Related Experiment Videos
Trisomy 16 detected at chorion villus sampling
A F Hashish1, N A Monk, M P Lovell-Smith
1Department of Obstetrics and Gynaecology, Dunedin Hospital, New Zealand.
Prenatal Diagnosis
|June 1, 1989
Summary
Trisomy 16 detected via chorionic villus sampling (CVS) may indicate placental issues, not fetal ones. Conservative management can be suitable for pregnancies with trisomy 16 and normal ultrasounds.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Reproductive Medicine
Background:
- Chorionic villus sampling (CVS) is a common prenatal diagnostic tool.
- Trisomy 16 is a chromosomal abnormality that can be detected during pregnancy.
Observation:
- A case of trisomy 16 detected by CVS is presented.
- Placental samples showed trisomy 16, while fetal karyotype could not be confirmed.
- The pregnancy resulted in intrauterine fetal death at 37 weeks.
Findings:
- Cytogenetic analysis revealed 47, +16 in placental tissue.
- The fetus appeared morphologically normal, but fetal tissue culture failed.
- This suggests confined placental mosaicism (CPM) as a possibility.
Implications:
- Trisomy 16 on CVS may represent confined placental mosaicism.
- Conservative management might be appropriate for pregnancies with trisomy 16 and normal ultrasonography.
- Further investigation into the management of CPM is warranted.