Spataro Elisa, Cordisco Adalgisa, Luchi Carlo, Filardi Gilda Rosaria, Masini Giulia, Pasquini Lucia
Fetal Medicine Unit, Department for Women and Children Health, Azienda Ospedaliero Universitaria Careggi, Florence, Italy.
Prenatal Diagnosis Center, Azienda USL Toscana Centro, Piero Palagi Hospital, Florence, Italy.
Int J Gynaecol Obstet. 2023 Jun;161(3):1040-1045. doi: 10.1002/ijgo.14637. Epub 2023 Jan 17.
To define the residual risk of morbidity-related outcome in fetuses with nuchal translucency (NT) of 3.5 mm or more after normal genetic testing and mid-trimester anomaly scan.
A total of 114 fetuses with isolated NT of 3.5 mm or more, normal karyotype, and array-based comparative genomic hybridization (array-CGH) were included and divided in three groups: NT 3.5-4.5 mm, NT 4.5-6 mm, and NT greater than 6 mm. RASopathy testing and ultrasound follow up were performed in all fetuses. We evaluated: (1) incidence of genetic disorders; (2) incidence of structural abnormalities; (3) pregnancy outcome; (4) long-term pediatric outcome before (point 1) and after (point 2) a normal RASopathy testing and mid-trimester anomaly scan.
After normal karyotype and array-CGH the residual risk of morbidity-related outcome was 24.64% for NT 3.5-4.5 mm, 25% for NT 4.5-6 mm and 76.47% for NT more than 6 mm. After a normal RASopathy testing and mid-trimester anomaly scan the residual risks decreased to 7.14%, 8.69%, and 33.3% in the three groups, respectively.
In fetuses with an NT of 3.5 mm or more and both normal karyotype and array-CGH, the rate of morbidity-related outcome depends on NT size. A normal RASopathy testing and mid-trimester ultrasound are reassuring but the residual risk of morbidity-related outcome is increased compared with the general population, particularly if NT is greater than 6 mm.
确定在基因检测和孕中期畸形扫描结果正常后，颈部半透明带（NT）厚度为3.5毫米或更厚的胎儿中与发病相关结局的残留风险。
共纳入114例孤立性NT厚度为3.5毫米或更厚、核型正常且进行了基于芯片的比较基因组杂交（array-CGH）的胎儿，并将其分为三组：NT 3.5 - 4.5毫米组、NT 4.5 - 6毫米组和NT大于6毫米组。对所有胎儿进行了RAS病检测和超声随访。我们评估了：（1）遗传疾病的发生率；（2）结构异常的发生率；（3）妊娠结局；（4）在RAS病检测和孕中期畸形扫描结果正常之前（第1点）和之后（第2点）的长期儿科结局。
核型和array-CGH结果正常后，NT 3.5 - 4.5毫米组与发病相关结局的残留风险为24.64%，NT 4.5 - 6毫米组为25%，NT大于6毫米组为76.47%。在RAS病检测和孕中期畸形扫描结果正常后，三组的残留风险分别降至7.14%、8.69%和33.3%。
对于NT厚度为3.5毫米或更厚且核型和array-CGH均正常的胎儿，与发病相关结局的发生率取决于NT大小。RAS病检测和孕中期超声结果正常令人安心，但与一般人群相比，与发病相关结局的残留风险有所增加，尤其是当NT大于6毫米时。
