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09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Fetal spinal anomalies in a first-trimester sonographic screening program for aneuploidy
Waldo Sepulveda1, Amy E Wong, David E Fauchon
1Department of Obstetrics and Gynecology, Fetal Medicine Center, Clinica Las Condes, Santiago, Chile. fetalmed@yahoo.com
Prenatal Diagnosis
|August 25, 2010
Summary
First-trimester ultrasound can detect severe fetal spinal anomalies, but milder defects like spina bifida often require a second-trimester scan for diagnosis.
Area of Science:
- Medical Imaging
- Fetal Medicine
- Developmental Biology
Background:
- First-trimester screening for chromosomal abnormalities is common.
- Spinal anomalies can be associated with chromosomal and other major defects.
- Early detection of fetal anomalies improves management.
Purpose of the Study:
- To review sonographic features of spinal anomalies in first-trimester fetuses.
- To assess the detectability of various spinal defects in early pregnancy.
- To correlate spinal anomalies with chromosomal abnormalities.
Main Methods:
- Retrospective review of clinical data and sonograms.
- Inclusion of fetuses with prenatally or postnatally diagnosed spinal abnormalities.
- First-trimester sonographic evaluation as the primary data source.
Main Results:
- 21 fetuses with spinal anomalies were analyzed, including body stalk anomaly, spina bifida, and VACTERL association.
- Nine cases of spina bifida were identified, with 56% undiagnosed in the first trimester.
- Increased nuchal translucency was noted in 33% of cases, with only one aneuploidy found.
Conclusions:
- Severe fetal spinal abnormalities are often detectable in the first trimester.
- Diagnosis of subtle spinal defects is challenging early in pregnancy.
- A second-trimester scan remains crucial for detecting most cases of spina bifida.
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