Ples Liana, Sima Romina-Marina, Nedelea Florina, Moga Marius
UMF, Carol Davila, Bucharest, Romania.
St. John Hospital, Bucur Maternity, Bucharest, Romania.
Front Endocrinol (Lausanne). 2018 Jun 6;9:292. doi: 10.3389/fendo.2018.00292. eCollection 2018.
The importance of fetal nuchal translucency was highlighted in the early 1990s as a useful first-trimester marker to identify fetal chromosomal abnormalities. Here, we report the prenatal diagnosis of a fetus with Niemann-Pick disease type C initially identified by first-trimester ultrasonographic markers and eventually confirmed by extensive genetic evaluation.
The fetus of a 30-year-old woman exhibited a cystic hygroma in the first trimester of pregnancy. The woman underwent chorionic villus sampling with extensive genetic investigations to identify the genetic cause of the ultrasonographic findings. Owing to normal karyotype results, further evaluation of 1,024 genes underlying structural abnormalities was performed. This test identified a homozygous mutation of the gene (OMIM 601015), which has been reported to be pathogenic and responsible for Niemann-Pick disease type C2 (NPD-C2). Genetic evaluation of the parents found them to be carriers. Considering the poor prognosis, the parents decided to terminate the pregnancy. Ultrasonographic screening during the subsequent pregnancy showed normal findings; however, molecular testing for the previous familial mutation c.441 + 1G>A identified the fetus as homozygous for this mutation. Therefore, the parent chose to terminate the subsequent pregnancy as well.
We report the first prenatal diagnosis of NPD-C2 based on a cystic hygroma found during the first trimester of pregnancy as the sole indicator.
20世纪90年代初，胎儿颈部半透明带的重要性被凸显出来，它是用于识别胎儿染色体异常的一种有用的孕早期标志物。在此，我们报告一例最初通过孕早期超声标志物发现、最终经广泛基因评估确诊为C型尼曼-匹克病的胎儿的产前诊断情况。
一名30岁女性的胎儿在孕早期出现了颈部水囊瘤。该女性接受了绒毛取样及广泛的基因检测，以确定超声检查结果的遗传原因。由于核型结果正常，对1024个与结构异常相关的基因进行了进一步评估。此项检测发现了该基因（OMIM 601015）的纯合突变，据报道该突变具有致病性，是C2型尼曼-匹克病（NPD-C2）的致病原因。对父母的基因评估发现他们是携带者。考虑到预后不良，父母决定终止妊娠。后续妊娠期间的超声筛查显示结果正常；然而，针对先前家族性突变c.441+1G>A的分子检测发现该胎儿为该突变的纯合子。因此，父母也选择终止后续妊娠。
我们报告了首例基于孕早期发现的颈部水囊瘤作为唯一指标进行的NPD-C2产前诊断。
