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First-trimester prenatal diagnosis in quintuplets: a practical approach using step-by-step embryo reduction
Y Dumez1, M Dommergues, S Lyonnet
1Clinique Universitaire Port Royal, Paris, France.
Prenatal Diagnosis
|September 1, 1991
Summary
Prenatal diagnosis for Mendelian disorders in high-rank multiple pregnancies is challenging. Embryo reduction enabled targeted chorionic villus sampling, allowing the birth of unaffected twins in a quintuplet pregnancy.
Area of Science:
- Reproductive Medicine
- Medical Genetics
- Obstetrics
Background:
- Couples at risk for Mendelian disorders may conceive multiple pregnancies.
- Prenatal diagnosis in such cases is complicated by challenges in obtaining and assigning chorionic villi samples to individual zygotes.
Observation:
- A quintuplet pregnancy at risk for non-ketotic hyperglycinaemia presented diagnostic challenges.
- Existing embryo reduction techniques, typically for improving perinatal outcomes, were considered.
Findings:
- A novel diagnostic strategy utilizing embryo reduction was proposed and applied.
- This approach facilitated the rational use of first-trimester chorionic villus sampling.
- Selective reduction allowed for the accurate genetic assessment of each embryo.
Implications:
- Embryo reduction can be repurposed as a tool for genetic diagnosis in high-risk multiple pregnancies.
- This strategy enables the selective birth of unaffected offspring.
- It offers a solution to the diagnostic difficulties in complex multiple gestations.