Down’s syndrome screening at 11–14 weeks' gestation using prenasal thickness and nasal bone length

Manegold-Brauer, Gwendolin; Maymon, Ron; Shor, Shimrit; Cuckle, Howard; Gembruch, Ulrich; Geipel, A.

doi:10.1007/s00404-019-05083-2

Cited by 6 publications

(6 citation statements)

References 30 publications

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“…Previous studies showed that the incidence of fetal nasal bone absence or hypoplasia was 0.5-4.5% among fetuses with a normal karyotype. [1][2][3] Upon prenatal ultrasound examination, it is noted that nasal bone abnormalities are often accompanied by other structural abnormalities or soft markers, such as endocardial cushion defect, increased nuchal fold thickness (≥6 mm), short femur or humerus, ventriculomegaly (≥10 mm), intestinal hyperechogenicity, and echogenic intracardiac focus among others. 1 It is widely known that nasal bone absence or hypoplasia is associated with fetal chromosomal abnormalities, such as trisomy 13, 18, 21, and Turner syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…In particular, it is closely related to trisomy 21, with a likelihood ratio of 11.6 to 50.5. [1][2][3][4][5] Rare conditions have also been reported to be associated with nasal bone absence or hypoplasia, such as Cri du chat (5p-) syndrome, Wolf-Hirschhorn syndrome (4p-), and Fryns Syndrome. [6][7][8] Ultrasound measurement of nasal bone length has become a routine part of prenatal care during the first or second trimester, and is recommended for all pregnant women.…”

Section: Introductionmentioning

confidence: 99%

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Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

Zhang¹,

Long²,

Zhou³

et al. 2021

IJGM

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Purpose This study aimed to explore the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal isolated nasal bone absence (INBA) or isolated nasal bone hypoplasia (INBH). We hope to provide additional relevant information for clinical counseling. Patients and Methods From November 1, 2018, to March 1, 2020, 55 pregnant women with isolated nasal bone dysplasia were admitted to the Changzhou Maternity and Child Health Care Hospital. Based on the degree of abnormality, the patients were divided into two groups: INBA and INBH. CMA was performed on all patients. The clinical data and prenatal genetic diagnoses of the two groups were retrospectively analyzed. According to the requirements of WES for samples, 12 cases with negative CMA results were selected for the WES test. Results A total of 55 cases with INBA or INBH met the inclusion criteria. In 35INBA fetuses, there was one case of trisomy 21 and one case of 10q11.22 deletion (5.7Mb), and the abnormality rate was 5.71% (2/35). Compared with INBA fetuses, the abnormality rate was increased in the fetuses with INBH [15.00% (3/20)] (15.00% vs 5.71%); there was one case of 1q21.1 duplication (1.3Mb), one case of Xp22.31 duplication (1.67Mb), and one case of 4p deletion (7.6Mb). In a later retrospective study, two pathogenic variants were identified in two cases after the WES test; the abnormality rate was 16.67% (2/12), which involved RUNX2 and CDH4 genes, respectively. Conclusion A preliminary study confirmed that molecular prenatal diagnosis should be performed in fetuses with INBA or INBH. CMA followed by WES is an effective method.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

Zhang¹,

Long²,

Zhou³

et al. 2021

IJGM

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“…Prenatal evaluation of the nasal bone can screen fetuses with trisomy 21 due to the characteristic face of Down syndrome and based on human anatomical, radiological, and histological studies showing significant differences in nasal bone length and ossification between whole-ploidy and trisomy 21 fetuses [4]. MANEGOLD-BRAUER et al [5]…”

Section: Mechanism and Clinical Significance Of The Occurrence Of Nas...mentioning

confidence: 99%

Clinical Significance and Application of Fetal Nasal Bone Defects

2022

JCMP

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With the improvement of ultrasound instrumentation and equipment in recent years, the resolution of ultrasound images has been increasing, and prenatal ultrasound can detect not only obvious fetal structural malformations but also some minor structural malformations, which provides important diagnostic clues for prenatal screening of fetal anomalies in high-risk pregnant women. Fetal nasal bone defects detected by fetal ultrasound during early pregnancy is an ultrasound indicator that is thought to be closely associated with fetal chromosomal disorders, and chromosomal abnormalities occur in 10% to 50% of fetuses with nasal bone defects. Several studies have confirmed that abnormal fetal nasal bone development is an important clue for the detection of fetal aneuploidy, especially 21-trisomy fetuses. In ultrasound screening from 11 to 13+6 weeks of gestation, abnormal nasal bone development was found in approximately 60%-70%, 52%-57%, 32%-45%, 8.8% and 8.3% of fetuses with trisomy 21, trisomy 18, trisomy 13, Turner syndrome and other chromosomal abnormalities, respectively. Fetal nasal bone defects are thought to be closely related to chromosomal abnormalities and are often used as one of the indications for prenatal diagnosis. However, recent studies have found that simple nasal bone loss or hypoplasia does not increase the risk of Down's syndrome. Simple nasal bone hypoplasia is not as closely associated with chromosomal abnormalities as described in earlier studies. In their study, they showed that fetuses with simple nasal bone anomalies were chromosomally normal and were at increased risk for chromosomal abnormalities when combined with structural malformations or other ultrasound soft indicators. Therefore, karyotyping should be performed when fetal nasal bone defects are detected by ultrasound to reduce the number of fetuses born with chromosomal abnormalities such as trisomy 21. Although the incidence of chromosomal disorders in fetuses with simple nasal bone defects is low, it is still recommended that screening for nasal bone defects should be included as a valuable indicator of fetal chromosomal disorders when fetal ultrasound is performed during early pregnancy. In view of this, the author briefly reviews the clinical significance and application of fetal nasal bone defects in order to provide assistance in prenatal screening and diagnosis, as well as to provide reference opinions for genetic counseling physicians. In order to effectively prevent the occurrence of fetal birth defects.

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“…The discovery of genetic testing using free fetal DNA (ffDNA), whose concentration can be measured in maternal peripheral blood, was a significant breakthrough in noninvasive screening. In addition to the 0.5% false-positive rate, this technique is still comparatively expensive [ 13 , 14 , 15 , 16 , 17 ]. Therefore, it is important to find a cost-effective and noninvasive screening biomarker with high sensitivity and specificity that would provide indisputable benefits, subsequently reducing the number of incorrect indications for amniocentesis diagnosis.…”

Section: Introductionmentioning

confidence: 99%

The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

Buczyńska

Sidorkiewicz

Ławicki

et al. 2020

JCM

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Prenatal screening for Down syndrome (DS) is based on both noninvasive and invasive methods. Noninvasive, cell-free fetal DNA genetic tests are expensive, whereas biochemical methods remain imprecise. Amniocentesis is the most frequently used invasive diagnosis procedure, characterized by 99.8% diagnostic efficiency and less than 1% risk of miscarriage. The aim of this study was to evaluate the screening value of apolipoprotein E (ApoE) as a potential noninvasive biomarker for prenatal DS assessment. This study was conducted on a group of female patients who decided to undergo routine amniocentesis between the 15th and 18th week of pregnancy at the Department of Reproduction and Gynecological Endocrinology of the Medical University of Bialystok, Poland. For the purpose of this study, 20 women with DS fetuses were selected as the study group, and 20 healthy pregnant women with euploid fetus karyotypes as the control group. The plasma levels of ApoE were significantly higher in the study group compared to healthy subjects (p < 0.05). The area under the receiver operating characteristic (ROC) curve was 0.978 (p < 0.001), with the cut-off set to 1.37 mg/mL, which was characterized by 80% of sensitivity and 100% of specificity. The high sensitivity and specificity demonstrate the screening utility of maternal ApoE concentration in prenatal fetal DS screening.

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Down’s syndrome screening at 11–14 weeks' gestation using prenasal thickness and nasal bone length

Cited by 6 publications

References 30 publications

Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

Clinical Significance and Application of Fetal Nasal Bone Defects

The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

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