar pregnancy (5-10% malignant transformation); incomplete evacuation requiring repeat procedure; psychological impact of recurrent losses; implications for future pregnancy management; need for advanced maternal age screening or prenatal diagnosis; increased surveillance and testing costs for subsequent pregnancies.
  • Section 5: Follow-up Tests
    • Tests Recommended Based on Euploid Results: Pelvic ultrasound; Hysterosalpingography (HSG) or hysteroscopy to evaluate uterine abnormalities; Antiphospholipid panel testing; Thrombophilia screening (Factor V Leiden, prothrombin mutation, homocysteine levels); Thyroid function tests (TSH, free T4); Progesterone levels; Blood glucose screening for gestational diabetes; Immunological testing (NK cell assays, complement studies).
    • Tests for Aneuploid Results: Parental karyotyping (to exclude balanced rearrangements); Genetic counseling; Advanced maternal age assessment; Prenatal screening for future pregnancies (first trimester combined screening, quad screen, non-invasive prenatal testing [NIPT]); Detailed fetal ultrasound if pregnancy continues.
    • Tests for Molar Pregnancy: Serial quantitative hCG (baseline, 48 hours, then weekly until negative); Pelvic ultrasound 1-2 weeks post-evacuation; Chest X-ray (to exclude metastatic gestational trophoblastic disease); Continued monitoring for persistent gestational trophoblastic neoplasia; Gynecologic oncology referral if hCG plateau or rises.
    • Tests for Inconclusive/Contaminated Results: Repeat tissue biopsy if feasible; Fluorescence in situ hybridization (FISH) using alternative markers; Quantitative fluorescent PCR (QF-PCR); Chromosomal microarray analysis (CMA); Digital PCR for copy number variations.
    • Monitoring Frequency for Ongoing Management: Molar pregnancy: weekly hCG monitoring until normalization, then monthly for 6-12 months; Recurrent euploid losses: evaluation cycle typically completed 3-6 months after miscarriage; Future pregnancies: baseline ultrasound, first trimester screening (11-14 weeks), second trimester screening (18-22 weeks), third trimester assessment.
    • Complementary Tests: Histopathology report (fetal parts, abnormal trophoblastic proliferation); Microarray comparative genomic hybridization (aCGH) for structural variants; Next-generation sequencing (NGS) for complex anomalies; Parental chromosomal microarray if balanced rearrangement suspected.
  • Section 6: Fasting Required?
    • Fasting Requirement: NO - Fasting is NOT required for product of conception biopsy. This is a tissue-based pathological examination performed on material collected during evacuation procedures, not a blood test or metabolic study.
    • Pre-Procedure Preparation: Standard pre-operative fasting may be required depending on anesthesia type used during specimen collection (if D&C or D&E performed); typically NPO (nothing by mouth) for 6-8 hours prior if general or conscious sedation planned; follow specific instructions from surgical facility; can continue most medications unless otherwise instructed.
    • Special Instructions and Specimen Collection: Inform pathology/laboratory that specimen is for chromosomal analysis if not already communicated; tissue should be placed in appropriate fixative (typically 10% neutral buffered formalin) unless specific preservation medium required; specimen must be transported to laboratory promptly (within 24-48 hours); avoid contamination with maternal decidua when possible; maintain clear documentation of specimen source and clinical history.
    • Medications to Continue or Avoid: No specific medications need to be avoided for the biopsy analysis itself; if procedure involves anesthesia, discuss anticoagulants (aspirin, warfarin, DOACs) with surgical team; antibiotic prophylaxis may be recommended depending on procedure; pain management medications may be prescribed post-procedure.
    • Additional Patient Preparation: Undergo baseline laboratory testing (blood type, Rh status, complete blood count) prior to D&C/D&E if bleeding risk assessment needed; arrange for companion to drive if sedation used; plan for rest period post-procedure; arrange follow-up appointment for result discussion; allow 1-2 weeks for preliminary results; karyotyping results may take 2-4 weeks.

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