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Sonographic diagnosis of fetal upper extremity dysmorphology: significance and outcome
1Department of Obstetrics and Gynecology, Brigham & Women's Hospital, Boston, Massachusetts, USA.
Insights
Prenatal ultrasound detection of fetal upper extremity contractures indicates a poor prognosis, with a 15% survival rate and a high incidence of chromosomal abnormalities, particularly trisomy 18.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Medical imaging
Background:
- Postural deformities and contractures of the upper extremities can be detected prenatally via ultrasound.
- Understanding the etiology, associated anomalies, and outcomes is crucial for genetic counseling and management.
Purpose of the Study:
- To determine the causes, co-occurring anomalies, and survival rates of fetuses with sonographically identified upper extremity postural deformities.
- To analyze the association between these fetal anomalies and chromosomal defects.
Main Methods:
- Retrospective review of 54 fetuses with sonographically detected upper extremity postural anomalies.
- Tabulation of sonographic findings and associated anomalies.
- Review of perinatal follow-up, karyotype results, maternal/newborn records, and pathology reports for 52 cases.
Main Results:
- High mortality rate: 85% (44/52) of fetuses were non-survivors.
- Significant chromosomal abnormalities: 59% (26/44) of karyotyped fetuses had aneuploidy, predominantly trisomy 18 (88% of aneuploidies).
- Associated anomalies: 43 fetuses had other sonographic abnormalities; amniotic fluid disturbances occurred in 48%.
Conclusions:
- Sonographic detection of upper extremity postural abnormalities in fetuses is associated with a guarded prognosis and low survival rate (15%).
- A high incidence of chromosomal defects, especially trisomy 18, is linked to these fetal anomalies.
- Normal karyotype cases may still involve genetic disorders, including fetal akinesia/dyskenesia sequence.
Abstract:
The aim of this study was to determine the etiology, associated anomalies and outcome of fetuses with postural deformities and contractures of the upper extremities detected sonographically. Fifty-four fetuses with sonographically detected postural anomalies of the upper extremities were identified from our database. Sonographic findings and associated anomalies were tabulated on the basis of the original sonogram. Perinatal follow-up and/or karyotype were available in 52 cases from a review of the maternal and newborn medical records and pathology reports. Of the 52 fetuses with sonographically detected anomalies of the upper extremities, 44 (85%) were non-survivors and eight (15%) were survivors. Forty-three fetuses had associated sonographic abnormalities. Karyotyping performed in 44 cases revealed 26 cases (59%) of aneuploidy, with trisomy 18 accounting for 23/26 (88%). In the setting of a normal karyotype, a variety of genetic disorders were found, including syndromes involving the fetal dyskinesia/akinesia sequence. Disturbances in amniotic fluid occurred in 48% of the cases (24 fetuses with polyhydramnios and one with oligohydramnios). In conclusion, the sonographic detection of postural abnormalities of the upper extremities carries a guarded prognosis, with survival in 15% of fetuses and a high incidence of chromosomal defects.