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Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood
Lone Sunde1,2, Ripudaman Singh3, Katarina Ravn3
1Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
Molecular Genetics & Genomic Medicine
|December 11, 2020
Summary
Diagnosing gestational trophoblastic disease is possible by analyzing circulating gestational trophoblasts from maternal blood. This method is more accurate than cell-free DNA analysis for determining genetic constitution without invasive procedures.
Area of Science:
- Reproductive Biology
- Genetics
- Gynecology
Background:
- Prognosis in gestational trophoblastic disease is linked to genetic makeup.
- Biopsy is contraindicated in certain cases, necessitating alternative diagnostic methods.
Observation:
- Ultrasound suggested hydatidiform mole in a pregnant woman.
- Circulating gestational trophoblasts and cell-free DNA were isolated from maternal blood prior to uterine evacuation.
- Evacuated tissue confirmed complete hydatidiform mole morphology.
Findings:
- Genotyping circulating gestational trophoblasts yielded identical results to evacuated tissue, confirming a diploid androgenetic nuclear genome.
- Cell-free DNA analysis proved less informative due to maternal DNA presence.
Implications:
- Circulating gestational trophoblasts can be isolated and analyzed without maternal nuclear DNA contribution.
- Genotyping circulating trophoblasts offers a superior diagnostic approach for gestational trophoblastic diseases compared to cell-free DNA analysis.
