European journal of obstetrics, gynecology, and reproductive biology · 2026
NIPT failure due to excessive chromosomal aberrations in an autoimmune pregnancy.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Jiang Qianzhu, Yuan Lin
Аннотация
BACKGROUND: Noninvasive prenatal testing (NIPT) has been widely adopted in clinical practice for screening fetal aneuploidies and copy number variations (CNVs). However, a small proportion of cases exhibit unexplained test failures.
CASE PRESENTATION: This study reports a case with NIPT results showing Z-scores exceeding the reference range for 16 chromosomes. The case had been diagnosed with undifferentiated connective tissue disease (UCTD) prior to conception. Prenatal ultrasound findings showed no abnormalities, and neonatal follow-up demonstrated no significant abnormalities. Malignancy risk was preliminarily excluded, and autoimmune disease was controlled with medication during pregnancy. Existing literature indicates autoimmune conditions may lower fetal cell-free DNA fraction, and a few studies have linked excessive chromosomal aberrations in NIPT results to maternal malignancies. However, prior studies show plasma DNA from systemic lupus erythematosus (SLE) patients exhibits aberrant genomic features, potentially explaining excessive chromosomal aberrations in NIPT results from autoimmune disease (AID).
CONCLUSIONS: Maternal AID may be relevant to the NIPT failure in this case, and excessive chromosomal aberrations detected by NIPT suggest considering AID in addition to malignancies.
CASE PRESENTATION: This study reports a case with NIPT results showing Z-scores exceeding the reference range for 16 chromosomes. The case had been diagnosed with undifferentiated connective tissue disease (UCTD) prior to conception. Prenatal ultrasound findings showed no abnormalities, and neonatal follow-up demonstrated no significant abnormalities. Malignancy risk was preliminarily excluded, and autoimmune disease was controlled with medication during pregnancy. Existing literature indicates autoimmune conditions may lower fetal cell-free DNA fraction, and a few studies have linked excessive chromosomal aberrations in NIPT results to maternal malignancies. However, prior studies show plasma DNA from systemic lupus erythematosus (SLE) patients exhibits aberrant genomic features, potentially explaining excessive chromosomal aberrations in NIPT results from autoimmune disease (AID).
CONCLUSIONS: Maternal AID may be relevant to the NIPT failure in this case, and excessive chromosomal aberrations detected by NIPT suggest considering AID in addition to malignancies.