A Case of Prenatal Diagnosis of NFIA -Related Disorder Indicated by Noninvasive Prenatal Testing

Few cases of prenatal screening and diagnosis for NFIA-related disorders (OMIM # 613735) have been reported. Noninvasive prenatal testing (NIPT) has been extensively utilized for the screening of fetal chromosomal abnormalities. Here, we report a case of prenatal diagnosis of an NFIA-related disorder following the NIPT result. A 24-year-old pregnant woman chose expanded noninvasive prenatal testing (NIPT-plus) for screening fetal chromosomal abnormalities at 19 weeks and 5 days of gestation with a singleton pregnancy. The results of NIPT-plus revealed a 0.9 Mb deletion in chromosome 1p31.3, including the NFIA gene, which was confirmed after amniocentesis using copy number variation sequencing. At 24 weeks of gestation, ultrasound observations revealed that there was an enlargement in the occipitofrontal diameter, protrusion of the forehead, anterior rotation of the nasal passages, and a shortened nasal bone. These phenotypic manifestations observed were consistent with the deletion of the NFIA gene. After being informed of the associated risks of this syndrome, the pregnant woman and her family decided to terminate the pregnancy at 26⁺⁴ weeks of gestation. We presented the first case of prenatal diagnosis of NFIA-related disorder following the results of NIPT. NIPT could provide insights at earlier gestational stages than ultrasound for screening NFIA-related disorder.