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Neural tube defects in chromosomally normal and abnormal human embryos
W Coerdt1, K Miller, W Holzgreve
1Abteilung für Klinische Genetik, Philipps-Universität Marburg, Germany.
Summary
Chromosomal abnormalities are frequent in embryos with neural tube defects (NTDs) from spontaneous abortions. These findings highlight the link between genetic disorders and NTDs, aiding early diagnosis.
Area of Science:
- Developmental Biology
- Human Genetics
- Reproductive Medicine
Background:
- Neural tube defects (NTDs) are congenital abnormalities with significant impact.
- Understanding the etiology of NTDs is crucial for early detection and intervention.
- Spontaneous abortions often harbor developmental anomalies, including NTDs.
Purpose of the Study:
- To investigate the prevalence and types of chromosomal abnormalities in embryos with NTDs.
- To correlate specific chromosomal aberrations with distinct NTD phenotypes.
- To explore the morphological changes in NTDs for improved early ultrasound diagnosis.
Main Methods:
- Analysis of intact embryos from spontaneous and induced abortions.
- Karyotyping of embryos diagnosed with NTDs.
- Morphological assessment of neural tissue alterations.
Main Results:
- Eight of 91 spontaneously aborted embryos and one induced abortion case exhibited NTDs.
- Five of the nine NTD cases presented with chromosomal abnormalities.
- Specific trisomies (18, 7) and triploidy were associated with spina bifida and encephalocele; monosomy X linked to spina bifida and iniencephaly.
Conclusions:
- A high rate of chromosomal abnormalities exists in spontaneously aborted embryos with NTDs.
- Distinct NTD phenotypes correlate with specific chromosomal disorders.
- Morphological patterns of NTDs, from hyperplastic to degenerative, can inform early ultrasound diagnosis.