Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

Yuan, Xiying; Wang, Weinan; Dai, Lei; Yong, Wenjing; Pei, Chenlin; Li, Jingzhi; Wu, Lingqian

doi:10.1186/s12884-023-05642-1

Cited by 2 publications

References 22 publications

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The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort

Meng,

Chen,

Yang

et al. 2024

Acta Obstet Gynecol Scand

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IntroductionOur objective was to evaluate the efficacy of expanded non‐invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high‐risk twin pregnancies.Material and MethodsA prospective, double‐blinded cohort study was conducted, enrolling 73 high‐risk twin pregnancies characterized by increased risk of genetic disorders due to factors such as increased nuchal translucency, structural anomalies, fetal growth restriction, and other factors associated with chromosomal abnormality. Participants underwent invasive karyotyping and chromosomal microarray analysis, alongside separate expanded NIPT for research purposes. The sensitivity, specificity, positive predictive value, and negative predictive value of expanded NIPT were calculated.ResultsThe cohort included 24 monochorionic and 49 dichorionic twin pregnancies. The median cell‐free fetal DNA concentration in expanded NIPT was 16.7% (range 3.86%–49.1%), with a test failure rate of 1.4% (1/73). High‐risk findings for trisomy 21/13/18 were identified in five cases (6.8%), Turner syndrome in one case (1.4%), and CNVs indicative of high risk for clinically significant microdeletion/microduplication syndromes (MMS) in ten cases (13.7%). Of these, 56 cases (76.7%) tested NIPT negative, revealing one false‐negative for 45, X and five false‐negatives for CNVs. Expanded NIPT achieved a detection rate of 100% (5/5) for trisomy 21/13/18 with a false‐positive rate of 0% (0/5), a detection rate of 33.3% (1/3) for sex chromosome abnormalities with a false‐positive rate of 0% (0/3), and a detection rate of 66.7% (4/6) for MMS with a false‐positive rate of 3.0% (2/67). The positive predictive values for trisomy T21/13/18, sex chromosome abnormalities, and known MMS were 100% (5/5), 100% (1/1), and 66.7% (4/6) in the expanded NIPT, respectively.ConclusionsThe expanded NIPT demonstrated high detection rates for common trisomies and moderate detection rates for prenatal MMS in high‐risk twin pregnancies. Further studies with large sample sizes in low‐risk populations are needed.

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The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort

Meng,

Chen,

Yang

et al. 2024

Acta Obstet Gynecol Scand

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Understanding Pathogenic Detection Rates of CNVs in Prenatal Diagnosis: Insights from a Cohort Study

Zhu,

Cheng,

Jia

et al. 2024

Preprint

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The current study aimed to explore the clinical utility of CNV-seq in prenatal diagnosis by comparing the pathogenic detection rates of copy number variants (CNVs) in pregnant women who underwent amniocentesis for various indications and across different CNV fragment sizes. A total of 1,118 pregnant women who received CNV-seq testing were included in the cohort and categorized into eight groups (Groups A to H) based on their testing indications, with the mixed group (Group H) serving as the reference. The top three groups with the highest pathogenic detection rates were high-risk NIPT (Group A), parental chromosomal abnormalities (Group D), and high-risk trisomy 18 (Group F), with detection rates of 92.16% (141/153), 80% (4/5), and 70% (14/20), respectively. The pathogenic CNV detection rate in our reference group (Group H) was 69.02% (127/184). A binary logistic regression analysis comparing the other seven groups against Group H showed that the detection rate in Group A was significantly higher than that in Group H (P < 0.05), while Groups B, C, E, and G had significantly lower detection rates. Furthermore, based on CNV fragment size, cutoffs were established at 1 Mb and 5 Mb, and the study cohort was further divided into four groups (Groups I to IV). Using the group with multiple CNVs (Group IV) as the reference, the pathogenic detection rates for each group were calculated. Binary logistic regression analysis revealed that Group I had a significantly lower detection rate than Group IV (P < 0.05), while Group III exhibited a significantly higher detection rate (P < 0.05). These findings suggest that abnormal NIPT results are often associated with a higher pathogenic detection rate, and larger CNV fragments exceeding 5 Mb are more likely to be pathogenic. This study provides crucial insights into the clinical application of CNV-seq in prenatal diagnosis, emphasizing the importance of abnormal NIPT results and CNV fragment size in clinical interpretation, thereby facilitating more accurate prenatal risk assessment.

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Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

Cited by 2 publications

References 22 publications

The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort

The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort

Understanding Pathogenic Detection Rates of CNVs in Prenatal Diagnosis: Insights from a Cohort Study

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