Maternal Fetal Medicine Unit, University Department of Obstetrics and Gynecology "Policlinico Riuniti Foggia", Foggia, Italy.
J Clin Ultrasound. 2024 Oct;52(8):1087-1095. doi: 10.1002/jcu.23768. Epub 2024 Jul 31.
To evaluate the prevalence of chromosomal anomalies in fetuses affected by increased nuchal translucency(iNT >99Th centile), cystic hygroma (CH) and cases progressing to fetal hydrops (NIHF) in order to correlate this result to prognosis and perinatal fetal outcomes, improving patient's counseling.
From January 2020 to December 2023, first trimester screening according to FMF criteria were performed in "Maternal fetal medicine Unit" of Foggia's hospital. We studied and collected clinical data of fetuses affected by nuchal translucency >99th centile (iNT), CH and cases progressing to Fetal Hydrops (non-immune fetal hydrop, NIFH). In these selected cases, we evaluated fetal Karyotype to demonstrate the presence of chromosomal abnormalities, associated to fetal structural anomalies and different pregnancy outcome.
We have evaluated 45 cases of iNT, CH, and NIFH, identified by ultrasound during first trimester screening. Of these 45 pregnant women, four were lost to follow-up. Of the 41 pregnancies, 20 cases (48.8%) delivered at our division with newborns discharged in good health. Of the 21 patients (51.2%) who miscarried, only two miscarried spontaneously; the other 19 decided on a medical termination of pregnancy (MTP). The 19 patients who decided for MTP showed genetic abnormalities and/or malformation. The 20 cases of fetuses discharged as healthy newborns were enrolled with the following diagnoses: 5 had a diagnosis of CH (20% of cases), 1 case of NIFH (5% of cases), and 14 of iNT (75% of cases). All these fetuses had a normal karyotype and no major malformations.
Isolated CH diagnosis is more frequent than described in Literature (5 cases out of 12: 41.7%) and their prognosis are better than previously described, with the same outcomes of fetuses with iNT without associated anomalies. The possibility of early diagnosis of chromosomal anomalies, associated malformations or the evolution into hydrops is essential for a complete consultation.
评估颈项透明层（iNT>99 百分位）增厚、囊状水瘤（CH）和进展为胎儿水肿（非免疫性胎儿水肿，NIFH）的胎儿中染色体异常的发生率，以将该结果与预后和围产儿结局相关联，从而改善患者咨询。
2020 年 1 月至 2023 年 12 月，在福贾医院的胎儿医学科进行了根据 FMF 标准进行的早孕期筛查。我们研究并收集了颈项透明层 >99 百分位（iNT）、CH 和进展为胎儿水肿（非免疫性胎儿水肿，NIFH）的胎儿的临床数据。在这些选定的病例中，我们评估了胎儿核型，以证明存在染色体异常，以及与胎儿结构异常和不同妊娠结局相关联。
我们评估了 45 例通过早孕期筛查超声发现的 iNT、CH 和 NIFH。在这 45 名孕妇中，有 4 名失访。在这 41 例妊娠中，有 20 例（48.8%）在我们科分娩，新生儿健康出院。21 例（51.2%）流产的孕妇中，只有 2 例自然流产；其余 19 例决定行药物流产（MTP）。决定行 MTP 的 19 例孕妇均存在遗传异常和/或畸形。20 例健康新生儿出院的病例诊断如下：5 例 CH（20%的病例），1 例 NIFH（5%的病例），14 例 iNT（75%的病例）。所有这些胎儿的核型均正常，无明显畸形。
孤立性 CH 的诊断比文献中描述的更为常见（12 例中有 5 例：41.7%），其预后比之前描述的要好，与无相关异常的 iNT 胎儿的结局相同。早期诊断染色体异常、相关畸形或进展为水肿的可能性对于完整的咨询至关重要。
