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Fetal micrognathia: associated anomalies and outcome
1Department of Obstetrics and Gynecology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Summary
Fetal micrognathia, identified via ultrasound, often indicates severe genetic issues like trisomy 18, leading to poor outcomes. Only 15% of cases had isolated micrognathia, with better survival rates in those instances.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Medical genetics
Background:
- Fetal micrognathia, a condition characterized by an abnormally small jaw, can be detected during prenatal ultrasounds.
- Its association with genetic abnormalities and clinical outcomes requires thorough investigation.
Purpose of the Study:
- To analyze the range of ultrasound findings in fetal micrognathia.
- To determine the frequency of karyotypic abnormalities associated with this condition.
- To evaluate the clinical outcomes and survival rates of affected fetuses.
Main Methods:
- Retrospective review of 20 cases with sonographically identified fetal micrognathia.
- Analysis of karyotype results for each fetus.
- Correlation of findings with clinical outcomes, including survival and associated anomalies.
Main Results:
- 25% of fetuses had abnormal karyotypes, including trisomy 18, 13, and 9.
- 80% of fetuses did not survive, with 10 in utero/neonatal deaths and 6 terminations.
- Isolated micrognathia occurred in 15% of cases, with 2 survivors (one with growth retardation, one with Pierre Robin syndrome).
- Polyhydramnios complicated 65% of pregnancies.
Conclusions:
- Fetal micrognathia is frequently associated with significant karyotypic abnormalities and lethal anomalies.
- The spectrum of diagnoses for prenatal micrognathia is broad, often indicating a poor prognosis.
- Isolated micrognathia may have a better prognosis, but requires careful monitoring for associated syndromes.