PDF(Pubmed)
Abstract：
UNASSIGNED: Ultrasonographic measurement of fetal nuchal translucency is used in prenatal screening for trisomies 21 and 18 and other conditions. A cutoff of 3.5 mm or greater is commonly used to offer follow-up investigations, such as prenatal cell-free DNA (cfDNA) screening or cytogenetic testing. Recent studies showed a possible association with chromosomal anomalies for levels less than 3.5 mm, but extant evidence has limitations.
UNASSIGNED: To evaluate the association between different nuchal translucency measurements and cytogenetic outcomes on a population level.
UNASSIGNED: This population-based retrospective cohort study used data from the Better Outcomes Registry & Network, the perinatal registry for Ontario, Canada. All singleton pregnancies with an estimated date of delivery from September 1, 2016, to March 31, 2021, were included. Data were analyzed from March 17 to August 14, 2023.
UNASSIGNED: Nuchal translucency measurements were identified through multiple-marker screening results.
UNASSIGNED: Chromosomal anomalies were identified through all Ontario laboratory-generated prenatal and postnatal cytogenetic tests. Cytogenetic testing results, supplemented with information from cfDNA screening and clinical examination at birth, were used to identify pregnancies without chromosomal anomalies. Multivariable modified Poisson regression with robust variance estimation and adjustment for gestational age was used to compare cytogenetic outcomes for pregnancies with varying nuchal translucency measurement categories and a reference group with nuchal translucency less than 2.0 mm.
UNASSIGNED: Of 414 268 pregnancies included in the study (mean [SD] maternal age at estimated delivery date, 31.5 [4.7] years), 359 807 (86.9%) had a nuchal translucency less than 2.0 mm; the prevalence of chromosomal anomalies in this group was 0.5%. An increased risk of chromosomal anomalies was associated with increasing nuchal translucency measurements, with an adjusted risk ratio (ARR) of 20.33 (95% CI, 17.58-23.52) and adjusted risk difference (ARD) of 9.94% (95% CI, 8.49%-11.39%) for pregnancies with measurements of 3.0 to less than 3.5 mm. The ARR was 4.97 (95% CI, 3.45-7.17) and the ARD was 1.40% (95% CI, 0.77%-2.04%) when restricted to chromosomal anomalies beyond the commonly screened aneuploidies (excluding trisomies 21, 18, and 13 and sex chromosome aneuploidies).
UNASSIGNED: In this cohort study of 414 268 singleton pregnancies, those with nuchal translucency measurements less than 2.0 mm were at the lowest risk of chromosomal anomalies. Risk increased with increasing measurements, including measurements less than 3.5 mm and anomalies not routinely screened by many prenatal genetic screening programs.
UNASSIGNED: To evaluate the association between different nuchal translucency measurements and cytogenetic outcomes on a population level.
UNASSIGNED: This population-based retrospective cohort study used data from the Better Outcomes Registry & Network, the perinatal registry for Ontario, Canada. All singleton pregnancies with an estimated date of delivery from September 1, 2016, to March 31, 2021, were included. Data were analyzed from March 17 to August 14, 2023.
UNASSIGNED: Nuchal translucency measurements were identified through multiple-marker screening results.
UNASSIGNED: Chromosomal anomalies were identified through all Ontario laboratory-generated prenatal and postnatal cytogenetic tests. Cytogenetic testing results, supplemented with information from cfDNA screening and clinical examination at birth, were used to identify pregnancies without chromosomal anomalies. Multivariable modified Poisson regression with robust variance estimation and adjustment for gestational age was used to compare cytogenetic outcomes for pregnancies with varying nuchal translucency measurement categories and a reference group with nuchal translucency less than 2.0 mm.
UNASSIGNED: Of 414 268 pregnancies included in the study (mean [SD] maternal age at estimated delivery date, 31.5 [4.7] years), 359 807 (86.9%) had a nuchal translucency less than 2.0 mm; the prevalence of chromosomal anomalies in this group was 0.5%. An increased risk of chromosomal anomalies was associated with increasing nuchal translucency measurements, with an adjusted risk ratio (ARR) of 20.33 (95% CI, 17.58-23.52) and adjusted risk difference (ARD) of 9.94% (95% CI, 8.49%-11.39%) for pregnancies with measurements of 3.0 to less than 3.5 mm. The ARR was 4.97 (95% CI, 3.45-7.17) and the ARD was 1.40% (95% CI, 0.77%-2.04%) when restricted to chromosomal anomalies beyond the commonly screened aneuploidies (excluding trisomies 21, 18, and 13 and sex chromosome aneuploidies).
UNASSIGNED: In this cohort study of 414 268 singleton pregnancies, those with nuchal translucency measurements less than 2.0 mm were at the lowest risk of chromosomal anomalies. Risk increased with increasing measurements, including measurements less than 3.5 mm and anomalies not routinely screened by many prenatal genetic screening programs.
摘要：
■胎儿颈部半透明的超声测量用于21和18三体及其他条件的产前筛查。3.5毫米或更大的截止值通常用于提供后续调查，例如产前无细胞DNA（cfDNA）筛查或细胞遗传学检测。最近的研究表明，水平小于3.5毫米的染色体异常可能与染色体异常有关，但现有证据有局限性。
■在人群水平上评估不同颈部半透明测量与细胞遗传学结果之间的关联。
■这项基于人群的回顾性队列研究使用了来自“更好的结果注册和网络”的数据，安大略省的围产期登记处,加拿大。包括估计分娩日期为2016年9月1日至2021年3月31日的所有单胎妊娠。对2023年3月17日至8月14日的数据进行了分析。
■Nuchal半透明测量通过多标记筛选结果来鉴定。
■染色体异常是通过所有安大略省实验室生成的产前和产后细胞遗传学检测来确定的。细胞遗传学检测结果,补充了来自cfDNA筛查和出生时临床检查的信息，用于识别没有染色体异常的妊娠。使用具有稳健方差估计和调整胎龄的多变量修正泊松回归来比较具有不同颈部透明层测量类别的妊娠和颈部透明层小于2.0mm的参考组的细胞遗传学结局。
■研究中包括的414268例怀孕（估计分娩日期的平均[SD]产妇年龄，31.5[4.7]年)，359807（86.9％）的颈部半透明小于2.0mm；该组中染色体异常的患病率为0.5％。染色体异常的风险增加与颈部半透明测量的增加有关，对于测量值在3.0至3.5mm以下的妊娠，校正风险比（ARR）为20.33（95％CI，17.58-23.52），校正风险差（ARD）为9.94％（95％CI，8.49％-11.39％）。ARR为4.97（95％CI，3.45-7.17），ARD为1.40％（95％CI，0.77％-2.04％），当限于超出常规筛选的非整倍体（不包括21、18和13三体和性染色体非整倍体）的染色体异常时。
■在这项对414268例单胎妊娠的队列研究中，颈部透明层测量值小于2.0mm的患者发生染色体异常的风险最低.风险随着测量的增加而增加，包括小于3.5毫米的测量值和许多产前遗传筛查程序未常规筛查的异常。
■在人群水平上评估不同颈部半透明测量与细胞遗传学结果之间的关联。
■这项基于人群的回顾性队列研究使用了来自“更好的结果注册和网络”的数据，安大略省的围产期登记处,加拿大。包括估计分娩日期为2016年9月1日至2021年3月31日的所有单胎妊娠。对2023年3月17日至8月14日的数据进行了分析。
■Nuchal半透明测量通过多标记筛选结果来鉴定。
■染色体异常是通过所有安大略省实验室生成的产前和产后细胞遗传学检测来确定的。细胞遗传学检测结果,补充了来自cfDNA筛查和出生时临床检查的信息，用于识别没有染色体异常的妊娠。使用具有稳健方差估计和调整胎龄的多变量修正泊松回归来比较具有不同颈部透明层测量类别的妊娠和颈部透明层小于2.0mm的参考组的细胞遗传学结局。
■研究中包括的414268例怀孕（估计分娩日期的平均[SD]产妇年龄，31.5[4.7]年)，359807（86.9％）的颈部半透明小于2.0mm；该组中染色体异常的患病率为0.5％。染色体异常的风险增加与颈部半透明测量的增加有关，对于测量值在3.0至3.5mm以下的妊娠，校正风险比（ARR）为20.33（95％CI，17.58-23.52），校正风险差（ARD）为9.94％（95％CI，8.49％-11.39％）。ARR为4.97（95％CI，3.45-7.17），ARD为1.40％（95％CI，0.77％-2.04％），当限于超出常规筛选的非整倍体（不包括21、18和13三体和性染色体非整倍体）的染色体异常时。
■在这项对414268例单胎妊娠的队列研究中，颈部透明层测量值小于2.0mm的患者发生染色体异常的风险最低.风险随着测量的增加而增加，包括小于3.5毫米的测量值和许多产前遗传筛查程序未常规筛查的异常。
